PCA
MCID: PRM001
MIFTS: 43

Primary Cutaneous Amyloidosis (PCA)

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

Aliases & Classifications for Primary Cutaneous Amyloidosis

MalaCards integrated aliases for Primary Cutaneous Amyloidosis:

Name: Primary Cutaneous Amyloidosis 12 74 52 25 58 15
Primary Localized Cutaneous Amyloidosis 52 25 58
Plca 52 25 58
Familial Primary Localized Cutaneous Amyloidosis 12 58
Amyloidosis, Primary Cutaneous 54 71
Amyloidosis Ix 52 25
Amyloidosis Familial Cutaneous Lichen 52
Lichen Amyloidosis Familial 52
Familial Lichen Amyloidosis 71
Amyloidosis 9 52
Fplca 58
Pca 12

Characteristics:

Orphanet epidemiological data:

58
primary cutaneous amyloidosis
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages;
familial primary localized cutaneous amyloidosis
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0050639
ICD10 via Orphanet 33 E85.4+ L99.0*
UMLS via Orphanet 72 C0268397
UMLS 71 C0268397 C0268398

Summaries for Primary Cutaneous Amyloidosis

Genetics Home Reference : 25 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. 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. 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.

MalaCards based summary : Primary Cutaneous Amyloidosis, also known as primary localized cutaneous amyloidosis, is related to amyloidosis and lichen amyloidosis. An important gene associated with Primary Cutaneous Amyloidosis is OSMR (Oncostatin M Receptor), and among its related pathways/superpathways are Focal Adhesion and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and thyroid.

Disease Ontology : 12 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis.

NIH Rare Diseases : 52 Primary cutaneous amyloidosis is a form of amyloidosis , a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis: Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals. The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis , sarcoidosis , and psoriasis . Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes (mutations ) in the OSMR or IL31RA gene . Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching.

Wikipedia : 74 Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type... more...

Related Diseases for Primary Cutaneous Amyloidosis

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 Primary Cutaneous Amyloidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 278)
# Related Disease Score Top Affiliating Genes
1 amyloidosis 31.8 TTN TNNI3 OSMR KRT10 IL31RA
2 lichen amyloidosis 31.6 OSMR IL31RA IL31
3 macular amyloidosis 31.5 OSMR IL31RA
4 bullous pemphigoid 30.7 KRT5 KRT14 IL31
5 posterior cortical atrophy 12.1
6 amyloidosis, primary localized cutaneous, 1 11.8
7 amyloidosis, primary localized cutaneous, 3 11.7
8 choanal atresia, posterior 11.4
9 pain agnosia 10.9
10 sweat gland neoplasm 10.7 KRT5 KRT14
11 benign breast adenomyoepithelioma 10.7 KRT5 KRT14
12 breast adenomyoepithelioma 10.7 KRT5 KRT14
13 pregnancy adenoma 10.7 KRT5 KRT14
14 esophageal basaloid squamous cell carcinoma 10.7 KRT5 KRT14
15 ceruminous adenocarcinoma 10.7 KRT5 KRT14
16 gastric squamous cell carcinoma 10.7 KRT5 KRT10
17 breast myoepithelial neoplasm 10.7 KRT5 KRT14
18 breast metaplastic carcinoma 10.7 KRT5 KRT14
19 epidermolysis bullosa simplex, autosomal recessive 1 10.7 KRT5 KRT14
20 odontoma 10.6 KRT5 KRT14
21 striate palmoplantar keratoderma 10.6 KRT14 KRT10
22 breast myoepithelial carcinoma 10.6 KRT5 KRT14
23 pericardial mesothelioma 10.6 KRT5 KRT10
24 lipid-rich carcinoma 10.6 KRT5 KRT14
25 large cell acanthoma 10.6 KRT5 KRT14 KRT10
26 eccrine sweat gland neoplasm 10.6 KRT5 KRT14 KRT10
27 epidermolysis bullosa simplex with mottled pigmentation 10.6 KRT5 KRT14 KRT10
28 eccrine acrospiroma 10.6 KRT5 KRT10
29 epidermolysis bullosa 10.6 KRT5 KRT14 KRT10
30 epidermolysis bullosa simplex 10.6 KRT5 KRT14 KRT10
31 borst-jadassohn intraepidermal carcinoma 10.6 KRT5 KRT14 KRT10
32 vesiculobullous skin disease 10.6 KRT5 KRT14 KRT10
33 pinguecula 10.6 KRT14 KRT10
34 epidermolysis bullosa simplex, dowling-meara type 10.6 KRT5 KRT14 KRT10
35 pachyonychia congenita 1 10.6 KRT5 KRT14 KRT10
36 palmoplantar keratoderma, epidermolytic 10.6 KRT5 KRT14 KRT10
37 micronodular basal cell carcinoma 10.6 KRT5 KRT14
38 familial isolated restrictive cardiomyopathy 10.6 TNNI3 MYL2
39 benign peritoneal mesothelioma 10.6 KRT5 KRT14
40 skin squamous cell carcinoma 10.6 KRT5 KRT14 KRT10
41 epidermolysis bullosa simplex, generalized 10.6 KRT5 KRT14
42 epidermolytic hyperkeratosis 10.6 KRT5 KRT14 KRT10
43 apocrine sweat gland neoplasm 10.6 KRT5 KRT14
44 thymus clear cell carcinoma 10.6 TTN KRT5
45 apocrine adenocarcinoma 10.6 KRT5 KRT14
46 clear cell basal cell carcinoma 10.6 KRT5 KRT14
47 intraductal breast neoplasm 10.6 KRT5 KRT14
48 epidermolysis bullosa simplex, localized 10.5 KRT5 KRT14
49 extrinsic cardiomyopathy 10.5 TTN TNNI3 CCL2
50 cystic basal cell carcinoma 10.5 KRT5 KRT14

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



Diseases related to Primary Cutaneous Amyloidosis

Symptoms & Phenotypes for Primary Cutaneous Amyloidosis

Drugs & Therapeutics for Primary Cutaneous Amyloidosis

Drugs for Primary Cutaneous Amyloidosis (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 Application of High Resolution Optical Coherence Tomography in Skin Disease: Amyloidosis and Differential Diagnosis Recruiting NCT04068077

Search NIH Clinical Center for Primary Cutaneous Amyloidosis

Genetic Tests for Primary Cutaneous Amyloidosis

Anatomical Context for Primary Cutaneous Amyloidosis

MalaCards organs/tissues related to Primary Cutaneous Amyloidosis:

40
Skin, Breast, Thyroid, Prostate, Liver, B Cells, Bone

Publications for Primary Cutaneous Amyloidosis

Articles related to Primary Cutaneous Amyloidosis:

(show top 50) (show all 246)
# Title Authors PMID Year
1
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. 61 6
19690585 2010
2
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. 61 6
18179886 2008
3
Treatment of primary cutaneous amyloidosis with laser: a review of the literature. 61 52
26984345 2016
4
A comparative study of the efficacy of fractional neodymium-doped yttrium aluminum garnet (Nd:YAG) laser therapy alone and in combination with erbium:YAG laser therapy: tracing and objective measurement of melanin index in macular amyloidosis. 61
31916020 2020
5
A Rare Presentation of Nodular Amyloidosis on the Lower Back. 61
31763087 2019
6
Nodular localized primary cutaneous amyloidosis and primary Sjögren's syndrome. 61
31578131 2019
7
A novel oncostatin M/interleukin-31 receptor mutation in familial primary localized cutaneous amyloidosis. 61
31478212 2019
8
Primary cutaneous amyloidosis of auricular concha. 61
31417070 2019
9
Dermoscopy of Primary Cutaneous Amyloidosis in Skin of Color. 61
31384505 2019
10
Sex differences of Chinese patients with primary localized cutaneous amyloidosis. 61
30740762 2019
11
Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis. 61
30734345 2019
12
In vivo Diagnosis of Primary Cutaneous Amyloidosis -the Role of Reflectance Confocal Microscopy. 61
31252549 2019
13
Primary Localized Cutaneous Amyloidosis Affecting Female Individuals of a Pakistani Pedigree. 61
30308545 2019
14
Late-onset amyloidosis cutis dyschromica: an unusual case. 61
31046910 2019
15
Interleukin-31-mediated photoablation of pruritogenic epidermal neurons reduces itch-associated behaviours in mice. 61
30944432 2019
16
Lichen amyloidosis successfully treated with fractional ablative laser CO2: A new alternative therapeutic. 61
29400590 2019
17
Clinicopathological Study of Primary Cutaneous Amyloidosis in a Tertiary Care Center of Eastern India Reveals Insignificant Association with Friction, Scrubbing, and Photo-Exposure: How valid is the "Keratinocyte Hypothesis"? 61
30745632 2019
18
Macular cutaneous amyloidosis treated with methyl aminolevulinate and daylight photodynamic therapy: A case report. 61
30800310 2019
19
Methotrexate for the Treatment of Recalcitrant Primary Localized Cutaneous Amyloidosis: A Case Series. 61
29944169 2018
20
Nodular amyloidosis in a patient with systemic scleroderma. 61
30677833 2018
21
Comparative study of fractional CO2 laser and fractional CO2 laser-assisted drug delivery of topical steroid and topical vitamin C in macular amyloidosis. 61
29480422 2018
22
An intensely pruritic pebbled presentation. 61
29630157 2018
23
Primary cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Sjögren syndrome: A case report. 61
29465536 2018
24
[Identification of pathogenic mutations in two Chinese families affected with primary localized cutaneous amyloidosis]. 61
29419851 2018
25
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. 61
29336782 2018
26
Corrigendum to "Familial primary localized cutaneous amyloidosis in a Japanese family" [J. Dermatol. Sci. 83 (2016) 162-164]. 61
29146130 2018
27
Atrophic nodular cutaneous amyloidosis. 61
29641709 2018
28
Lichen amyloidosis of the scalp and forehead. 61
29447646 2017
29
Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review. 61
28342017 2017
30
Current insight in the localized insulin-derived amyloidosis (LIDA): clinico-pathological characteristics and differential diagnosis. 61
28935176 2017
31
Comparative proteomics analysis of primary cutaneous amyloidosis. 61
28912854 2017
32
Successful treatment of lichen amyloidosis accompanied by atopic dermatitis by fractional CO2 laser. 61
28535110 2017
33
Reflectance confocal microscopy for the characterization of primary cutaneous amyloidosis: a pilot study. 61
28083882 2017
34
An unusual presentation of primary cutaneous amyloidosis. 61
29469741 2017
35
Primary Cutaneous Amyloidosis: A Clinical, Histopathological and Immunofluorescence Study. 61
28969251 2017
36
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. 61
28557715 2017
37
Primary cutaneous amyloidosis of the auricular concha - case report. 61
29186270 2017
38
Multifocal primary cutaneous nodular amyloidosis. 61
28537855 2017
39
Association of amyloidosis cutis dyschromica and familial Mediterranean fever. 61
29267436 2017
40
Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. 61
25866143 2016
41
Primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions and an excellent response to systemic acitretin. 61
27828646 2016
42
Familial primary localized cutaneous amyloidosis in a Japanese family. 61
27289340 2016
43
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis. 61
26941119 2016
44
Interleukin-31 receptor and pruritus associated with primary localized cutaneous amyloidosis: reply from the authors. 61
27312696 2016
45
Pathophysiology of pruritus in primary localized cutaneous amyloidosis. 61
26748444 2016
46
[Primary localized cutaneous nodular amyloidosis: A diagnostic and therapeutic challenge]. 61
26724842 2016
47
[Primary cutaneous amyloidosis of the external ear: A peculiar, unusual and benign entity]. 61
26433311 2016
48
Primary Localized Cutaneous Amyloidosis and Human Leukocyte Antigen A and -B in a Chinese Population. 61
27072740 2016
49
Poikiloderma-like cutaneous amyloidosis--a rare presentation of primary localized cutaneous amyloidosis. 61
26990468 2016
50
Nodular amyloidosis. 61
26990345 2015

Variations for Primary Cutaneous Amyloidosis

Expression for Primary Cutaneous Amyloidosis

Search GEO for disease gene expression data for Primary Cutaneous Amyloidosis.

Pathways for Primary Cutaneous Amyloidosis

Pathways related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 MYL9 MYL5 MYL2 MYL12A MYL10
2
Show member pathways
12.39 MYL9 MYL5 MYL2 MYL12A MYL1
3
Show member pathways
12.38 MYL9 MYL5 MYL2 MYL12A MYL10 CCL2
4
Show member pathways
12.34 TTN TNNT1 TNNI3 MYL9 MYL5 MYL2
5 12.31 TNNI3 MYL9 KRT5 KRT10
6 12.3 MYL9 MYL5 MYL2 MYL12A MYL10 MYL1
7
Show member pathways
12.18 MYL9 MYL5 MYL2 MYL1
8 12.17 MYL9 MYL5 MYL2 MYL12A MYL10
9
Show member pathways
12.11 MYL9 MYL5 MYL2 MYL12A MYL1
10 11.83 MYL9 MYL5 MYL2 MYL1
11 11.32 MYL9 MYL5 MYL2 MYL1
12 11.01 MYL9 MYL5 MYL12A MYL10
13 10.96 TTN TNNT1 TNNI3 MYL9 MYL2 MYL1
14 10.82 OSMR CCL2

GO Terms for Primary Cutaneous Amyloidosis

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.23 TTN TNNT1 TNNI3 MYL9 MYL5 MYL2
2 Z disc GO:0030018 9.65 TTN MYL9 MYL12A
3 contractile fiber GO:0043292 9.43 TNNI3 MYL1
4 myofibril GO:0030016 9.43 TNNI3 MYL2 MYL1
5 troponin complex GO:0005861 9.4 TNNT1 TNNI3
6 cardiac myofibril GO:0097512 9.37 TNNI3 MYL2
7 muscle myosin complex GO:0005859 9.33 MYL9 MYL5 MYL1
8 myosin II complex GO:0016460 9.32 MYL9 MYL12A
9 sarcomere GO:0030017 9.26 TTN TNNI3 MYL2 MYL1
10 myosin complex GO:0016459 9.02 MYL9 MYL5 MYL2 MYL12A MYL1

Biological processes related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.73 OSMR IL31RA IL31 CCL2
2 cornification GO:0070268 9.65 KRT5 KRT14 KRT10
3 regulation of muscle contraction GO:0006937 9.56 TNNT1 TNNI3 MYL9 MYL5
4 cardiac muscle contraction GO:0060048 9.55 TTN TNNT1 TNNI3 MYL2 MYL1
5 striated muscle contraction GO:0006941 9.46 TTN TNNI3
6 heart contraction GO:0060047 9.4 TNNI3 MYL2
7 cardiac myofibril assembly GO:0055003 9.37 TTN MYL2
8 muscle filament sliding GO:0030049 9.35 TTN TNNT1 TNNI3 MYL2 MYL1
9 hemidesmosome assembly GO:0031581 9.32 KRT5 KRT14
10 muscle contraction GO:0006936 9.23 TTN TNNT1 TNNI3 MYL9 MYL5 MYL12A

Molecular functions related to Primary Cutaneous Amyloidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 TTN TNNT1 MYL9 MYL5 MYL2 MYL12A
2 myosin heavy chain binding GO:0032036 9.26 MYL9 MYL2
3 troponin T binding GO:0031014 9.16 TNNT1 TNNI3
4 structural constituent of muscle GO:0008307 9.02 TTN MYL9 MYL5 MYL2 MYL1

Sources for Primary Cutaneous Amyloidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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