hereditary hypotrichosis with recurrent skin vesicles
Findings
No curated finding names hereditary hypotrichosis with recurrent skin vesicles yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.
Definition from the Mondo Disease Ontology (MONDO:0013136), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- Angular cheilitisHPOHP:0030318
- 1 of 1 reported patient
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 1 reported patient
- LeukonychiaHPOHP:0001820
- 1 of 1 reported patient
- Skin vesicleHPOHP:0200037
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DSC3HGNC:3037
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of