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hypotrichosis simplex - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis simplex

MONDO:0018914

Also known as:hereditary hypotrichosis simplex

Overview

Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.

OnsetCONGENITAL, CHILDHOOD

ResearchLimited published research (8 articles)

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 very common findings: Sparse eyelashes, Alopecia, Sparse scalp hair, and Sparse body hair and others; and common findings: Sparse hair.

Organ System	Phenotype Count	Example Features
Skin	1	Alopecia

Age of onset: at birth, childhood.

Explore clinical features

Prognosis

Phenotype severity distribution: 5 very common features, 1 common feature.

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 hypotrichosis simplex.

8 publications have been identified in PubMed for hypotrichosis simplex. Research spans Case Report / Case Series (50%), Other (25%), and Basic Science / Preclinical (25%).

Recent Publications

Gupta P (2026). [PMID: 39912188](https://pubmed.ncbi.nlm.nih.gov/39912188/). *Indian J Dermatol Venereol Leprol*. [Other]
Shaheen EA (2025). [PMID: 39845463](https://pubmed.ncbi.nlm.nih.gov/39845463/). *JAAD Case Rep*. [Case Report / Case Series]
Won Y (2025). [PMID: 39635794](https://pubmed.ncbi.nlm.nih.gov/39635794/). *Indian J Dermatol Venereol Leprol*. [Other]
Liu X (2025). [PMID: 41442087](https://pubmed.ncbi.nlm.nih.gov/41442087/). *Hum Genet*. [Basic Science / Preclinical]
Wang X (2024). [PMID: 38771644](https://pubmed.ncbi.nlm.nih.gov/38771644/). *JCI Insight*. [Basic Science / Preclinical]
Yang L (2024). [PMID: 39152648](https://pubmed.ncbi.nlm.nih.gov/39152648/). *J Cosmet Dermatol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:55654

GARD

Genetic and Rare Diseases Info Center

GARD:9170

Questions for Your Care Team

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hypotrichosis simplex

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team