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)
M. Goeteyn, A. P. Oranje, V. D. Vuzevski, R. de Groot and L. W. van Suijlekom-Smit
Department of Dermatovenereology, Erasmus University, Rotterdam, The Netherlands.
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 hyperkeratosis 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 revealed no abnormalities; the cystine concentration in hair
specimens was normal.