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Hay-Wells syndrome in a child with mutation in the TP73L gene

Authors



Dr. N. Garcia Bartels
Clinical Research Center for Hair and
Skin Physiology (CRC)
Department of Dermatology and Allergy
Charité– Universitätsmedizin Berlin
Charitéplatz 1
D-10117 Berlin, Germany
Tel.: +49-30-45 0-51 8-25 9
Fax: +49-30-45 0-51 8-95 2
E-Mail: natalie.garcia-bartels@charite.de

Summary

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands.

We present a three-month-old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.

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