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Familial acanthosis nigricans

MedGen UID:
419638
•Concept ID:
C2930792
•
Disease or Syndrome
Synonyms: acanthosis nigricans; familial acanthosis nigricans; hereditary acanthosis nigricans (disease)
 
Monarch Initiative: MONDO:0043003
OMIM®: 100600

Definition

An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. [from MONDO]

Clinical features

From HPO
Acanthosis nigricans
MedGen UID:
54
•Concept ID:
C0000889
•
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Familial acanthosis nigricans. A longitudinal study.
Friedman CI, Richards S, Kim MH
J Reprod Med 1987 Jul;32(7):531-6. PMID: 3305929

Diagnosis

Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
Ichiyama S, Funasaka Y, Otsuka Y, Takayama R, Kawana S, Saeki H, Kubo A
J Eur Acad Dermatol Venereol 2016 Mar;30(3):442-5. Epub 2016 Jan 27 doi: 10.1111/jdv.13580. PMID: 26818779
Familial acanthosis nigricans.
Tasjian D, Jarratt M
Arch Dermatol 1984 Oct;120(10):1351-4. PMID: 6486848

Therapy

Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
Ichiyama S, Funasaka Y, Otsuka Y, Takayama R, Kawana S, Saeki H, Kubo A
J Eur Acad Dermatol Venereol 2016 Mar;30(3):442-5. Epub 2016 Jan 27 doi: 10.1111/jdv.13580. PMID: 26818779
Familial acanthosis nigricans. A longitudinal study.
Friedman CI, Richards S, Kim MH
J Reprod Med 1987 Jul;32(7):531-6. PMID: 3305929

Prognosis

Familial acanthosis nigricans. A longitudinal study.
Friedman CI, Richards S, Kim MH
J Reprod Med 1987 Jul;32(7):531-6. PMID: 3305929

Clinical prediction guides

Familial acanthosis nigricans due to K650T FGFR3 mutation.
Berk DR, Spector EB, Bayliss SJ
Arch Dermatol 2007 Sep;143(9):1153-6. doi: 10.1001/archderm.143.9.1153. PMID: 17875876

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