U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Amyloidosis, primary localized cutaneous, 1(PLCA1; PCA1)

MedGen UID:
1639046
Concept ID:
C4551501
Disease or Syndrome
Synonyms: Amyloidosis 9; Amyloidosis IX; AMYLOIDOSIS, PRIMARY CUTANEOUS, 1; Lichen amyloidosis familial
 
Gene (location): OSMR (5p13.1)
 
Monarch Initiative: MONDO:0024522
OMIM®: 105250

Definition

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.

In some affected individuals, the patches have characteristics of both lichen and macular amyloidosis. These cases are called biphasic amyloidosis.

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 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.

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.

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. [from MedlinePlus Genetics]

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.
Lichenification
MedGen UID:
452108
Concept ID:
C0023653
Pathologic Function
Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
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.
Scaling skin
MedGen UID:
472970
Concept ID:
C0237849
Finding
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.

Professional guidelines

Recent clinical studies

Etiology

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
Bhoyrul B, Ng A, Laws PM, Mathew B, Shanmugam S
Am J Dermatopathol 2019 May;41(5):382-385. doi: 10.1097/DAD.0000000000001288. PMID: 30308545
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
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243
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

Diagnosis

Requena C, Diago A, Traves V, Llombart B, Nagore E, Sanmartin O
Am J Dermatopathol 2022 Oct 1;44(10):760-763. Epub 2022 Jul 19 doi: 10.1097/DAD.0000000000002263. PMID: 35925553
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
Ritchie SA, Beachkofsky T, Schreml S, Gaspari A, Hivnor CM
Cutis 2014 Feb;93(2):89-94. PMID: 24605345
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
Breathnach SM
J Am Acad Dermatol 1988 Jan;18(1 Pt 1):1-16. doi: 10.1016/s0190-9622(88)70001-8. PMID: 3279077

Therapy

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
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
Ritchie SA, Beachkofsky T, Schreml S, Gaspari A, Hivnor CM
Cutis 2014 Feb;93(2):89-94. PMID: 24605345
Tong PL, Walker WA, Glancy RJ, Cooney JP, Gebauer K
Australas J Dermatol 2013 Feb;54(1):e12-5. Epub 2011 May 31 doi: 10.1111/j.1440-0960.2011.00770.x. PMID: 23373889
Breathnach SM
J Am Acad Dermatol 1988 Jan;18(1 Pt 1):1-16. doi: 10.1016/s0190-9622(88)70001-8. PMID: 3279077

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
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
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243
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
Breathnach SM
J Am Acad Dermatol 1988 Jan;18(1 Pt 1):1-16. doi: 10.1016/s0190-9622(88)70001-8. PMID: 3279077

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
Tey HL, Cao T, Nattkemper LA, Tan VW, Pramono ZA, Yosipovitch G
Br J Dermatol 2016 Jun;174(6):1345-50. Epub 2016 Mar 15 doi: 10.1111/bjd.14391. PMID: 26748444
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
Looi LM
Australas J Dermatol 1991;32(1):39-44. doi: 10.1111/j.1440-0960.1991.tb00681.x. PMID: 1930004

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
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...