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Familial reactive perforating collagenosis(RPC)

MedGen UID:
347504
•Concept ID:
C1857624
•
Disease or Syndrome
Synonym: Collagenosis, Familial Reactive Perforating
 
Monarch Initiative: MONDO:0009000
OMIM®: 216700
Orphanet: ORPHA79147

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. [from ORDO]

Clinical features

From HPO
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Abnormality of the skin
MedGen UID:
1845238
•Concept ID:
C5848159
•
Anatomical Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases.
Ramesh V, Sood N, Kubba A, Singh B, Makkar R
J Eur Acad Dermatol Venereol 2007 Jul;21(6):766-70. doi: 10.1111/j.1468-3083.2006.02085.x. PMID: 17567305

Diagnosis

Familial reactive perforating collagenosis: a clinical, histopathological study of 10 cases.
Ramesh V, Sood N, Kubba A, Singh B, Makkar R
J Eur Acad Dermatol Venereol 2007 Jul;21(6):766-70. doi: 10.1111/j.1468-3083.2006.02085.x. PMID: 17567305

Therapy

Familial reactive perforating collagenosis and intolerance to cold.
Kanan MW
Br J Dermatol 1974 Oct;91(4):405-14. doi: 10.1111/j.1365-2133.1974.tb13078.x. PMID: 4425619

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