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familial reactive perforating collagenosis (RPC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial reactive perforating collagenosis

MONDO:0009000

Also known as:RPCcollagenosis, familial reactive perforatinginherited reactive perforating collagenosis

Overview

Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.

GeneticsAutosomal recessive

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Abnormality of metabolism/homeostasis and Abnormality of the skin.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis
Skin	1	Abnormality of the skin

Explore clinical features

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 familial reactive perforating collagenosis.

5 publications have been identified in PubMed for familial reactive perforating collagenosis. Research spans Case Report / Case Series (100%).

Recent Publications

Rehan Z (2024). [PMID: 39691349](https://pubmed.ncbi.nlm.nih.gov/39691349/). *SAGE Open Med Case Rep*. [Case Report / Case Series]
Davies OMT (2024). [PMID: 39293667](https://pubmed.ncbi.nlm.nih.gov/39293667/). *Am J Dermatopathol*. [Case Report / Case Series]
Tsaqilah L (2024). [PMID: 39193096](https://pubmed.ncbi.nlm.nih.gov/39193096/). *Clin Cosmet Investig Dermatol*. [Case Report / Case Series]
Iacono F (2024). [PMID: 39508707](https://pubmed.ncbi.nlm.nih.gov/39508707/). *G Ital Nefrol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:216700

Orphanet

European rare disease database

Orphanet:79147

GARD

Genetic and Rare Diseases Info Center

GARD:13331

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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familial reactive perforating collagenosis

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team