Living with Hidrotic ectodermal dysplasia syndrome
A genetic condition, also called Clouston syndrome, that affects hair, nails, and skin but not teeth or sweating.
Understanding Hidrotic ectodermal dysplasia syndrome
It is one form of ectodermal dysplasia, a group of about 150 conditions that affect skin, hair, nails, teeth, and sweat glands. In Clouston syndrome, teeth and sweat glands are not affected. In infants, scalp hair is sparse, patchy, light in color, and fragile. Hair loss may worsen by puberty. Nails grow slowly and become thick and misshapen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hair loss (alopecia)
- Poorly formed nails (nail dystrophy)
- Sparse eyebrows and eyelashes
- Thick skin on palms and soles
- Darker skin over the joints
- Widened, rounded fingertips (clubbing)
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GJB6 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
- 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 GJB6 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant hidrotic ectodermal dysplasia; clouston hidrotic ectodermal dysplasia; clouston syndrome; clouston's hidrotic ectodermal dysplasia; clouston's syndrome; ectodermal dysplasia 2, clouston type
Patient organizations
- National Foundation for Ectodermal DysplasiasHidrotic ectodermal dysplasia syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hidrotic ectodermal dysplasia syndrome.
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