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February 1991

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)

Author Affiliations

From the Departments of Dermatovenereology (Division of Pediatric Dermatology) (Drs Goeteyn and Oranje), Pathology (Dr Vuzevski), and Pediatrics (Drs de Groot and van Suijlekom-Smit), Erasmus University and University Hospital Rotterdam, Sophia Children's Hospital, Rotterdam, the Netherlands. Dr Goeteyn is presently with the Department of Dermatology, Ghent (Belgium) University Hospital.

Arch Dermatol. 1991;127(2):225-230. doi:10.1001/archderm.1991.01680020093012

• 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.

(Arch Dermatol. 1991;127:225-230)

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