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Amyloidosis, primary localized cutaneous, 3(PLCA3)

MedGen UID:
1640641
Concept ID:
C4554421
Disease or Syndrome
Synonym: AMYLOIDOSIS CUTIS DYSCHROMICA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GPNMB (7p15.3)
 
Monarch Initiative: MONDO:0054765
OMIM®: 617920

Definition

Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis (Huang et al. (2009); Mahon et al., 2016). For a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see 105250. [from OMIM]

Clinical features

From HPO
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Hypermelanotic macule
MedGen UID:
375013
Concept ID:
C1842774
Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.

Recent clinical studies

Etiology

Saki N, Ahramiyanpour N, Heiran A, Alipour S, Parvizi MM
Dermatol Ther 2020 May;33(3):e13305. Epub 2020 Mar 25 doi: 10.1111/dth.13305. PMID: 32160368
Sobhi RM, Sharaoui I, El Nabarawy EA, El Nemr Esmail RS, Hegazy RA, Aref DHF
Lasers Med Sci 2018 May;33(4):909-916. Epub 2018 Feb 26 doi: 10.1007/s10103-018-2457-1. PMID: 29480422
LaChance A, Phelps A, Finch J, Lu J, Elaba Z, Rezuke W, Murphy MJ
Clin Exp Dermatol 2014 Apr;39(3):344-7. doi: 10.1111/ced.12305. PMID: 24635076
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
Meijer JM, Schonland SO, Palladini G, Merlini G, Hegenbart U, Ciocca O, Perfetti V, Leijsma MK, Bootsma H, Hazenberg BP
Arthritis Rheum 2008 Jul;58(7):1992-9. doi: 10.1002/art.23617. PMID: 18576343

Diagnosis

Thompson CT, Kolivras A
J Cutan Pathol 2021 Mar;48(3):351-355. Epub 2020 Sep 28 doi: 10.1111/cup.13864. PMID: 32894601
Smithee A, Garcia A, Tschen J, Schmidt J
Skinmed 2019;17(2):131-133. Epub 2019 May 29 PMID: 31145068
Ma H, Su X, Zhu G, Yin S, Lu C, Lai W
An Bras Dermatol 2016 Sep-Oct;91(5):661-663. doi: 10.1590/abd1806-4841.20164316. PMID: 27828646Free PMC Article
Chia B, Tan A, Tey HL
J Eur Acad Dermatol Venereol 2014 Jun;28(6):810-3. Epub 2013 Mar 12 doi: 10.1111/jdv.12144. PMID: 23489336
Yoneyama K, Tochigi N, Oikawa A, Shinkai H, Utani A
J Dermatol 2005 Feb;32(2):120-3. doi: 10.1111/j.1346-8138.2005.tb00728.x. PMID: 15906542

Therapy

Thompson CT, Kolivras A
J Cutan Pathol 2021 Mar;48(3):351-355. Epub 2020 Sep 28 doi: 10.1111/cup.13864. PMID: 32894601
Saki N, Ahramiyanpour N, Heiran A, Alipour S, Parvizi MM
Dermatol Ther 2020 May;33(3):e13305. Epub 2020 Mar 25 doi: 10.1111/dth.13305. PMID: 32160368
Sobhi RM, Sharaoui I, El Nabarawy EA, El Nemr Esmail RS, Hegazy RA, Aref DHF
Lasers Med Sci 2018 May;33(4):909-916. Epub 2018 Feb 26 doi: 10.1007/s10103-018-2457-1. PMID: 29480422
Koh WS, Oh EH, Kim JE, Ro YS
Dermatol Ther 2017 Nov;30(6) Epub 2017 Sep 14 doi: 10.1111/dth.12537. PMID: 28906049
Ma H, Su X, Zhu G, Yin S, Lu C, Lai W
An Bras Dermatol 2016 Sep-Oct;91(5):661-663. doi: 10.1590/abd1806-4841.20164316. PMID: 27828646Free PMC Article

Prognosis

Jhorar P, Torre K, Lu J
J Am Acad Dermatol 2018 Oct;79(4):736-745. Epub 2018 May 19 doi: 10.1016/j.jaad.2018.05.021. PMID: 29787840
Koh WS, Oh EH, Kim JE, Ro YS
Dermatol Ther 2017 Nov;30(6) Epub 2017 Sep 14 doi: 10.1111/dth.12537. PMID: 28906049
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
Salim T, Shenoi SD, Balachandran C, Mehta VR
Indian J Dermatol Venereol Leprol 2005 May-Jun;71(3):166-9. doi: 10.4103/0378-6323.16230. PMID: 16394404

Clinical prediction guides

Saki N, Ahramiyanpour N, Heiran A, Alipour S, Parvizi MM
Dermatol Ther 2020 May;33(3):e13305. Epub 2020 Mar 25 doi: 10.1111/dth.13305. PMID: 32160368
Sobhi RM, Sharaoui I, El Nabarawy EA, El Nemr Esmail RS, Hegazy RA, Aref DHF
Lasers Med Sci 2018 May;33(4):909-916. Epub 2018 Feb 26 doi: 10.1007/s10103-018-2457-1. PMID: 29480422
Chia B, Tan A, Tey HL
J Eur Acad Dermatol Venereol 2014 Jun;28(6):810-3. Epub 2013 Mar 12 doi: 10.1111/jdv.12144. PMID: 23489336
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
Meijer JM, Schonland SO, Palladini G, Merlini G, Hegenbart U, Ciocca O, Perfetti V, Leijsma MK, Bootsma H, Hazenberg BP
Arthritis Rheum 2008 Jul;58(7):1992-9. doi: 10.1002/art.23617. PMID: 18576343

Recent systematic reviews

Alhatem A, Patel N, Lambert WC, Heller DS
J Low Genit Tract Dis 2019 Jul;23(3):235-240. doi: 10.1097/LGT.0000000000000478. PMID: 31149956

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