A rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia has been designated the acronym IFAP. An X-linked recessive mode of inheritance was initially proposed but a few recent reports in girls suggested genetic heterogeneity of this syndrome. We herein describe a 3-year-old girl with clinical and histological features typical of IFAP. In addition to the already known features of the syndrome the patient also developed bilateral cataract. Electron microscopy examination of the skin showed partial disruption of the intercellular bridges, spongiotic changes and decrease in the number and size of desmosomes supporting the notion that IFAP may be a cell-to-cell adhesion disorder.
A 4-month-old female infant presented with 1 month history of horizontal nystagmus and discrete multiform skin lesions. The patient was initially diagnosed with congenital nystagmus and staphylococcal skin infection not responding to antimicrobial agents. The development of severe systemic symptoms led to extensive investigations and the diagnosis of disseminated tuberculosis. Mycobacterium tuberculosis (MTB) was isolated from the skin and cerebrospinal fluid. The patient was treated with isoniazid, rifampicin, pyrizinamide, streptomycin and dexamethasone. Skin lesions resolved completely but severe neurological deficits persisted.
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