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Atrophia maculosa varioliformis cutis, familial(AMVC)

MedGen UID:
371334
Concept ID:
C1832465
Disease or Syndrome
Synonyms: AMVC; VARIOLIFORM MACULAR ATROPHY OF THE SKIN
 
Monarch Initiative: MONDO:0011039
OMIM®: 601341

Clinical features

From HPO
Abnormality of the skin
MedGen UID:
1845238
Concept ID:
C5848159
Anatomical Abnormality
An abnormality of the skin.
Macular atrophy
MedGen UID:
140841
Concept ID:
C0423421
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.

Recent clinical studies

Diagnosis

Quintana Castanedo L, Beato Merino MJ, Nuño González A
JAMA Dermatol 2019 Feb 1;155(2):245-246. doi: 10.1001/jamadermatol.2018.3899. PMID: 30427986

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