PLCA1
MCID: AMY060
MIFTS: 38

Amyloidosis, Primary Localized Cutaneous, 1 (PLCA1)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 1:

Name: Amyloidosis, Primary Localized Cutaneous, 1 57 74 13
Primary Localized Cutaneous Amyloidosis 1 29 6
Primary Localized Cutaneous Amyloidosis 74 37
Familial Lichen Amyloidosis 74 72
Amyloidosis Ix 57 74
Plca1 57 74
Pca 57 74
Amyloidosis, Primary Cutaneous, 1; Pca1 57
Amyloidosis, Familial Cutaneous Lichen 57
Amyloidosis, Primary Cutaneous, 1 57
Amyloidosis, Primary Cutaneous 72
Primary Cutaneous Amyloidosis 74
Lichen Amyloidosis, Familial 57
Amyloidosis Type 9 74
Pca1 57
Plca 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset may occur in childhood
symptoms typically start with severe pruritus on the lower legs


HPO:

32
amyloidosis, primary localized cutaneous, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

KEGG 37 H01217
MeSH 44 D028226
UMLS 72 C0268397 C0268398

Summaries for Amyloidosis, Primary Localized Cutaneous, 1

UniProtKB/Swiss-Prot : 74 Amyloidosis, primary localized cutaneous, 1: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

MalaCards based summary : Amyloidosis, Primary Localized Cutaneous, 1, also known as primary localized cutaneous amyloidosis 1, is related to lichen amyloidosis and thyroid carcinoma, familial medullary. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 1 is OSMR (Oncostatin M Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and JAK-STAT signaling pathway. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and liver, and related phenotypes are scaling skin and pruritus

OMIM : 57 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). (105250)

KEGG : 37
Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions comprise small, flat-top papules (lichen amyloidosis) or brown-gray macules (macular amyloidosis). PLCA is relatively common in South America and Asia, and some cases have an autosomal dominant family history (familial PLCA, FPLCA). The genetic basis of FPLCA involves mutations in the OSMR and IL31RA genes. Both belong to the family of interleukin (IL)-6 family cytokine receptors.

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 1

Diseases in the Primary Cutaneous Amyloidosis family:

Amyloidosis, Primary Localized Cutaneous, 1 Amyloidosis, Primary Localized Cutaneous, 2
Amyloidosis, Primary Localized Cutaneous, 3

Diseases related to Amyloidosis, Primary Localized Cutaneous, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 lichen amyloidosis 29.4 RET OSMR
2 thyroid carcinoma, familial medullary 28.9 RET OSMR
3 posterior cortical atrophy 12.1
4 amyloidosis, primary localized cutaneous, 3 11.7
5 pigmentary disorder, reticulate, with systemic manifestations, x-linked 11.4
6 choanal atresia, posterior 11.4
7 primary cutaneous amyloidosis 11.2
8 pain agnosia 10.9
9 macular amyloidosis 10.3
10 48,xyyy 10.3
11 prostate cancer 10.3
12 pneumocystosis 10.3
13 scoliosis 10.2
14 listeriosis 10.2
15 allergic hypersensitivity disease 10.2
16 aneurysm 10.2
17 amyloidosis 10.1
18 keratosis 10.1
19 alzheimer disease 10.1
20 prostatic hyperplasia, benign 10.1
21 mucositis 10.1
22 prostatic hypertrophy 10.1
23 prostatic adenoma 10.1
24 adenocarcinoma 10.1
25 osteoarthritis 10.1
26 dowling-degos disease 1 10.1
27 moyamoya disease 1 10.0
28 apraxia 10.0
29 constipation 10.0
30 ischemia 10.0
31 chronic pain 10.0
32 virus-associated trichodysplasia spinulosa 10.0
33 rare disease in surgical orthopedic 10.0
34 sarcoidosis 1 10.0
35 scleroderma, familial progressive 10.0
36 thyroid carcinoma 10.0
37 dermatitis, atopic 10.0
38 skin disease 10.0
39 esophageal cancer 10.0
40 motion sickness 10.0
41 pectus excavatum 10.0
42 lymphoma, hodgkin, classic 10.0
43 myopathy, myosin storage, autosomal recessive 10.0
44 arts syndrome 10.0
45 thoracoabdominal syndrome 10.0
46 sleep apnea 10.0
47 idiopathic scoliosis 10.0
48 pertussis 10.0
49 visual epilepsy 10.0
50 leukemia 10.0

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 1:



Diseases related to Amyloidosis, Primary Localized Cutaneous, 1

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 1

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scaling skin 32 HP:0040189
2 pruritus 32 HP:0000989
3 dry skin 32 HP:0000958
4 lichenification 32 HP:0100725
5 amyloidosis 32 HP:0011034
6 cutis laxa 32 HP:0000973
7 lattice corneal dystrophy 32 HP:0001149
8 abnormal cranial nerve morphology 32 HP:0001291

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
pruritus
dry skin
scaly skin
focal skin lichenification

Skin Nails Hair Skin Histology:
focal deposition of amyloid in dermal papillae
pigmentary incontinence
amorphous eosinophilic material in the papillary dermis
accentuated skin creases

Clinical features from OMIM:

105250

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 1

Drugs for Amyloidosis, Primary Localized Cutaneous, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational 61-73-4
2 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of 308-nm Excimer Laser for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study Unknown status NCT03068156
2 Efficacy of Methylene Blue Mediated Photodynamic Therapy for Primary Localized Cutaneous Amyloidosis Treatment in Asians: Pilot Study Unknown status NCT03068208
3 Blood Flow Measurement in Cervical and Cerebral Arteries Using Quantitative Magnetic Resonance Angiography and Cervical and Transcranial Duplex Sonography Recruiting NCT03591523

Search NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 1

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 1

Genetic tests related to Amyloidosis, Primary Localized Cutaneous, 1:

# Genetic test Affiliating Genes
1 Primary Localized Cutaneous Amyloidosis 1 29 OSMR

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 1

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 1:

41
Skin, Thyroid, Liver

Publications for Amyloidosis, Primary Localized Cutaneous, 1

Articles related to Amyloidosis, Primary Localized Cutaneous, 1:

(show top 50) (show all 128)
# Title Authors PMID Year
1
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. 38 8 71
18179886 2008
2
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. 8 71
19690585 2010
3
New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. 38 8
19663869 2009
4
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. 9 8
8757765 1996
5
Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. 9 8
8752835 1996
6
Genome-wide scan identifies a susceptibility locus for familial primary cutaneous amyloidosis on chromosome 5p13.1-q11.2. 8
17107390 2006
7
Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23. 8
15656797 2005
8
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. 8
9111993 1997
9
Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. 8
7914213 1994
10
Familial primary cutaneous amyloidosis. 8
3970841 1985
11
Familial lichen amyloidosis. 8
6724776 1984
12
Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family. 8
6945068 1981
13
Familial generalized dyschromic amyloidosis cutis. 8
993396 1976
14
Familial lichen amyloidosis. Report of 19 cases in 4 generations of a Chinese family in Malaysia. 8
5057380 1972
15
Interscapular cutaneous amyloidosis. 8
5430314 1970
16
Amyloidosis cutis. Familial occurrence in three generations. 8
13976058 1963
17
Sex differences of Chinese patients with primary localized cutaneous amyloidosis. 38
30740762 2019
18
Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis. 38
30734345 2019
19
Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree. 38
30308545 2019
20
Interleukin-31-mediated photoablation of pruritogenic epidermal neurons reduces itch-associated behaviours in mice. 38
30944432 2019
21
Lichen amyloidosis successfully treated with fractional ablative laser CO2: A new alternative therapeutic. 38
29400590 2019
22
Methotrexate for the Treatment of Recalcitrant Primary Localized Cutaneous Amyloidosis: A Case Series. 38
29944169 2018
23
Comparative study of fractional CO2 laser and fractional CO2 laser-assisted drug delivery of topical steroid and topical vitamin C in macular amyloidosis. 38
29480422 2018
24
An intensely pruritic pebbled presentation. 38
29630157 2018
25
[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis]. 38
29419851 2018
26
Corrigendum to "Familial primary localized cutaneous amyloidosis in a Japanese family" [J. Dermatol. Sci. 83 (2016) 162-164]. 38
29146130 2018
27
Lichen amyloidosis of the scalp and forehead. 38
29447646 2017
28
Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review. 38
28342017 2017
29
An unusual presentation of primary cutaneous amyloidosis. 38
29469741 2017
30
Primary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study. 38
28969251 2017
31
Primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions and an excellent response to systemic acitretin. 38
27828646 2016
32
Familial primary localized cutaneous amyloidosis in a Japanese family. 38
27289340 2016
33
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis: reply from the authors. 38
27312696 2016
34
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis. 38
26941119 2016
35
Pathophysiology of pruritus in primary localized cutaneous amyloidosis. 38
26748444 2016
36
[Primary localized cutaneous nodular amyloidosis: A diagnostic and therapeutic challenge]. 38
26724842 2016
37
Primary Localized Cutaneous Amyloidosis and Human Leukocyte Antigen A and -B in a Chinese Population. 38
27072740 2016
38
Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis. 38
26990468 2016
39
Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. 38
25792357 2015
40
Nodular amyloidosis derived from keratinocytes: an unusual type of primary localized cutaneous nodular amyloidosis. 38
26485243 2015
41
In vitro amyloidogenic peptides of galectin-7: possible mechanism of amyloidogenesis of primary localized cutaneous amyloidosis. 38
25172508 2014
42
Primary localized cutaneous amyloidosis: a clinical diagnosis. 38
25335358 2014
43
Primary localized cutaneous amyloidosis: association with atopic dermatitis. 38
23489336 2014
44
Nodular primary localized cutaneous amyloidosis in a patient with pulmonary sarcoidosis. 38
24891674 2014
45
An alternative treatment model: the combination therapy of narrow band ultraviolet B phototherapy and tacrolimus ointment 0.1% in biphasic amyloidosis. 38
25272550 2014
46
Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry. 38
24237668 2014
47
Successful treatment of lichen amyloidosis using a CO2 surgical laser. 38
24703261 2014
48
A novel missense mutation in oncostatin M receptor beta causing primary localized cutaneous amyloidosis. 38
25054142 2014
49
Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-β mutation, Pro694Leu. 38
23692662 2013
50
Primary localized cutaneous amyloidosis. 38
24365002 2013

Variations for Amyloidosis, Primary Localized Cutaneous, 1

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OSMR NM_003999.3(OSMR): c.2090A> C (p.Lys697Thr) single nucleotide variant Pathogenic rs387906823 5:38925351-38925351 5:38925249-38925249
2 OSMR NM_003999.3(OSMR): c.1940A> T (p.Asp647Val) single nucleotide variant Pathogenic rs387906821 5:38924593-38924593 5:38924491-38924491
3 OSMR NM_003999.3(OSMR): c.1853G> C (p.Gly618Ala) single nucleotide variant Pathogenic rs63750560 5:38923339-38923339 5:38923237-38923237
4 OSMR NM_003999.3(OSMR): c.2072T> C (p.Ile691Thr) single nucleotide variant Pathogenic rs63750567 5:38925333-38925333 5:38925231-38925231
5 OSMR NM_003999.3(OSMR): c.2081C> T (p.Pro694Leu) single nucleotide variant Likely pathogenic rs387906822 5:38925342-38925342 5:38925240-38925240

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 1:

74
# Symbol AA change Variation ID SNP ID
1 OSMR p.Gly618Ala VAR_043513 rs63750560
2 OSMR p.Ile691Thr VAR_043514 rs63750567
3 OSMR p.Asp647Val VAR_065810 rs387906821
4 OSMR p.Pro694Leu VAR_065811 rs387906822
5 OSMR p.Lys697Thr VAR_065812 rs387906823

Expression for Amyloidosis, Primary Localized Cutaneous, 1

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 1.

Pathways for Amyloidosis, Primary Localized Cutaneous, 1

Pathways related to Amyloidosis, Primary Localized Cutaneous, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 JAK-STAT signaling pathway hsa04630

GO Terms for Amyloidosis, Primary Localized Cutaneous, 1

Cellular components related to Amyloidosis, Primary Localized Cutaneous, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 RET OSMR

Sources for Amyloidosis, Primary Localized Cutaneous, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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