familial reactive perforating collagenosis
MONDO:0009000Mondo
Findings
No curated finding names familial reactive perforating collagenosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009000), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Erythematous papuleHPOHP:0030350
- Very frequent (80% to 99% of cases)
- Maculopapular exanthemaHPOHP:0040186
- Very frequent (80% to 99% of cases)
- Abnormal cutaneous collagen fibril morphologyHPOHP:0031512
- Frequent (30% to 79% of cases)
- Abnormal epidermal morphologyHPOHP:0011124
- Frequent (30% to 79% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- Frequent (30% to 79% of cases)
- Increased number of elastic fibers in the dermisHPOHP:0025164
- Frequent (30% to 79% of cases)
- Inflammatory abnormality of the skinHPOHP:0011123
- Frequent (30% to 79% of cases)
- Spotty hyperpigmentationHPOHP:0005585
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Abnormal scalp morphologyHPOHP:0001965
- Occasional (5% to 29% of cases)
- Abnormality of the periorbital regionHPOHP:0000606
- Occasional (5% to 29% of cases)
- Crusting erythematous dermatitisHPOHP:0007473
- Occasional (5% to 29% of cases)
Reported absent (5)
- Abnormal fingernail morphologyHPOHP:0001231
- Abnormality of the dentitionHPOHP:0000164
- Chronic kidney diseaseHPOHP:0012622
- Dermatological manifestations of systemic disordersHPOHP:0001005
- Diabetes mellitusHPOHP:0000819
Show the remaining 3
- PerifolliculitisHPOHP:0012322
- Occasional (5% to 29% of cases)
- PruritusHPOHP:0000989
- Occasional (5% to 29% of cases)
- Abnormal oral mucosa morphologyHPOHP:0011830
- Very rare (1% to 4% of cases)
Where it sits
- A kind of