familial reactive perforating collagenosis

MeSH: C565687ORPHA: 791472 Treatments Available

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

Available Treatments (2)

DrugFormStatusCountriesLead Time
Retinoids (Tretinoin)
Topical cream 0.025%, 0.05%, 0.1%; gel 0.01%, 0.025%FDA Approved103d
Topical corticosteroids
Topical cream 0.05%, ointment 0.05%, solution 0.05%FDA Approved102d

Clinical Presentation

Signs and symptoms associated with familial reactive perforating collagenosis, sourced from HPO and Orphanet clinical annotations.

Erythematous papuleMaculopapular exanthemaSpotty hyperpigmentationInflammatory abnormality of the skinAbnormal epidermal morphologyIncreased number of elastic fibers in the dermisAbnormal cutaneous collagen fibril morphologyHyperkeratotic papuleAbnormal pinna morphologyAbnormality of the periorbital regionPruritusAbnormal scalp morphologyCrusting erythematous dermatitisPerifolliculitisAbnormal oral mucosa morphology

Classification & Codes

MeSH Code

C565687

Orphanet Code

ORPHA:79147
familial reactive perforating collagenosis
MeSHC565687
OrphanetORPHA:79147
Treatments2 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO