Living with Focal dermal hypoplasia
A genetic condition that mainly affects the skin, bones, eyes and face and is seen mostly in females.
Understanding Focal dermal hypoplasia
About 90 percent of people with it are female, and males usually have milder signs. Skin changes are present from birth and include streaks of thin skin, fatty nodules, and areas lacking skin. Wart-like growths (papillomas) can form later. Many people have hand and foot differences and eye problems. Intelligence is usually not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Streaks of thin or missing skin
- Skin color changes
- Wart-like growths (papillomas)
- Small, ridged nails and sparse hair
- Missing, fused or webbed fingers or toes
- Eye differences such as small eyes or coloboma
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PORCN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PORCN gene cause it. It is X-linked, which means the gene is on the X chromosome.
Also known as: fdh; fdh - focal dermal hypoplasia; focal dermal hypoplasia, x-linked dominant; fodh - focal dermal hypoplasia; goltz syndrome; goltz-gorlin syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Focal dermal hypoplasia.
Explore research for Focal dermal hypoplasia
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