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Amyloidosis cutis dyschromia(ACD)

MedGen UID:
1641859
Concept ID:
C4554601
Disease or Syndrome
Synonyms: ACD; AMYLOIDOSIS CUTIS DYSCHROMICA
SNOMED CT: Amyloidosis cutis dyschromia (764849002); Amyloidosis cutis dyschromica (764849002)
 
Monarch Initiative: MONDO:0017906
OMIM®: 617920
Orphanet: ORPHA319635

Definition

A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAmyloidosis cutis dyschromia

Recent clinical studies

Diagnosis

Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
Am J Hum Genet 2018 Feb 1;102(2):219-232. Epub 2018 Jan 11 doi: 10.1016/j.ajhg.2017.12.012. PMID: 29336782Free PMC Article
Kuseyri O, Haas D, Lang N, Schäkel K, Bettendorf M
Pediatrics 2017 May;139(5) doi: 10.1542/peds.2016-0170. PMID: 28557715
Al-Dawsari NA, Shahab RK
Dermatol Online J 2014 Apr 16;20(4):22328. PMID: 24746296
Yang W, Lin Y, Yang J, Lin W
BMC Dermatol 2011 Feb 15;11:4. doi: 10.1186/1471-5945-11-4. PMID: 21320354Free PMC Article

Therapy

Cho TH, Lee MH
Clin Exp Dermatol 2008 May;33(3):291-3. Epub 2008 Feb 2 doi: 10.1111/j.1365-2230.2007.02653.x. PMID: 18261143

Clinical prediction guides

Yang CF, Lin SP, Chiang CP, Wu YH, H'ng WS, Chang CP, Chen YT, Wu JY
Am J Hum Genet 2018 Feb 1;102(2):219-232. Epub 2018 Jan 11 doi: 10.1016/j.ajhg.2017.12.012. PMID: 29336782Free PMC Article

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