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hereditary mucoepithelial dysplasia (HMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary mucoepithelial dysplasia

MONDO:0008017

Also known as:HMDUrban-Schosser-Spohn syndromemucoepithelial dysplasia, hereditary

Overview

A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.

GeneticsAutosomal dominant · SREBF1 (chr 17)

ResearchLimited published research (4 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 always present findings: Alopecia, Furrowed tongue, Sparse hair, and Erythematous oral mucosa and others; and common findings: Keratoconjunctivitis, Cataract, and Photophobia. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Alopecia, Nail dysplasia, Erythematous oral mucosa

Genetic Landscape

SREBF1 function has not been fully characterized.

Hereditary mucoepithelial dysplasia is associated with mutations in the SREBF1 gene on chromosome 17.

Diagnosis

Genetic testing for SREBF1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 mucoepithelial dysplasia.

4 publications have been identified in PubMed for hereditary mucoepithelial dysplasia. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Slater BA (2026). [PMID: 41492963](https://pubmed.ncbi.nlm.nih.gov/41492963/). *Clin Genet*. [Review / Meta-Analysis]
Sambhariya WS (2025). [PMID: 39603447](https://pubmed.ncbi.nlm.nih.gov/39603447/). *J AAPOS*. [Case Report / Case Series]
Feizi S (2024). [PMID: 39278528](https://pubmed.ncbi.nlm.nih.gov/39278528/). *J AAPOS*. [Case Report / Case Series]
Zhang J (2024). [PMID: 39912473](https://pubmed.ncbi.nlm.nih.gov/39912473/). *Eur J Dermatol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158310

Orphanet

European rare disease database

Orphanet:1839

GARD

Genetic and Rare Diseases Info Center

GARD:5427

Questions for Your Care Team

→Should I pursue genetic testing for SREBF1, and what would the results mean for my family?
→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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hereditary mucoepithelial dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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