The phenotypic heterogenicity of bullous ichthyosis--a case report of three family members.
We present a family with an inherited disorder of cornification. The clinical features are much less severe and developed much later in life than is usual in bullous ichthyosis. Skin biopsy demonstrated epidermolytic hyperkeratosis, a feature typical of bullous ichthyosis. The family is reported both to highlight the wide interfamilial variation that may occur in this condition and the value of histology in classifying this form of ichthyosis.
McGrath
J
J
St John's Dermatology Centre, St Thomas's Hospital, London, UK.
Cerio
R
R
Wilson-Jones
E
E
D000328:Adult; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology