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Amyloidosis, primary localized cutaneous, 3(PLCA3)

MedGen UID:
1640641
Concept ID:
C4554421
Disease or Syndrome
Synonym: AMYLOIDOSIS CUTIS DYSCHROMICA
 
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.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
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.
Hypopigmented macule
MedGen UID:
760487
Concept ID:
C2047793
Finding
A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
Generalized hyperpigmentation
MedGen UID:
870432
Concept ID:
C4024878
Finding

Professional guidelines

PubMed

Guillet C, Steinmann S, Maul JT, Kolm I
Dermatology 2022;238(3):579-586. Epub 2021 Sep 15 doi: 10.1159/000518948. PMID: 34525472Free PMC Article
Lueangarun S, Tempark T
J Cosmet Laser Ther 2021 May 19;23(3-4):55-58. Epub 2021 Sep 8 doi: 10.1080/14764172.2021.1975756. PMID: 34493149
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

Recent clinical studies

Etiology

Guillet C, Steinmann S, Maul JT, Kolm I
Dermatology 2022;238(3):579-586. Epub 2021 Sep 15 doi: 10.1159/000518948. PMID: 34525472Free PMC Article
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
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
Mekinian A, Jaccard A, Soussan M, Launay D, Berthier S, Federici L, Lefèvre G, Valeyre D, Dhote R, Fain O; Centre de Référence des Amyloses immunoglobulinémiques et autres maladies liées aux dépots des immunoglobulines monoclonales
Amyloid 2012 Jun;19(2):94-8. Epub 2012 May 16 doi: 10.3109/13506129.2012.682833. PMID: 22587492
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

Guillet C, Steinmann S, Maul JT, Kolm I
Dermatology 2022;238(3):579-586. Epub 2021 Sep 15 doi: 10.1159/000518948. PMID: 34525472Free PMC Article
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
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
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
Mekinian A, Jaccard A, Soussan M, Launay D, Berthier S, Federici L, Lefèvre G, Valeyre D, Dhote R, Fain O; Centre de Référence des Amyloses immunoglobulinémiques et autres maladies liées aux dépots des immunoglobulines monoclonales
Amyloid 2012 Jun;19(2):94-8. Epub 2012 May 16 doi: 10.3109/13506129.2012.682833. PMID: 22587492

Therapy

Guillet C, Steinmann S, Maul JT, Kolm I
Dermatology 2022;238(3):579-586. Epub 2021 Sep 15 doi: 10.1159/000518948. PMID: 34525472Free PMC Article
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
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
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
Mahmood S, Bridoux F, Venner CP, Sachchithanantham S, Gilbertson JA, Rowczenio D, Wagner T, Sayed R, Patel K, Fontana M, Whelan CJ, Lachmann HJ, Hawkins PN, Gillmore JD, Wechalekar AD
Lancet Haematol 2015 Jun;2(6):e241-50. Epub 2015 May 6 doi: 10.1016/S2352-3026(15)00068-X. PMID: 26688234
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

Guillet C, Steinmann S, Maul JT, Kolm I
Dermatology 2022;238(3):579-586. Epub 2021 Sep 15 doi: 10.1159/000518948. PMID: 34525472Free PMC Article
Walsh NM, Lano IM, Green P, Gallant C, Pasternak S, Ly TY, Requena L, Kutzner H, Chott A, Cerroni L
Am J Surg Pathol 2017 Aug;41(8):1069-1076. doi: 10.1097/PAS.0000000000000861. PMID: 28505007
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
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

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