Familial reactive perforating collagenosis

General Information (adopted from Orphanet):

Synonyms, Signs: RPC
Number of Symptoms 5
OrphanetNr: 79147
OMIM Id: 216700
ICD-10: L87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis elastic tissue disorder
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(OMIM) Collagen fiber extrusion through the epidermis 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Recurrent umbilicated papules, sun-exposed skin, lips and mouth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Reactive perforating collagenosis, characterized by extrusion of collagen fibers through the epidermis, usually begins in infancy or childhood and appears clinically as recurrent umbilicated papules that resolve spontaneously in 6 to 8 weeks (summary by Trattner et al., ...