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Cryofibrinogenemia, familial primary

MedGen UID:
377679
•Concept ID:
C1852457
•
Disease or Syndrome
Synonym: Cryofibrinogenemia, Familial Primary
 
Monarch Initiative: MONDO:0007406
OMIM®: 123540

Clinical features

From HPO
Hematuria
MedGen UID:
5488
•Concept ID:
C0018965
•
Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
See: Feature record | Search on this feature
Transient nephrotic syndrome
MedGen UID:
870203
•Concept ID:
C4024638
•
Disease or Syndrome
See: Feature record | Search on this feature
Acrocyanosis
MedGen UID:
65138
•Concept ID:
C0221347
•
Finding
Bluish discoloration of the skin of the hands or feet.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Images in clinical medicine. Familial primary cryofibrinogenemia.
Begin P, Leclerc G
N Engl J Med 2013 Aug 22;369(8):e10. doi: 10.1056/NEJMicm1300987. PMID: 23964955
Cutaneous cryosurgery.
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
Familial primary cryofibrinogenemia.
van Geest AJ, van Dooren-Greebe RJ, Andriessen MP, Blomjous CE, Go IH
J Eur Acad Dermatol Venereol 1999 Jan;12(1):47-50. PMID: 10188150
Idiopathic perniosis and its mimics: a clinical and histological study of 38 cases.
Crowson AN, Magro CM
Hum Pathol 1997 Apr;28(4):478-84. doi: 10.1016/s0046-8177(97)90038-1. PMID: 9104949

Therapy

Cutaneous cryosurgery.
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984

Clinical prediction guides

Cutaneous cryosurgery.
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
Idiopathic perniosis and its mimics: a clinical and histological study of 38 cases.
Crowson AN, Magro CM
Hum Pathol 1997 Apr;28(4):478-84. doi: 10.1016/s0046-8177(97)90038-1. PMID: 9104949

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