Familial reactive perforating collagenosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial reactive perforating collagenosis | |
| fr | Collagénose perforante réactionnelle familiale | |
| de | Kollagenose, familiäre reaktive perforierende | |
| es | Colagenosis perforante reactiva familiar | |
| it | Collagenosi reattiva perforante familiare | |
| nl | Familiale reactieve perforerende collagenose | |
| pt | Colagenose perfurante reativa, familiar | |
| pl | Rodzinna reaktywna perforująca kolagenoza | |
| cs | Familiární reaktivní perforující kolagenóza | |
| uk | Сімейний реактивний перфоративний колагеноз | |
| zh | 家族性反应性穿通性胶原病 | |
| tr | Ailesel reaktif perforan kollajenoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216700 | E | validated | |
| ICD-10 | L87.1 | NTBT | attributed | validated |
| ICD-11 | EE70.Y | NTBT | index | validated |
| MONDO | 0009000 | E | validated | |
| MeSH | C565687 | E | validated | |
| UMLS | C1857624 | E | validated | |
| GARD | 13331 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 17567305[PMID]_20101333[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17567305[PMID]_20101333[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2019-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030350 | Erythematous papule | |
| HP:0040186 | Maculopapular exanthema | |
| Frequent (79-30%) | ||
| HP:0031512 | Abnormal cutaneous collagen fibril morphology | |
| HP:0011124 | Abnormality of epidermal morphology | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0025164 | Increased number of elastic fibers in the dermis | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0005585 | Spotty hyperpigmentation | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000606 | Abnormality of the periorbital region | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0007473 | Crusting erythematous dermatitis | |
| HP:0012322 | Perifolliculitis | |
| HP:0000989 | Pruritus | |
| Very rare (<4-1%) | ||
| HP:0011830 | Abnormal oral mucosa morphology | |
| Excluded (0%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001005 | Dermatological manifestations of systemic disorders | |
| HP:0000819 | Diabetes mellitus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24891662[PMID]_20101333[PMID]_17567305[PMID]_4425619[PMID]_4166922[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79147
- This record as JSON: /data/d/79147.json