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generalized basaloid follicular hamartoma syndrome (GBFHS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

generalized basaloid follicular hamartoma syndrome

MONDO:0011605

Also known as:GBFHSbasaloid follicular hamartoma syndrome, generalized, autosomal dominant

Overview

Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.

GeneticsAutosomal dominant

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Sparse scalp hair, Hamartoma, Palmar pits, and Comedo and 2 more.

Organ System	Phenotype Count	Example Features
Skin	2	Decreased sweating (hypohidrosis), Papule

Explore clinical features

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 generalized basaloid follicular hamartoma syndrome.

3 publications have been identified in PubMed for generalized basaloid follicular hamartoma syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Wong SY (2026). [PMID: 41240053](https://pubmed.ncbi.nlm.nih.gov/41240053/). *J Invest Dermatol*. [Review / Meta-Analysis]
Rodríguez-Sanchez B (2026). [PMID: 41566980](https://pubmed.ncbi.nlm.nih.gov/41566980/). *Clin Exp Pediatr*. [Case Report / Case Series]
Lider S (2025). [PMID: 41133723](https://pubmed.ncbi.nlm.nih.gov/41133723/). *Dermatopathology (Basel)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605827

Orphanet

European rare disease database

Orphanet:168632

GARD

Genetic and Rare Diseases Info Center

GARD:17042

Questions for Your Care Team

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generalized basaloid follicular hamartoma syndrome

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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