Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma

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منو

" Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma "
Austin Smith, Wallace; Cope, Austin; Fernandez, Martin; Parekh, Palak

Document Type	:	AL
Record Number	:	923989
Doc. No	:	LA96w8m091
Language of Document	:	English
Main Entry	:	Austin Smith, Wallace; Cope, Austin; Fernandez, Martin; Parekh, Palak
Title & Author	:	Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma [Article]\ Austin Smith, Wallace; Cope, Austin; Fernandez, Martin; Parekh, Palak
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	22/4
Date	:	2016
Abstract	:	Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK). EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation. We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age. Genotype analysis was performed on the newborn child who was found to harbor a mutation in the keratin 1 gene. This family demonstrates the phenotypic expression of PPK associated with keratin 1 gene mutations and illustrates the importance of genotype-phenotypecorrelation in this disorder.