Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome) . Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)
Goeteyn, M.; Oranje, A.P.; Vuzevski, V.D.; de Groot, R.; van Suijlekom-Smit, L.W.
Archives of Dermatology 127(2): 225-230
1991
ISSN/ISBN: 0003-987X PMID: 1990988 Document Number: 386643
The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. The nails were hyperkeratotic. Morphologic findings were slight, regular acanthosis and severe diffuse hyperkerptosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. The most prominent ultrastructural finding was the presence of solitary or multiple droplets of varying size in the cytoplasm of the keratinocytes. Hair analysis reveaed no abnormalities; the cystine concentrations in hair specimens was normal.