Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene (original) (raw)

Lamellar ichthyosis and arthrogryposis in a premature neonate

Journal of Dermatological Case Reports, 2015

Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy. (

Congenital Lamellar Ichthyosis in Newborn: A Case Report

Journal of Evidence Based Medicine and Healthcare, 2015

The term Congenital Lamellar Ichthyosis is used for newborns in whom all the body surface is covered by thick skin sheets, so called "collodion membrane". Ichthyosis is an infrequent clinical entity worldwide (1:300,000 births). The collodion membrane is the result of an epidermal developmental dysfunction. The collodion membrane is composed of thick skin sheets which resemble translucent, tight parchment paper. In almost all of the collodion membrane cases an autosomal recessive ichthyosiform disease is implicated. Especially, in cases of lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis frequent association with collodion baby formation has been well documented. Clinically, the collodion babies may encounter dehydration, electrolyte imbalance, temperature imbalance and increases risk of sepsis because of relatively severe skin damage. Therefore, morbidity and mortality rates are fairly high in these cases. Conclusively, these newborns should be monitored carefully in intensive care units and is difficult to diagnose in antenatal period.

Rare Case Report-Neonatal Lamellar Ichthyosis in Newborn - Collodian Baby

Lamellar ichthyosis, also known as ichthyosis lammellaris and non-bullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often cover the skin and may resemble fish scales. In medicine, the term collodion baby applies to newborns that appear to have an extra layer of skin (known as a collodion membrane) that has a collodion -like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Clinically, the collodion babies may encounter dehydration, electrolyte imbalance, temperature malfunction and increasing sepsis risk because of relatively severe skin damage. Therefore, morbidity and mortality rates are fairly high in these cases. Conclusively, these newborns should be monitored carefully in intense care units and appropriate and supportive treatment must be undertaken.

Rare case of Neonatal Lamellar Ichthyosis - Collodian baby

Lamellar ichthyosis, also known as ichthyosis lammellaris and non-bullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people. Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often cover the skin and may resemble fish scales. In medicine, the term collodion baby applies to newborns that appear to have an extra layer of skin (known as a collodion membrane) that has a collodion -like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Clinically, the collodion babies may encounter dehydration, electrolyte imbalance, temperature malfunction and increasing sepsis risk because of relatively severe skin damage. Therefore, morbidity and mortality rates are fairly high in these cases. Conclusively, these newborns should be monitored carefully in intense care units and appropriate and supportive treatment must be undertaken.

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Case Reports in Dermatology, 2021

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

Collodion baby-congenital ichthyosis: clinical review

International Journal of Contemporary Pediatrics

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms “Ichthyosis”, “collodion baby”, “collodion membrane”, “Congenital ichthyosiform erythroderma”, and “Lamellar ichthyosis”.

Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype

Journal of The American Academy of Dermatology, 2008

Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately after birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red, edematous and desquamating, spongy skin giving an impression of excessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks. The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period. ( J Am Acad Dermatol 2008;59:S71-4.)