Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
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.
Scott & White Memorial Hospital and Clinic, Texas A&M University College of Medicine. wsmith@sw.org.
Wallace
W
Austin Smith
Austin
A
Cope
Martin
M
Fernandez
Palak
P
Parekh
D000328:Adult; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D053556:Keratin-1 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation
C491616:KRT1 protein, human; D053556:Keratin-1