A four generation hidrotic ectodermal dysplasia family: an... : Clinical Dysmorphology (original) (raw)
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A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
TURNPENNY, P. D.1; DE SILVA, D. C.2, *; GREGORY, D. W.3; GRAY, E. S.4; DEAN, J. C.S.2
1_Department of Child Health, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK Departments of_
2_Medical Genetics,_
3_Medical Microbiology and_
4_Pathology, Medical School, Foresterhill, Aberdeen AB9 2ZD, UK_
Received 3 October 1993 and accepted for publication 12 June 1995
*To whom correspondence should be addressed.
Abstract
A four generation Scottish family with hidrotic ectodermal dysplasia affecting predominantly teeth, skin and hair is described. Hypo- or oligodontia of the secondary dentition by late adolescence was characteristic and two individuals had multiple natal teeth. Flexural acanthosis nigricans during childhood and early adolescence is a feature in some of the women. All affected individuals produced sweat, but heat tolerance was variable. Hypoplasia of the pilosebaceous units was found on light microscopy in one subject. Scalp hair was thin and slow growing (but adult females described much improved quality during pregnancy) and body hair was scanty. Scanning electron microscopy of hair samples showed abnormal cuticular appearances consistent with a primary defect affecting keratin structure. The nails were normal. Relative macrocephaly due to hyperostosis of the cranial vault was variably present. Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome. In Clouston syndrome, however, alopecia can be severe, palmarplantar hyperkeratosis is usually present, and hypo/oligodontia is not a prominent feature.
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