Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

A unique presentation of immuno-osseous dysplasia.

Hubbard V, Sahota A, Callahan B, Carr S, Paige D

Department of Dermatology, Bart's and the Royal London Hospitals NHS Trust, London, UK. vghubbard@yahoo.co.uk

The immuno-osseous dysplasias are a rare group of conditions in which short-limbed dwarfism is associated with an immune defect. The best known of these is cartilage hair hypoplasia. However, several reports of other distinct conditions exist, which have been arbitrarily classified on the basis of the immune defect. We present a child with a previously unreported combination of immune and skeletal abnormalities in whom there was an unusual and distinctive skin appearance associated with defective cutaneous elastic fibers. These cutaneous features suggest a unifying link with other immuno-osseous dysplasia but the combination of immune and skeletal defects exposes weaknesses in the current method of classification.

Published 21 August 2006 in Pediatr Dermatol, 23(4): 373-7.
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