The Gene for Focal Dermal Hypoplasia (Goltz Syndrome) Is Identified

PORCN mutations, which affect regulation of Wnt signaling, cause the mucocutaneous manifestations of this syndrome.

Focal dermal hypoplasia, also known as Goltz syndrome, is an X-linked dominant disease with manifestations that include patchy dermal hypoplasia with herniation of fat into the dermis; dystrophic nails; sparse, brittle hair; and hypodontia. Short stature, ocular abnormalities, pointed chin, bone abnormalities, anomalies of the digits, and mental retardation are other associated features. More than 90% of those affected are female. Two research teams have identified the genetic defect responsible for this disease.

Both groups used comparative genomic hybridization to locate the area of interest on the X chromosome. They then sequenced potential genes and found either point mutations or deletion mutants in the PORCN gene in most affected indiv…

Reviewing Author

Craig A. Elmets, MD

Disclosures

Consultant / Advisory board Astellas Pharmaceuticals

EquityVaxin

Grant / Research support NIH; NIH/NCI; Veteran’s Administration; Ferndale Laboratories; Kyowa Hakko Kirin Pharma, Inc.

Editorial boards Cancer Prevention Research; Photodermatology, Photoimmunology, & Photomedicine; UpToDate; eMedicine; Journal of Dermatological Sciences; JAMA Dermatology

Leadership positions in professional societies American Academy of Dermatology (Vice Chair, Committee on Science and Research); Photomedicine Society (Board of Directors)