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atrichia with papular lesions - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrichia with papular lesions

MONDO:0008847

Also known as:papular atrichiaAPL

Overview

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

GeneticsAutosomal recessive · HR (chr 8)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include: Generalized papillary lesions and Sparse hair.

Explore clinical features

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.

HR encodes HR lysine demethylase and nuclear receptor corepressor (1,189 aa). Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. Highest expression in Skin Not Sun Exposed Suprapubic (102.2 TPM) and Skin Sun Exposed Lower leg (94.6 TPM).

Atrichia with papular lesions is associated with mutations in the HR gene on chromosome 8.

The HR protein participates in RIC1-RGP1 exchanges GTP for GDP on RAB6, RIC1:RGP1 stimulates nucleotide RAB6 nucleotide exchange, and RIC1:RGP1 recruits RAB6:GDP to the TGN pathways.

HR is classified as a druggable target (Nuclear Hormone Receptor category) with score 17.4.

Diagnosis

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

Biomarker and diagnostic research for atrichia with papular lesions has been reported in the published literature.

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 atrichia with papular lesions.

6 publications have been identified in PubMed for atrichia with papular lesions. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (17%), and Clinical Trial Publication (17%).

Recent Publications

Burnouf T (2026). [PMID: 41482892](https://pubmed.ncbi.nlm.nih.gov/41482892/). *J Feline Med Surg*. [Clinical Trial Publication]
Alibrahim NH (2026). [PMID: 42103326](https://pubmed.ncbi.nlm.nih.gov/42103326/). *J Int Med Res*. [Case Report / Case Series]
Ullah K (2025). [PMID: 38923025](https://pubmed.ncbi.nlm.nih.gov/38923025/). *J Dermatol*. [Epidemiology / Natural History]
Yadav N (2025). [PMID: 40162362](https://pubmed.ncbi.nlm.nih.gov/40162362/). *Indian J Dermatol*. [Diagnostic / Biomarker]
Sarojadevi HS (2025). [PMID: 40654561](https://pubmed.ncbi.nlm.nih.gov/40654561/). *Int J Trichology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:209500

Orphanet

European rare disease database

Orphanet:86819

GARD

Genetic and Rare Diseases Info Center

GARD:16762

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?

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atrichia with papular lesions

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team