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familial cutaneous collagenoma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial cutaneous collagenoma

MONDO:0007271

Also known as:collagenoma, familial cutaneous

Overview

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.

GeneticsAutosomal dominant

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: Iris atrophy, Collagenoma, Inner ear hearing loss (sensorineural hearing impairment), and Atrial fibrillation and 7 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Atrial fibrillation, Congestive heart failure, Heart muscle disease (cardiomyopathy)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115250

Orphanet

European rare disease database

Orphanet:53296

GARD

Genetic and Rare Diseases Info Center

GARD:9799

Questions for Your Care Team

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familial cutaneous collagenoma

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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