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Amyloidosis, primary localized cutaneous, 2(PLCA2)

MedGen UID:
462754
Concept ID:
C3151404
Disease or Syndrome
Synonym: PLCA2
 
Gene (location): IL31RA (5q11.2)
 
Monarch Initiative: MONDO:0013502
OMIM®: 613955

Definition

Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). For a general description and a discussion of genetic heterogeneity of PLCA, see 105250. [from OMIM]

Additional description

From MedlinePlus Genetics
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.

In all forms of PLCA, the abnormal patches of skin usually arise in mid-adulthood. They can remain for months to years and may recur after disappearing, either at the same location or elsewhere. Very rarely, nodular amyloidosis progresses to a life-threatening condition called systemic amyloidosis, in which amyloid deposits accumulate in tissues and organs throughout the body.

Lichen amyloidosis is characterized by severely itchy patches of thickened skin with multiple small bumps. The patches are scaly and reddish brown in color. These patches usually occur on the shins but can also occur on the forearms, other parts of the legs, and elsewhere on the body.

In macular amyloidosis, the patches are flat and dark brown. The coloring can have a lacy (reticulated) or rippled appearance, although it is often uniform. Macular amyloidosis patches are most commonly found on the upper back, but they can also occur on other parts of the torso or on the limbs. These patches are mildly itchy.

Nodular amyloidosis is characterized by firm, raised bumps (nodules) that are pink, red, or brown. These nodules often occur on the face, torso, limbs, or genitals and are typically not itchy.

In some affected individuals, the patches have characteristics of both lichen and macular amyloidosis. These cases are called biphasic amyloidosis.  https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis

Clinical features

From HPO
Cutaneous amyloidosis
MedGen UID:
120635
Concept ID:
C0268397
Disease or Syndrome
Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis Primary localized cutaneous amyloidosis-2 (PLCA2; 613955) is caused by heterozygous mutation in the IL31RA gene (609510) on chromosome 5q11. Primary localized cutaneous amyloidosis-3 (PLCA3; 617920) is caused by mutation in the GPNMB gene (604368) on chromosome 7p15.
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.

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
Luo YJ, Gao XH, Chen HD, Li YH
J Cosmet Laser Ther 2021 Feb 17;23(1-2):16-18. Epub 2021 Jul 27 doi: 10.1080/14764172.2017.1307412. PMID: 28426270

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
Sinha A, Manjunath GV, Basavaraj V
Indian J Pathol Microbiol 2021 Apr-Jun;64(2):323-328. doi: 10.4103/IJPM.IJPM_32_20. PMID: 33851627
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243
Borowicz J, Gillespie M, Miller R
Skinmed 2011 Mar-Apr;9(2):96-100; quiz 101. PMID: 21548513
Kibbi AG, Rubeiz NG, Zaynoun ST, Kurban AK
Int J Dermatol 1992 Feb;31(2):95-8. doi: 10.1111/j.1365-4362.1992.tb03245.x. PMID: 1559750

Diagnosis

Aung T, Noakes R, Murrell DF, Daniel BS, Kelati A
Australas J Dermatol 2023 May;64(2):e121-e124. Epub 2023 Feb 24 doi: 10.1111/ajd.14012. PMID: 36825814
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
Sinha A, Manjunath GV, Basavaraj V
Indian J Pathol Microbiol 2021 Apr-Jun;64(2):323-328. doi: 10.4103/IJPM.IJPM_32_20. PMID: 33851627
Shumway NK, Cole E, Fernandez KH
J Am Acad Dermatol 2016 Feb;74(2):215-28; quiz 229-30. doi: 10.1016/j.jaad.2015.04.059. PMID: 26775772
Borowicz J, Gillespie M, Miller R
Skinmed 2011 Mar-Apr;9(2):96-100; quiz 101. PMID: 21548513

Therapy

Ahramiyanpour N, Akbari Z, Sarasyabi MS, Aflatoonian M, Saki N, Shafie'ei M
Lasers Med Sci 2022 Mar;37(2):799-813. Epub 2021 Oct 6 doi: 10.1007/s10103-021-03429-4. PMID: 34611800
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
Luo YJ, Gao XH, Chen HD, Li YH
J Cosmet Laser Ther 2021 Feb 17;23(1-2):16-18. Epub 2021 Jul 27 doi: 10.1080/14764172.2017.1307412. PMID: 28426270
Ritchie SA, Beachkofsky T, Schreml S, Gaspari A, Hivnor CM
Cutis 2014 Feb;93(2):89-94. PMID: 24605345
Wenson SF, Jessup CJ, Johnson MM, Cohen LM, Mahmoodi M
J Cutan Pathol 2012 Feb;39(2):263-9. Epub 2011 Nov 12 doi: 10.1111/j.1600-0560.2011.01812.x. PMID: 22077601

Prognosis

Luo YJ, Gao XH, Chen HD, Li YH
J Cosmet Laser Ther 2021 Feb 17;23(1-2):16-18. Epub 2021 Jul 27 doi: 10.1080/14764172.2017.1307412. PMID: 28426270
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
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243
Zhang HY, Liu AL, Zhou LS, He MX, Wang JX
Chin J Cancer 2010 Jun;29(6):634-40. doi: 10.5732/cjc.009.10627. PMID: 20507739
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

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
Soriano LF, McGrath C, Hawthorne M, Ekeowa-Anderson AL
Dermatol Online J 2018 Mar 7;24(2) PMID: 29630157
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
Wenson SF, Jessup CJ, Johnson MM, Cohen LM, Mahmoodi M
J Cutan Pathol 2012 Feb;39(2):263-9. Epub 2011 Nov 12 doi: 10.1111/j.1600-0560.2011.01812.x. PMID: 22077601
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

Recent systematic reviews

Ahramiyanpour N, Akbari Z, Sarasyabi MS, Aflatoonian M, Saki N, Shafie'ei M
Lasers Med Sci 2022 Mar;37(2):799-813. Epub 2021 Oct 6 doi: 10.1007/s10103-021-03429-4. PMID: 34611800
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243

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