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bullous dystrophy, macular type (EBM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

bullous dystrophy, macular type

MONDO:0010540

Also known as:EBMbullous dystrophy hereditary macular typebullous dystrophy, hereditary macular type

Overview

A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.

GeneticsX-linked

ResearchLimited published research (2 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: Severe short stature, Microcephaly, Alopecia totalis, and Short finger and 5 more.

Organ System	Phenotype Count	Example Features
Skin	3	Alopecia totalis, Abnormal nail morphology, Hyperpigmentation of the skin
Arms and legs

Prognosis

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 bullous dystrophy, macular type.

2 publications have been identified in PubMed for bullous dystrophy, macular type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Kim YJ (2025). [PMID: 40615611](https://pubmed.ncbi.nlm.nih.gov/40615611/). *Eye (Lond)*. [Review / Meta-Analysis]
Kokandi B (2024). [PMID: 39589451](https://pubmed.ncbi.nlm.nih.gov/39589451/). *J Epidemiol Glob Health*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:302000

Orphanet

European rare disease database

Orphanet:1867

GARD

Genetic and Rare Diseases Info Center

GARD:1038

Questions for Your Care Team

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bullous dystrophy, macular type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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