Intra-familial variability of ectodermal defects associated with WNT10A mutations.

© 2011 The Authors. doi: 10.2340/00015555-1028 Journal Compilation © 2011 Acta Dermato-Venereologica. ISSN 0001-5555 WNT10A is a member of the wingless signalling pathway that has a fundamental role in skin and appendageal morphogenesis (1). Moreover, naturally occurring WNT10A gene mutations have been identified in the autosomal recessive human ectodermal dysplasia syndromes odonto-onycho-dermal dysplasia (OODD; OMIM277980) and Schöpf-Schulz-Passarge syndrome (SSPS; OMIM224750) (2–7). These disorders show considerable phenotypic overlap, with hypodontia, nail dystrophy, hypotrichosis and palmoplantar keratoderma common to both, although eyelid cysts (apocrine hidrocystomas) are thought to be characteristic for SSPS (8). Furthermore, variable ectodermal defects (teeth, nails, hair) have also been noted in heterozygous carriers of WNT10A mutations, with some phenotypic differences between males and females: dental anomalies predominate in males, whereas hair and nail pathology is more common in female heterozygotes (4, 7).