Peter Hull - Academia.edu (original) (raw)

Papers by Peter Hull

Research paper thumbnail of Management of acne: Canadian clinical practice guideline

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, Jan 16, 2015

This guideline is intended for health care provid ers caring for patients with acne in Canada, sp... more This guideline is intended for health care provid ers caring for patients with acne in Canada, spe cifically nurses, pharmacists, family physicians, pediatricians, obstetricians/gynecologists and dermatologists. The recommendations in this guideline address acne vulgaris in pediatric and adult age groups, with the following exclusions: neonatal, infantile and lateonset acne; acne fulminans; acne inversa (hidradenitis suppurativa); and acne variants such as gramnegative folliculitis, rosacea, demodici dosis, pustular vasculitis, mechanical acne, oil or tar acne, and chloracne. These conditions were excluded because they have different pathogenic mechanisms. We also wished to maintain congru ence with the source guideline for adaptation, the European EvidenceBased (S3) Guidelines for the Treatment of Acne (ES3). 16 Methods Guideline panel composition Members of the guideline panel were selected by the steering committee (C.L. and J. Tan) accord ing to acknowledged expertise in acne, as indi cated by peerreviewed publications and reputa tion. Dermatologists from disparate regions of

Research paper thumbnail of Acute hereditary coproporphyria induced by the androgenic/anabolic steroid methandrostenolone (Dianabol)

Journal of the American Academy of Dermatology, 1994

Acute attacks of porphyria can be induced by certain drugs. We report a case of acute copro porph... more Acute attacks of porphyria can be induced by certain drugs. We report a case of acute copro porphyria induced by mcthandrostenolone. This is the first report of acute porphyria induced by an androgenic, anabolic steroid. (J AM ACAD DERMAToL 1994;30:308-12.) Androgenic anabolic steroids (AS) became available in North America in the 1950s, and athletes have used stanozolol and methandrostenolone to enhance their athletic performance. The institutionalized use of AS in Leipzig, Germany has been described. 1 Methandrostenolone use has continued, although the manufacturer ceased production in 1982. The source of supply is uncertain. We report a case of hereditary coproporphyria (He) induced by an AS. CASE REPORT A 23-year-old man started weight lifting in 1987. He began taking oral methandrostcnolone, 20 mg/day, in May 1988. He took no other drugs and has never drunk alcohol. In June 1988 he experienced paresthesias in his arms and hands and stopped the AS. He had no a bdominal pain. The paresthesias cleared a few days later without treatment. In early July 1988, after the patient sun bathed, vesicles developed on his face and bullae developed on the dorsa of his hands (Fig. I), He again experienced paresthesias in his arms and hands. Examination revealed slight From the University of Saskatchewan.

Research paper thumbnail of Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation

British Journal of Dermatology, 2011

Research paper thumbnail of Photoprotection Knowledge and Behaviours Among Organ Transplant Recipients

Journal of cutaneous medicine and surgery, 2017

Organ transplant recipients (OTRs) are at an increased risk of developing a de novo malignant neo... more Organ transplant recipients (OTRs) are at an increased risk of developing a de novo malignant neoplasm compared to the general population. The primary contributor to skin cancer in all patients is sun exposure. In this study, we aim to ascertain both OTR skin cancer awareness and photoprotection practices. A questionnaire-based study of Saskatchewan transplant recipients. Nearly all respondents were aware that sun exposure is the best-known cause of skin cancer and that as an OTR, they are at increased risk of skin cancer (99.3% and 90.5%, respectively). Approximately half of respondents reported wearing a hat regularly, sun avoidance between 10 am and 3 pm, or wearing sunscreen regularly (53.7%, 33.1%, and 47.9%, respectively). Many OTRs are not engaging in photoprotection. Further intervention, which may include access to a dermatologist, is necessary to ensure ORTs do not experience undue morbidity and mortality secondary to skin cancer.

Research paper thumbnail of Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Journal of Dermatological Science, 2008

Research paper thumbnail of Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Journal of …, 2008

The field of science and medicine has experienced a flood of data and technology associated with ... more The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this ...

Research paper thumbnail of Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

American journal of human genetics, Jan 4, 2017

Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by rec... more Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Using targeted resequencing of the KWE critical region in five South African families and SNP array and whole-genome sequencing in two Norwegian families, we identified two overlapping tandem duplications of 7.67 kb (South Africans) and 15.93 kb (Norwegians). The duplications segregated with the disease and were located upstream of CTSB, a gene encoding cathepsin B, a cysteine protease involved in keratinocyte homeostasis. Included in the 2.62 kb overlapping region of these duplications is an enhancer element that is active in epidermal keratinocytes. The activity of this enhancer correlated with CTSB expression in normal differentiating keratinocytes and other cell lines, but not with FDFT1 or NEIL2 expression. Gene expression (qPCR) an...

Research paper thumbnail of Filaggrin loss of function mutations are a factor in patients with multiple contact allergies

Contact Dermatitis

Conflicts of Interest. W. H. I. McLean has filed patents on genetic testing and therapy developme... more Conflicts of Interest. W. H. I. McLean has filed patents on genetic testing and therapy development aimed at the filaggrin gene. The rest of the authors have declared that they have no conflict of interest. This is the peer reviewed version of the following article: Elhaji, Y., et al. "Filaggrin loss of function mutations are a factor in patients with multiple contact allergies", Contact Dermatitis (2019), which has been published in final form at https://doi.org/10.1111/cod.13268. This article may be used for noncommercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.

Research paper thumbnail of Onychomycosis in children: prevalence and treatment strategies

Journal of the American Academy of Dermatology, Mar 1, 1997

Background: Onychomycosis is observed less frequently in children than adults. Until recently man... more Background: Onychomycosis is observed less frequently in children than adults. Until recently management of onychomycosis in children included topical formulations, oral griseofulvin, and in some cases deferral of treatment. Objective: We attempted to determine the prevalence of onychomycosis in North American children 18 years old or younger attending our dermatology offices (three Canadian, two U.S.) and to report the group's experience using fluconazole, itraconazole, and terbinafine for onychomycosis. Methods: We undertook a prospective, multicenter survey in which all children, regardless of presenting complaint, were examined for onychomycosis by a dermatologist. In instances of clinical suspicion appropriate nail samples were obtained for light microscopy and culture. Results: A total of 2500 children under age 18 were examined in the five-center survey (1117 males and 1383 females, mean _ S.E. age: 11.2 _ 0.1 years). There was one child with fmgemail and ten with mycologically confirmed toenail dermatophyte onychomycosis. The overall prevalence of onychomycosis was 0.44%. Considering those children whose primary or referring diagnosis was not onychomycosis or tinea pedis, the prevalence of onychomycosis was 0.16%. Outside the survey we have seen six other children with dermatophyte onychomycosis; these 17 cases form the basis for the remainder of the report. Of the 17 children, eight (47%) had concomitant tinea pedis infection, and in 11 (65%) a sibling, parent, or grandparent had onychomycosis or tinea pedis. Management included topical terbinafine (two patients: one cured, one failed therapy), topical ketoconazole (one patient: clinical improvement), oral fluconazole (two patients: one cured, one had Down's syndrome and was noncompliant), oral itraconazole (four patients: three cured with subsequent recurrence at follow-up in one patient, one lost to follow-up), oral terbinafine (five patients: four cured with subsequent recurrence at follow-up in one patient, one failed therapy). One child received no therapy following discussion with the parents, one was lost to follow-up and one was found to have asymptomatic hepatic dysfunction with hepatitis C at prethempy bloodwork. Conclusion: The prevalence of onychomycosis in our sample of North American children 18 years old or younger was 0.44% (n = 2500). In the subset of children whose primary or refening diagnosis was not onychomycosis, the prevalence of onychomycosis was 0.16%. Children with onychomycosis should be carefully examined for concomitant finea pedis, and their parents and siblings checked for onychomycosis and tinea pedis. The newer oral antifungal agents fluconazole, itraconazole, and terbinafine may be effective and well-tolerated in the treatment of onychomycosis in this age group. These drugs should be carefully evaluated in a larger cohort of children with onychomycosis.

Research paper thumbnail of Jacobus Gideon Louw Morrison

South African Medical Journal, 2011

Jac or Jacques or Jack, as he was known to his many friends, was born on 6 June 1945 in Frankfort... more Jac or Jacques or Jack, as he was known to his many friends, was born on 6 June 1945 in Frankfort, in the then Orange Free State. The son of a family practitioner, Dr Simon Padley Morrison, Jac grew up on a farm in Northam district, north of Pretoria. His mother, Magdalena Louw, a musician, bestowed on him a lifelong interest in music. He went to school in Rustenburg and, after his compulsory army service, studied medicine at the University of Pretoria, qualifying with distinction. He went on to complete his dermatology training under Professor George Findlay at the University of Pretoria. He was awarded an ICI Scholarship and pursued his lifelong interest in dermatopathology, working with Edward Wilson-Jones at St John's Hospital for Diseases of the Skin in London. Here he established great friendships with Mac MacDonald, Arthur Knight and Robin Marks. During his brief time in 'academic dermatology' Jac authored or co-authored 21 papers. He is perhaps most remembered for his detailed analysis of papulonecrotic tuberculides.

Research paper thumbnail of The melanocyte: an essential link in hydroquinone-induced ochronosis

Journal of the American Academy of Dermatology, Apr 1, 1990

Research paper thumbnail of Major gene segregation of actinic prurigo among North American Indians in Saskatchewan

American Journal of Medical Genetics, May 29, 2000

Actinic prurigo is an idiopathic, familial photodermatosis seen especially in American Indians. S... more Actinic prurigo is an idiopathic, familial photodermatosis seen especially in American Indians. Segregation analysis was performed on 12 Saskatchewan pedigrees with American Indian ancestry, comprising a total of 1,148 individuals, ascertained via probands diagnosed with actinic prurigo. Although a high degree of familial aggregation has been noted in the past and dominant inheritance has been suggested, no formal segregation analysis has been attempted. Actinic prurigo has a variable age of onset and, therefore, age at the time of censoring must be taken into account in the analysis. However, as these ages of 57% of the unaffected individuals were missing, an algorithm was devised to impute the missing ages from known birth years in the family based on the age differences among relatives and spouses. Using these imputed ages, simple dominant inheritance with incomplete penetrance and a single age of onset distribution was found. The method for imputing the ages at examination was evaluated, as was the correction for ascertainment, by using alternative methods and comparing the results. Regardless of the method used, a dominant mode of inheritance without any multifactorial component remained the best hypothesis.

Research paper thumbnail of Decreasing Rates of Neomycin Sensitization in Western Canada

Journal of Cutaneous Medicine and Surgery, 2015

Background: Neomycin contact sensitization rates in North America range from 7% to 13%, whereas i... more Background: Neomycin contact sensitization rates in North America range from 7% to 13%, whereas in Europe they average approximately 1.9%. Objectives: Given that topical neomycin products are no longer readily available in Canada, the aim of this study was to examine what influence this may have had on neomycin sensitization rates in the 3 western provinces. Methods: On the basis of an observation originally communicated by L. M. Parsons and C. Zhang of the University of Calgary, which suggested significantly reduced rates of neomycin sensitization in Calgary, Alberta, Canada, a multicenter study of patch test results from 5690 patient charts was undertaken. Data from 3 other western Canadian Universities (the University of Saskatchewan, the University of Alberta, and the University of British Colombia) were analyzed. Data were available from 2001 to 2013 for the University of Saskatchewan (except 2006), whereas the University of Alberta and the University of British Columbia had da...

Research paper thumbnail of Compliance with Self-Examination Surveillance in Patients with Melanoma and Atypical Moles: An Anonymous Questionnaire Study

Journal of Cutaneous Medicine and Surgery, 2011

Regular skin self-examination is suggested as a means to detect melanomas at an early stage and t... more Regular skin self-examination is suggested as a means to detect melanomas at an early stage and thus improve prognosis. Compliance, however, has seldom been assessed in a routine clinical setting and anonymously. To assess compliance with self-examination in patients with either a previous melanoma or atypical moles (dysplastic nevi) and to examine the perceived utility of supplied photographs. An anonymous questionnaire was sent to all patients seen with either a melanoma or atypical moles between the years 1995 and 2005. The melanoma cohort consisted of 143 patients. There were 440 patients with atypical moles. Replies to the questionnaire were received from 94 of the melanoma patients and from 185 patients in the atypical mole cohort. Only 22% (12) in the melanoma group performed a total skin examination monthly. Fewer than 10% of those with atypical moles did a monthly skin examination, but about half of the patients examined their entire skin more than once a year. Self-examination is practiced in the majority of patients with either a previous melanoma or atypical moles. Those doing this on a regular monthly basis are a small minority.

Research paper thumbnail of Pachyonychia Congenita

Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar... more Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. PC is diagnosed by clinical findings and by molecular genetic testing. Molecular genetic testing of the four keratin genes (KRT6A, KRT6B, KRT16, and KRT17) in which mutations are known to cause PC is clinically available. Treatment of manifestations: Pain from the palmoplantar keratoderma can be reduced by limiting friction and trauma to the feet by minimizing walking or standing, reducing hydration of the stratum corneum by using wicking socks and ventilated footwear, selecting comfortable shoes, and maintaining ideal body weight. Foot care includes paring down hyperkeratotic areas and topical therapies for hyperkeratosis (emollients and lotions containing keratolyics). Care of thickened ...

Research paper thumbnail of Prevalence, epidemiology and geographical distribution of Sporothrix schenckii infections in Gauteng, South Africa

Mycopathologia, 1997

Sporotrichosis is a subcutaneous fungal infection caused by the traumatic implantation of the dim... more Sporotrichosis is a subcutaneous fungal infection caused by the traumatic implantation of the dimorphic, pathogenic fungus, Sporothrix schenkii. It constitutes the most common subcutaneous fungal infection in the general population in South Africa. Sporotrichosis in South Africa dates back to 1914, when the disease was first diagnosed in the gold mines. Occupational and recreational circumstances of infection are well established, and the environmental requirements for contracting the disease are better understood. Sporotrichosis cases were recorded from 42 suburbs in the greater Pretoria area as well as from 23 towns outside the Pretoria municipal boundary. It occurred in 154 patients with ages ranging from less than 1 year to 90 years old, with males predominating. Females in the area seemed to be at lesser risk, mainly becoming infected through gardening injuries, insect bites or other minor injuries due to outdoor activities. Exposure to possible sources of the fungus, either fr...

Research paper thumbnail of PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita

Journal of cutaneous medicine and surgery, 2015

Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New ... more Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New treatments require more accurate instruments for evaluating changes in the quality of life in these patients. This study was undertaken to develop and validate a quality of life questionnaire for PC patients (PCQoL). Relevant factors influencing quality of life in PC patients were identified and incorporated into the well-recognized, general questionnaire, the Dermatology Life Quality Index (DLQI), to establish a disease-specific measure, the PCQoL. Classical test theory (CTT) and Rasch analysis (RA) were used to analyze and validate the PCQoL. CTT analysis established test-retest reliability and internal consistency for the PCQoL. Concurrent and construct validity for the DLQI and the PCQoL were also validated. Chi-square-based infit and outfit statistics indicated that the Rasch model fits the observed responses very well. RA reconfirmed reliability, internal consistency, reasonable ho...

Research paper thumbnail of Compliance with self-examination surveillance in patients with melanoma and atypical moles: an anonymous questionnaire study

Journal of cutaneous medicine and surgery

Regular skin self-examination is suggested as a means to detect melanomas at an early stage and t... more Regular skin self-examination is suggested as a means to detect melanomas at an early stage and thus improve prognosis. Compliance, however, has seldom been assessed in a routine clinical setting and anonymously. To assess compliance with self-examination in patients with either a previous melanoma or atypical moles (dysplastic nevi) and to examine the perceived utility of supplied photographs. An anonymous questionnaire was sent to all patients seen with either a melanoma or atypical moles between the years 1995 and 2005. The melanoma cohort consisted of 143 patients. There were 440 patients with atypical moles. Replies to the questionnaire were received from 94 of the melanoma patients and from 185 patients in the atypical mole cohort. Only 22% (12) in the melanoma group performed a total skin examination monthly. Fewer than 10% of those with atypical moles did a monthly skin examination, but about half of the patients examined their entire skin more than once a year. Self-examina...

Research paper thumbnail of A combination of abnormal immunoarchitecture and reproducible clonal bands identifies the biologic nature of cutaneous B-cell infiltrates

American journal of clinical pathology, 1999

In the multiparametric evaluation of cutaneous B-cell infiltrates (CBIs), immunoarchitectural fea... more In the multiparametric evaluation of cutaneous B-cell infiltrates (CBIs), immunoarchitectural features have been underused, and B-cell clonality alone has limited clinical usefulness. Our aim was to assess the usefulness of immunoarchitectural abnormalities (IAs) and clonality in the diagnosis of CBIs. On 39 CBIs, immunohistochemistry was performed using anti-CD45, anti-CD45RO, anti-CD3, anti-CD20, anti-CD21, and anti-CD35, and polymerase chain reaction was used to detect immunoglobulin heavy chain rearrangement. There were 33 cutaneous lymphoid hyperplasias (CLHs) and 6 cutaneous B-cell lymphomas. IAs were present in 9 lesions and clonal bands in 14 lesions. In 6 cutaneous B-cell lymphomas, IAs were associated with pure and reproducible clonal bands. IAs in 3 CLH lesions with a superficial infiltrate were not associated with clonal bands. Clonal bands in 8 CLH lesions without IAs were not reproducible from deeper sections; furthermore, in 5 of 8 cases, these were present against a ...

Research paper thumbnail of Cutaneous flavobacteriosis--polymorphous skin granulomas from Flavobacterium capsulatum. A case report

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Jan 12, 1983

A case of multiple eruptive skin granulomas caused by Flavobacterium capsulatum is described. The... more A case of multiple eruptive skin granulomas caused by Flavobacterium capsulatum is described. The organism was resistant or poorly sensitive to all antibiotics except carbenicillin. Cure was brought about by using maximal doses of this drug. The source of the infection could not be proved, but it dated from an orthopaedic procedure to the elbow which was followed by a chronic cellulitis at the operation site. Since this is an organism known to occur in stored water, it was presumed that the flavobacterium was introduced into the wound from bottles of boiled and cooled water used in the operating theatre.

Research paper thumbnail of Management of acne: Canadian clinical practice guideline

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, Jan 16, 2015

This guideline is intended for health care provid ers caring for patients with acne in Canada, sp... more This guideline is intended for health care provid ers caring for patients with acne in Canada, spe cifically nurses, pharmacists, family physicians, pediatricians, obstetricians/gynecologists and dermatologists. The recommendations in this guideline address acne vulgaris in pediatric and adult age groups, with the following exclusions: neonatal, infantile and lateonset acne; acne fulminans; acne inversa (hidradenitis suppurativa); and acne variants such as gramnegative folliculitis, rosacea, demodici dosis, pustular vasculitis, mechanical acne, oil or tar acne, and chloracne. These conditions were excluded because they have different pathogenic mechanisms. We also wished to maintain congru ence with the source guideline for adaptation, the European EvidenceBased (S3) Guidelines for the Treatment of Acne (ES3). 16 Methods Guideline panel composition Members of the guideline panel were selected by the steering committee (C.L. and J. Tan) accord ing to acknowledged expertise in acne, as indi cated by peerreviewed publications and reputa tion. Dermatologists from disparate regions of

Research paper thumbnail of Acute hereditary coproporphyria induced by the androgenic/anabolic steroid methandrostenolone (Dianabol)

Journal of the American Academy of Dermatology, 1994

Acute attacks of porphyria can be induced by certain drugs. We report a case of acute copro porph... more Acute attacks of porphyria can be induced by certain drugs. We report a case of acute copro porphyria induced by mcthandrostenolone. This is the first report of acute porphyria induced by an androgenic, anabolic steroid. (J AM ACAD DERMAToL 1994;30:308-12.) Androgenic anabolic steroids (AS) became available in North America in the 1950s, and athletes have used stanozolol and methandrostenolone to enhance their athletic performance. The institutionalized use of AS in Leipzig, Germany has been described. 1 Methandrostenolone use has continued, although the manufacturer ceased production in 1982. The source of supply is uncertain. We report a case of hereditary coproporphyria (He) induced by an AS. CASE REPORT A 23-year-old man started weight lifting in 1987. He began taking oral methandrostcnolone, 20 mg/day, in May 1988. He took no other drugs and has never drunk alcohol. In June 1988 he experienced paresthesias in his arms and hands and stopped the AS. He had no a bdominal pain. The paresthesias cleared a few days later without treatment. In early July 1988, after the patient sun bathed, vesicles developed on his face and bullae developed on the dorsa of his hands (Fig. I), He again experienced paresthesias in his arms and hands. Examination revealed slight From the University of Saskatchewan.

Research paper thumbnail of Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation

British Journal of Dermatology, 2011

Research paper thumbnail of Photoprotection Knowledge and Behaviours Among Organ Transplant Recipients

Journal of cutaneous medicine and surgery, 2017

Organ transplant recipients (OTRs) are at an increased risk of developing a de novo malignant neo... more Organ transplant recipients (OTRs) are at an increased risk of developing a de novo malignant neoplasm compared to the general population. The primary contributor to skin cancer in all patients is sun exposure. In this study, we aim to ascertain both OTR skin cancer awareness and photoprotection practices. A questionnaire-based study of Saskatchewan transplant recipients. Nearly all respondents were aware that sun exposure is the best-known cause of skin cancer and that as an OTR, they are at increased risk of skin cancer (99.3% and 90.5%, respectively). Approximately half of respondents reported wearing a hat regularly, sun avoidance between 10 am and 3 pm, or wearing sunscreen regularly (53.7%, 33.1%, and 47.9%, respectively). Many OTRs are not engaging in photoprotection. Further intervention, which may include access to a dermatologist, is necessary to ensure ORTs do not experience undue morbidity and mortality secondary to skin cancer.

Research paper thumbnail of Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Journal of Dermatological Science, 2008

Research paper thumbnail of Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita

Journal of …, 2008

The field of science and medicine has experienced a flood of data and technology associated with ... more The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this ...

Research paper thumbnail of Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

American journal of human genetics, Jan 4, 2017

Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by rec... more Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Using targeted resequencing of the KWE critical region in five South African families and SNP array and whole-genome sequencing in two Norwegian families, we identified two overlapping tandem duplications of 7.67 kb (South Africans) and 15.93 kb (Norwegians). The duplications segregated with the disease and were located upstream of CTSB, a gene encoding cathepsin B, a cysteine protease involved in keratinocyte homeostasis. Included in the 2.62 kb overlapping region of these duplications is an enhancer element that is active in epidermal keratinocytes. The activity of this enhancer correlated with CTSB expression in normal differentiating keratinocytes and other cell lines, but not with FDFT1 or NEIL2 expression. Gene expression (qPCR) an...

Research paper thumbnail of Filaggrin loss of function mutations are a factor in patients with multiple contact allergies

Contact Dermatitis

Conflicts of Interest. W. H. I. McLean has filed patents on genetic testing and therapy developme... more Conflicts of Interest. W. H. I. McLean has filed patents on genetic testing and therapy development aimed at the filaggrin gene. The rest of the authors have declared that they have no conflict of interest. This is the peer reviewed version of the following article: Elhaji, Y., et al. "Filaggrin loss of function mutations are a factor in patients with multiple contact allergies", Contact Dermatitis (2019), which has been published in final form at https://doi.org/10.1111/cod.13268. This article may be used for noncommercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.

Research paper thumbnail of Onychomycosis in children: prevalence and treatment strategies

Journal of the American Academy of Dermatology, Mar 1, 1997

Background: Onychomycosis is observed less frequently in children than adults. Until recently man... more Background: Onychomycosis is observed less frequently in children than adults. Until recently management of onychomycosis in children included topical formulations, oral griseofulvin, and in some cases deferral of treatment. Objective: We attempted to determine the prevalence of onychomycosis in North American children 18 years old or younger attending our dermatology offices (three Canadian, two U.S.) and to report the group's experience using fluconazole, itraconazole, and terbinafine for onychomycosis. Methods: We undertook a prospective, multicenter survey in which all children, regardless of presenting complaint, were examined for onychomycosis by a dermatologist. In instances of clinical suspicion appropriate nail samples were obtained for light microscopy and culture. Results: A total of 2500 children under age 18 were examined in the five-center survey (1117 males and 1383 females, mean _ S.E. age: 11.2 _ 0.1 years). There was one child with fmgemail and ten with mycologically confirmed toenail dermatophyte onychomycosis. The overall prevalence of onychomycosis was 0.44%. Considering those children whose primary or referring diagnosis was not onychomycosis or tinea pedis, the prevalence of onychomycosis was 0.16%. Outside the survey we have seen six other children with dermatophyte onychomycosis; these 17 cases form the basis for the remainder of the report. Of the 17 children, eight (47%) had concomitant tinea pedis infection, and in 11 (65%) a sibling, parent, or grandparent had onychomycosis or tinea pedis. Management included topical terbinafine (two patients: one cured, one failed therapy), topical ketoconazole (one patient: clinical improvement), oral fluconazole (two patients: one cured, one had Down's syndrome and was noncompliant), oral itraconazole (four patients: three cured with subsequent recurrence at follow-up in one patient, one lost to follow-up), oral terbinafine (five patients: four cured with subsequent recurrence at follow-up in one patient, one failed therapy). One child received no therapy following discussion with the parents, one was lost to follow-up and one was found to have asymptomatic hepatic dysfunction with hepatitis C at prethempy bloodwork. Conclusion: The prevalence of onychomycosis in our sample of North American children 18 years old or younger was 0.44% (n = 2500). In the subset of children whose primary or refening diagnosis was not onychomycosis, the prevalence of onychomycosis was 0.16%. Children with onychomycosis should be carefully examined for concomitant finea pedis, and their parents and siblings checked for onychomycosis and tinea pedis. The newer oral antifungal agents fluconazole, itraconazole, and terbinafine may be effective and well-tolerated in the treatment of onychomycosis in this age group. These drugs should be carefully evaluated in a larger cohort of children with onychomycosis.

Research paper thumbnail of Jacobus Gideon Louw Morrison

South African Medical Journal, 2011

Jac or Jacques or Jack, as he was known to his many friends, was born on 6 June 1945 in Frankfort... more Jac or Jacques or Jack, as he was known to his many friends, was born on 6 June 1945 in Frankfort, in the then Orange Free State. The son of a family practitioner, Dr Simon Padley Morrison, Jac grew up on a farm in Northam district, north of Pretoria. His mother, Magdalena Louw, a musician, bestowed on him a lifelong interest in music. He went to school in Rustenburg and, after his compulsory army service, studied medicine at the University of Pretoria, qualifying with distinction. He went on to complete his dermatology training under Professor George Findlay at the University of Pretoria. He was awarded an ICI Scholarship and pursued his lifelong interest in dermatopathology, working with Edward Wilson-Jones at St John's Hospital for Diseases of the Skin in London. Here he established great friendships with Mac MacDonald, Arthur Knight and Robin Marks. During his brief time in 'academic dermatology' Jac authored or co-authored 21 papers. He is perhaps most remembered for his detailed analysis of papulonecrotic tuberculides.

Research paper thumbnail of The melanocyte: an essential link in hydroquinone-induced ochronosis

Journal of the American Academy of Dermatology, Apr 1, 1990

Research paper thumbnail of Major gene segregation of actinic prurigo among North American Indians in Saskatchewan

American Journal of Medical Genetics, May 29, 2000

Actinic prurigo is an idiopathic, familial photodermatosis seen especially in American Indians. S... more Actinic prurigo is an idiopathic, familial photodermatosis seen especially in American Indians. Segregation analysis was performed on 12 Saskatchewan pedigrees with American Indian ancestry, comprising a total of 1,148 individuals, ascertained via probands diagnosed with actinic prurigo. Although a high degree of familial aggregation has been noted in the past and dominant inheritance has been suggested, no formal segregation analysis has been attempted. Actinic prurigo has a variable age of onset and, therefore, age at the time of censoring must be taken into account in the analysis. However, as these ages of 57% of the unaffected individuals were missing, an algorithm was devised to impute the missing ages from known birth years in the family based on the age differences among relatives and spouses. Using these imputed ages, simple dominant inheritance with incomplete penetrance and a single age of onset distribution was found. The method for imputing the ages at examination was evaluated, as was the correction for ascertainment, by using alternative methods and comparing the results. Regardless of the method used, a dominant mode of inheritance without any multifactorial component remained the best hypothesis.

Research paper thumbnail of Decreasing Rates of Neomycin Sensitization in Western Canada

Journal of Cutaneous Medicine and Surgery, 2015

Background: Neomycin contact sensitization rates in North America range from 7% to 13%, whereas i... more Background: Neomycin contact sensitization rates in North America range from 7% to 13%, whereas in Europe they average approximately 1.9%. Objectives: Given that topical neomycin products are no longer readily available in Canada, the aim of this study was to examine what influence this may have had on neomycin sensitization rates in the 3 western provinces. Methods: On the basis of an observation originally communicated by L. M. Parsons and C. Zhang of the University of Calgary, which suggested significantly reduced rates of neomycin sensitization in Calgary, Alberta, Canada, a multicenter study of patch test results from 5690 patient charts was undertaken. Data from 3 other western Canadian Universities (the University of Saskatchewan, the University of Alberta, and the University of British Colombia) were analyzed. Data were available from 2001 to 2013 for the University of Saskatchewan (except 2006), whereas the University of Alberta and the University of British Columbia had da...

Research paper thumbnail of Compliance with Self-Examination Surveillance in Patients with Melanoma and Atypical Moles: An Anonymous Questionnaire Study

Journal of Cutaneous Medicine and Surgery, 2011

Regular skin self-examination is suggested as a means to detect melanomas at an early stage and t... more Regular skin self-examination is suggested as a means to detect melanomas at an early stage and thus improve prognosis. Compliance, however, has seldom been assessed in a routine clinical setting and anonymously. To assess compliance with self-examination in patients with either a previous melanoma or atypical moles (dysplastic nevi) and to examine the perceived utility of supplied photographs. An anonymous questionnaire was sent to all patients seen with either a melanoma or atypical moles between the years 1995 and 2005. The melanoma cohort consisted of 143 patients. There were 440 patients with atypical moles. Replies to the questionnaire were received from 94 of the melanoma patients and from 185 patients in the atypical mole cohort. Only 22% (12) in the melanoma group performed a total skin examination monthly. Fewer than 10% of those with atypical moles did a monthly skin examination, but about half of the patients examined their entire skin more than once a year. Self-examination is practiced in the majority of patients with either a previous melanoma or atypical moles. Those doing this on a regular monthly basis are a small minority.

Research paper thumbnail of Pachyonychia Congenita

Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar... more Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities. PC is diagnosed by clinical findings and by molecular genetic testing. Molecular genetic testing of the four keratin genes (KRT6A, KRT6B, KRT16, and KRT17) in which mutations are known to cause PC is clinically available. Treatment of manifestations: Pain from the palmoplantar keratoderma can be reduced by limiting friction and trauma to the feet by minimizing walking or standing, reducing hydration of the stratum corneum by using wicking socks and ventilated footwear, selecting comfortable shoes, and maintaining ideal body weight. Foot care includes paring down hyperkeratotic areas and topical therapies for hyperkeratosis (emollients and lotions containing keratolyics). Care of thickened ...

Research paper thumbnail of Prevalence, epidemiology and geographical distribution of Sporothrix schenckii infections in Gauteng, South Africa

Mycopathologia, 1997

Sporotrichosis is a subcutaneous fungal infection caused by the traumatic implantation of the dim... more Sporotrichosis is a subcutaneous fungal infection caused by the traumatic implantation of the dimorphic, pathogenic fungus, Sporothrix schenkii. It constitutes the most common subcutaneous fungal infection in the general population in South Africa. Sporotrichosis in South Africa dates back to 1914, when the disease was first diagnosed in the gold mines. Occupational and recreational circumstances of infection are well established, and the environmental requirements for contracting the disease are better understood. Sporotrichosis cases were recorded from 42 suburbs in the greater Pretoria area as well as from 23 towns outside the Pretoria municipal boundary. It occurred in 154 patients with ages ranging from less than 1 year to 90 years old, with males predominating. Females in the area seemed to be at lesser risk, mainly becoming infected through gardening injuries, insect bites or other minor injuries due to outdoor activities. Exposure to possible sources of the fungus, either fr...

Research paper thumbnail of PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita

Journal of cutaneous medicine and surgery, 2015

Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New ... more Pachyonychia congenita (PC) is a rare but often debilitating, dominantly inherited disorder. New treatments require more accurate instruments for evaluating changes in the quality of life in these patients. This study was undertaken to develop and validate a quality of life questionnaire for PC patients (PCQoL). Relevant factors influencing quality of life in PC patients were identified and incorporated into the well-recognized, general questionnaire, the Dermatology Life Quality Index (DLQI), to establish a disease-specific measure, the PCQoL. Classical test theory (CTT) and Rasch analysis (RA) were used to analyze and validate the PCQoL. CTT analysis established test-retest reliability and internal consistency for the PCQoL. Concurrent and construct validity for the DLQI and the PCQoL were also validated. Chi-square-based infit and outfit statistics indicated that the Rasch model fits the observed responses very well. RA reconfirmed reliability, internal consistency, reasonable ho...

Research paper thumbnail of Compliance with self-examination surveillance in patients with melanoma and atypical moles: an anonymous questionnaire study

Journal of cutaneous medicine and surgery

Regular skin self-examination is suggested as a means to detect melanomas at an early stage and t... more Regular skin self-examination is suggested as a means to detect melanomas at an early stage and thus improve prognosis. Compliance, however, has seldom been assessed in a routine clinical setting and anonymously. To assess compliance with self-examination in patients with either a previous melanoma or atypical moles (dysplastic nevi) and to examine the perceived utility of supplied photographs. An anonymous questionnaire was sent to all patients seen with either a melanoma or atypical moles between the years 1995 and 2005. The melanoma cohort consisted of 143 patients. There were 440 patients with atypical moles. Replies to the questionnaire were received from 94 of the melanoma patients and from 185 patients in the atypical mole cohort. Only 22% (12) in the melanoma group performed a total skin examination monthly. Fewer than 10% of those with atypical moles did a monthly skin examination, but about half of the patients examined their entire skin more than once a year. Self-examina...

Research paper thumbnail of A combination of abnormal immunoarchitecture and reproducible clonal bands identifies the biologic nature of cutaneous B-cell infiltrates

American journal of clinical pathology, 1999

In the multiparametric evaluation of cutaneous B-cell infiltrates (CBIs), immunoarchitectural fea... more In the multiparametric evaluation of cutaneous B-cell infiltrates (CBIs), immunoarchitectural features have been underused, and B-cell clonality alone has limited clinical usefulness. Our aim was to assess the usefulness of immunoarchitectural abnormalities (IAs) and clonality in the diagnosis of CBIs. On 39 CBIs, immunohistochemistry was performed using anti-CD45, anti-CD45RO, anti-CD3, anti-CD20, anti-CD21, and anti-CD35, and polymerase chain reaction was used to detect immunoglobulin heavy chain rearrangement. There were 33 cutaneous lymphoid hyperplasias (CLHs) and 6 cutaneous B-cell lymphomas. IAs were present in 9 lesions and clonal bands in 14 lesions. In 6 cutaneous B-cell lymphomas, IAs were associated with pure and reproducible clonal bands. IAs in 3 CLH lesions with a superficial infiltrate were not associated with clonal bands. Clonal bands in 8 CLH lesions without IAs were not reproducible from deeper sections; furthermore, in 5 of 8 cases, these were present against a ...

Research paper thumbnail of Cutaneous flavobacteriosis--polymorphous skin granulomas from Flavobacterium capsulatum. A case report

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, Jan 12, 1983

A case of multiple eruptive skin granulomas caused by Flavobacterium capsulatum is described. The... more A case of multiple eruptive skin granulomas caused by Flavobacterium capsulatum is described. The organism was resistant or poorly sensitive to all antibiotics except carbenicillin. Cure was brought about by using maximal doses of this drug. The source of the infection could not be proved, but it dated from an orthopaedic procedure to the elbow which was followed by a chronic cellulitis at the operation site. Since this is an organism known to occur in stored water, it was presumed that the flavobacterium was introduced into the wound from bottles of boiled and cooled water used in the operating theatre.