Focal Dermal Hypoplasia

Also known as: Goltz-Gorlin syndrome; Goltz syndrome

Overview

Focal dermal hypoplasia (FDH) is a genetic condition affecting the skin, skeleton, eyes, teeth, cardiovascular, urinary, gastrointestinal and neurological systems. It occurs mainly in females, and varies from mild to severe. The skin is thinner than it should be in a linear pattern, which appears as streaks of pale, red, or brown discolouration, with fat nodules protruding through the thin skin. Other possible clinical features include sparse hair, abnormal nails, oligodactyly (missing fingers or toes), syndactyly (webbed or fused fingers or toes), or more severe skeletal abnormalities, microphthalmia (small eyes), anophthalmia (severely underdeveloped eyes), ear abnormalities, facial asymmetry, developmental delay, heart abnormalities, kidney abnormalities, and gut abnormalities. Diagnosis may be made by clinical examination or by genetic testing. Management involves thorough investigation of all systems that may be involved. Care is usually by a multi-disciplinary specialist team. FDH is caused by mutations involving the PORCN gene on the X chromosome. The condition can be inherited and passed on, and the pattern of this is complex. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Veronica Kinsler, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for focal dermal hypoplasia in the UK. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.

Information and support for features in common with ectodermal dysplasia is provided by the Ectodermal Dysplasia Society (see entry Ectodermal Dysplasia).