A new-born girl presented with congenital absence of skin on the right leg and nail abnormalities. On second day of life, she developed multiple blistering skin lesions and died on seventeenth day of life. A positive family history of two other siblings, one male and one female who had blistering skin lesions and died within one and a half month of birth, was present. The diagnosis of Bart's syndrome was made on clinical presentation, family history and skin biopsy.

Background:Kyrle's disease is a rare variant of primary perforating dermatosis. Its occurrence in a familial setting, especially in children, is extremely uncommon. Similar appearing skin lesions have been described in adults, secondary to metabolic disorders, infective agents as well as exposure to chemicals. We present a rare case of this genodermatosis in two siblings.Materials and Methods:Two siblings of a non-consanguineous marriage came with generalized discrete papular lesions with a central keratotic plug. All biochemical and serological investigations were within normal limits. Serial sections of the biopsy revealed typical epidermal invaginations filled with parakeratotic debris and perforation into the dermis with accompanying granulomatous reaction.Results and Conclusions:A careful history, detailed routine investigations and serial sections of the skin biopsy are required to demonstrate the typical morphology and stages of evolution of Kyrle's disease. This helps to differentiate the rare primary Kyrle's disease from other primary and secondary keratotic lesions. Due to the familial occurrence, screening of relatives of an index case is recommended.

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