Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hereditary hypotrichosis with recurrent skin vesicles - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary hypotrichosis with recurrent skin vesicles

MONDO:0013136

Also known as:hypotrichosis and recurrent skin vesicles

Overview

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.

GeneticsAutosomal recessive · DSC3 (chr 18)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Sparse body hair, Epidermal acanthosis, Sparse eyebrow, and Angular cheilitis and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Abnormal blistering of the skin, Skin vesicle, Follicular hyperkeratosis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DSC3 encodes desmocollin 3 (896 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Skin Not Sun Exposed Suprapubic (310.3 TPM) and Skin Sun Exposed Lower leg (304.3 TPM).

Hereditary hypotrichosis with recurrent skin vesicles is associated with mutations in the DSC3 gene on chromosome 18.

The DSC3 protein participates in Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis pathway.

DSC3 is classified as a druggable target with score 2.6.

Diagnosis

Genetic testing for DSC3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary hypotrichosis with recurrent skin vesicles.

1 publication has been identified in PubMed for hereditary hypotrichosis with recurrent skin vesicles. Research spans Other (100%).

Recent Publications

Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613102

Orphanet

European rare disease database

Orphanet:217407

GARD

Genetic and Rare Diseases Info Center

GARD:17124

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

hereditary hypotrichosis with recurrent skin vesicles

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features