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Pemphigus vulgaris, familial

MedGen UID:
358227
Concept ID:
C1868502
Disease or Syndrome
Synonym: Familial pemphigus vulgaris
 
OMIM®: 169610

Definition

Pemphigus vulgaris (PV) is a rare, blistering autoimmune disease that affects the skin and mucous membranes. Patients have circulating antibody to an intercellular cement substance, and deposition in vivo of this antibody is a hallmark of the disease. The antibody appears to be pathogenetic, since newborn infants of mothers with pemphigus may have blisters, and newborn mice injected with the antibody from patients have clinical pemphigus. The disease is reported to have a particularly high incidence among Jews (summary by Ahmed et al., 1990). [from OMIM]

Clinical features

From HPO
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Autoimmune antibody positivity
MedGen UID:
868268
Concept ID:
C4022660
Finding
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Oral mucosal blisters
MedGen UID:
208888
Concept ID:
C0853945
Sign or Symptom
Blisters arising in the mouth.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

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