Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome (original) (raw)
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Journal of Medical Genetics, 1996
Rothmund-Thomson syndrome is a rare, autosomal recessive disorder associated with characteristic cutaneous changes, sparse hair, juvenile cataracts, short stature, skeletal defects, dystrophic teeth and nails, and hypogonadism. Mental retardation is unusual. An increased incidence of certain malignancies has been reported. Clonal or mosaic chromosome abnormalities and abnormalities in DNA repair mechanisms have been reported in some cases. We report two cases of Rothmund-Thomson syndrome, both with intellectual handicap, associated in one with a previously undescribed histological appearance of involved skin, suggesting that the spectrum of abnormalities is even more heterogeneous than previously presumed. Both cases exhibited chromosomal radiosensitivity oflymphocytes which may be an indication of a DNA repair defect. This is the first report of an association between Rothmund-Thomson syndrome and unique, intrinsic, age related skin changes. (J Med Genet 1996;33:928-934)
Rothmund–Thomson syndrome (RTS) is a rare genetic disorder characterized by poikilodermatous skin changes as early as infancy.1 In RTS, common features include short stature, juvenile cataracts, photosensitivity with poikilodermatous skin changes, skeletal abnormalities (including predisposition to malignancy exemplified by osteosarcoma) and skin cancer.2,3 Two clinical subsets of RTS have been defined, based on the presence of mutations in the RECQL4 helicase gene at chromosome location 8q24.4 RTSII, caused by mutations in the RECQL4 gene, represents two-thirds of RTS cases, whereas the aetiology of RTSI has not yet been identified.4 Although most RTSI cases exhibit ectodermal dysplasia and juvenile cataracts, RTSII cases present congenital bone defects and higher risk of osteosarcoma in childhood or of skin cancer later in life. Rare features include saddle nose and triangular face.3 We report the first case of RTS in a Yemeni patient.
Molecular Genetics & Genomic Medicine, 2016
Background Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses. patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the phenotype of more than 50% of the patients with suspected Rothmund-Thomson disease may be due to mutations in other genes raising the need for further extended genetic analyses.
Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2006
We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon" face, trunk obesity, coeliac disease, short stature and mild mental retardation. This is the first case of RTS associated with coeliac disease.
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients
American Journal of Medical Genetics, 2001
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, skeletal abnormalities, juvenile cataracts, and predisposition to speci®c cancers. We have identi®ed a contemporary cohort of 41 patients to better de®ne the clinical pro®le, diagnostic criteria, and management of patients with RTS. Patients with the diagnosis of RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or from direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. The age range at ascertainment was 9 months to 42 years (28 males and 13 females; M:F, 2:1). All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal ®ndings (17%), two had cataracts (6%), and one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at signi®cant risk for this tumor. This case-series study reveals a clinical pro®le of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. These differences may re¯ect either allelic or genetic heterogeneity. This study documents the frequency of clinical anomalies in a contemporary cohort of RTS patients and revises guidelines for diagnosis and management of RTS.