Living with Hereditary hypotrichosis with recurrent skin vesicles
A very rare inherited condition with thin or missing hair and small fluid-filled blisters that burst.
Understanding Hereditary hypotrichosis with recurrent skin vesicles
Hair is sparse, fragile, or absent on the scalp, eyebrows, eyelashes, underarms, and body. Fluid-filled blisters (vesicles) form on the scalp and other areas and regularly burst, releasing watery fluid. GARD says it was described in one family. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse hair on the scalp
- Sparse eyebrows and eyelashes
- Little body or underarm hair
- Small blisters that burst
- Rough, bumpy skin around hair follicles
- Sore corners of the mouth
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in DSC3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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
It is caused by changes in the DSC3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hereditary hypotrichosis with recurrent skin vesicles syndrome; hypotrichosis and recurrent skin vesicles
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary hypotrichosis with recurrent skin vesicles.
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