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Familial primary localized cutaneous amyloidosis

MedGen UID:
725603
Concept ID:
C1304242
Disease or Syndrome
Synonyms: Familial localized cutaneous amyloidosis; familial primary localized cutaneous amyloidosis; FPLCA; hereditary primary cutaneous amyloidosis; primary localised cutaneous amyloidosis; primary localized cutaneous amyloidosis
SNOMED CT: Familial localized cutaneous amyloidosis (402463003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007101
OMIM® Phenotypic series: PS105250
Orphanet: ORPHA353220

Definition

A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial primary localized cutaneous amyloidosis

Professional guidelines

PubMed

Fawzy MM, Kamel MM, El Maadawi Z, Abdel Hady R, Osman MA
Dermatol Surg 2021 Jul 1;47(7):e205-e211. doi: 10.1097/DSS.0000000000002994. PMID: 33731571
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017
Al Yahya RS
Lasers Med Sci 2016 Jul;31(5):1027-35. Epub 2016 Mar 16 doi: 10.1007/s10103-016-1917-8. PMID: 26984345

Recent clinical studies

Etiology

Sakuma TH, Hans-Filho G, Arita K, Odashiro M, Odashiro DN, Hans NR, Hans-Neto G, McGrath JA
Arch Dermatol 2009 Jun;145(6):695-9. doi: 10.1001/archdermatol.2009.107. PMID: 19528426

Prognosis

Sakuma TH, Hans-Filho G, Arita K, Odashiro M, Odashiro DN, Hans NR, Hans-Neto G, McGrath JA
Arch Dermatol 2009 Jun;145(6):695-9. doi: 10.1001/archdermatol.2009.107. PMID: 19528426

Clinical prediction guides

Sakuma TH, Hans-Filho G, Arita K, Odashiro M, Odashiro DN, Hans NR, Hans-Neto G, McGrath JA
Arch Dermatol 2009 Jun;145(6):695-9. doi: 10.1001/archdermatol.2009.107. PMID: 19528426

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