Hay-Wells syndrome in a child with mutation in the TP73L gene
Version of Record online: 1 OCT 2007
JDDG: Journal der Deutschen Dermatologischen Gesellschaft
Volume 5, Issue 10, pages 919–923, October 2007
How to Cite
Garcia Bartels, N., Neumann, L. M., Mleczko, A., Rubach, K., Peters, H., Rossi, R., Sterry, W. and Blume-Peytavi, U. (2007), Hay-Wells syndrome in a child with mutation in the TP73L gene. JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 5: 919–923. doi: 10.1111/j.1610-0387.2007.06379.x
- Issue online: 1 OCT 2007
- Version of Record online: 1 OCT 2007
- Submitted: 6.10.2006 | Accepted: 12.2.2007
- Hay-Wells syndrome;
- AEC syndrome;
- ankyloblepharon filiforme adnatum;
- ectodermal dysplasia;
- TP73L (p63) gene
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.