The British journal of dermatology
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Over the past 8 years, we have followed a child born as a harlequin baby, who survived due to treatment with retinoids. His condition evolved clinically towards the erythrodermic form of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma, NBCIE). According to ultrastructural and biochemical criteria, our patient originally presented with type II harlequin ichthyosis. ⋯ Persisting keratinocyte hyperproliferation, associated with the presence of a dermal infiltrate, is in agreement with the present clinical picture of severe NBCIE. However, abnormal lamellar body production and defective filaggrin processing, which is not one of the diagnostic criteria of NBCIE, persist in the patient's skin. Further studies of the epidermal lipid composition, and of possible mutations of the keratinocyte transglutaminase gene performed on epidermal cell cultures of harlequin ichthyosis, will be necessary before type II harlequin ichthyosis can be accepted as an extremely severe form of NBCIE.
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Case Reports
Autoantibodies to bullous pemphigoid and epidermolysis bullosa acquisita antigens in an infant.
We describe a 1-year-old boy with multiple tense blisters on the skin, who showed circulating autoantibodies directed to both bullous pemphigoid and epidermolysis bullosa acquisita antigens. The patient's serum IgG antibodies bound to the 290-kDa epidermolysis bullosa acquisita antigen with immunoblot analysis of human dermal extracts. Immunoblot analysis also demonstrated that the patient's serum autoantibodies were reactive with recombinant NC16a domain of the 180-kDa bullous pemphigoid antigen. This study confirmed the presence of circulating autoantibodies directed to both bullous pemphigoid antigen and epidermolysis bullosa acquisita antigen.