Ichthyosis, Exocrine Pancreatic Insufficiency, Impaired Neutrophil Chemotaxis, Growth Retardation, and Metaphyseal Dysplasia (Shwachman Syndrome)

Abstract

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.

The Greek Registry of Shwachman Diamond‐Syndrome: Molecular and clinical data

“…Patient 05 is still receiving growth hormone treatment, while patients 01 and 07 received the treatment around puberty with moderate response. Four similar cases have been previously reported . Transaminasemia was documented in 55% of the patients but resolved during follow‐up in all but one patient .…”

Ichthyosis, Exocrine Pancreatic Insufficiency, Impaired Neutrophil Chemotaxis, Growth Retardation, and Metaphyseal Dysplasia-Reply

“…1 We fully agree that essential fatty acid deficiency can lead to red, scaly eruptions of the skin.2,3 However, these eruptions do not include ichthyosis. \ p = m -\ We are grateful to Dr Schmidt for his comments on our article.…”

Shwachman-Diamond Syndrome: Clinical Phenotypes

“…Short stature, a condition which appears at all ages, should be considered as a primary manifestation of the syndrome. At the present time, there are contrasting data regarding both the role of growth hormone deficiency in determining growth retardation and the clinical efficacy of hormone replacement in these patients [27,28].…”