PLCA3
MCID: AMY111
MIFTS: 31

Amyloidosis, Primary Localized Cutaneous, 3 (PLCA3)

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

Aliases & Classifications for Amyloidosis, Primary Localized Cutaneous, 3

MalaCards integrated aliases for Amyloidosis, Primary Localized Cutaneous, 3:

Name: Amyloidosis, Primary Localized Cutaneous, 3 57 75 6
Amyloidosis Cutis Dyschromica 57 59 75
Plca3 57 75
Acd 57 75
Amyloidosis Cutis Dyschromica; Acd 57
Amyloidosis Cutis Dyschromia 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade of life
dyschromia increases and spreads initially then stabilizes
relative sparing of face and neck


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 617920
Orphanet 59 ORPHA319635
ICD10 via Orphanet 34 E85.4+ L99.0*
MedGen 42 CN895592
MeSH 44 D028226

Summaries for Amyloidosis, Primary Localized Cutaneous, 3

UniProtKB/Swiss-Prot : 75 Amyloidosis, primary localized cutaneous, 3: 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. PLCA3 inheritance is autosomal recessive.

MalaCards based summary : Amyloidosis, Primary Localized Cutaneous, 3, also known as amyloidosis cutis dyschromica, is related to alveolar capillary dysplasia with misalignment of pulmonary veins and dyskeratosis congenita, autosomal dominant 6. An important gene associated with Amyloidosis, Primary Localized Cutaneous, 3 is GPNMB (Glycoprotein Nmb). Affiliated tissues include skin, neutrophil and lung, and related phenotypes are pruritus and dry skin

OMIM : 57 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. (617920)

Related Diseases for Amyloidosis, Primary Localized Cutaneous, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 alveolar capillary dysplasia with misalignment of pulmonary veins 12.0
2 dyskeratosis congenita, autosomal dominant 6 11.9
3 alopecia-contractures-dwarfism mental retardation syndrome 11.9
4 alopecia-contractures-dwarfism-intellectual disability syndrome 11.9
5 dyskeratosis congenita 11.8
6 acute cholinergic dysautonomia 11.6
7 alveolar capillary dysplasia 11.6
8 allergic contact dermatitis 11.4
9 melanoma, cutaneous malignant 1 11.4
10 dyskeratosis congenita autosomal dominant 11.3
11 dyskeratosis congenita autosomal recessive 11.3
12 corneal dystrophy, avellino type 11.2
13 corneal dystrophy, reis-bucklers type 11.2
14 corneal dystrophy, congenital stromal 11.2
15 hereditary lymphedema i 11.2
16 acrofacial dysostosis, catania type 11.0
17 campomelic dysplasia 11.0
18 amyloidosis 10.9
19 dermatitis 10.2
20 contact dermatitis 10.2
21 familial mediterranean fever 10.2
22 primary cutaneous amyloidosis 10.2
23 spasticity 10.2
24 cardiac arrest 10.1
25 breast cancer 9.9
26 renal cell carcinoma, nonpapillary 9.9
27 rheumatoid arthritis 9.9
28 small cell cancer of the lung 9.9
29 glucocorticoid deficiency 1 9.9
30 lung cancer 9.9
31 coffin-lowry syndrome 9.9
32 alopecia 9.9
33 arthritis 9.9
34 leukemia 9.9
35 ulcerative colitis 9.9
36 metabolic acidosis 9.9
37 colitis 9.9
38 dementia 9.9
39 melanoma 9.9
40 spondylosis 9.9
41 iron metabolism disease 9.9
42 glioblastoma multiforme 9.9
43 bowenoid papulosis 9.9
44 dwarfism 9.9
45 glioblastoma 9.9
46 acquired cystic disease-associated renal cell carcinoma 9.9

Graphical network of the top 20 diseases related to Amyloidosis, Primary Localized Cutaneous, 3:



Diseases related to Amyloidosis, Primary Localized Cutaneous, 3

Symptoms & Phenotypes for Amyloidosis, Primary Localized Cutaneous, 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dry skin
hyperpigmented macules
hypopigmented macules
few pruritic papules
pruritis, mild
more
Skin Nails Hair Skin Electron Microscopy:
fibrillar aggregates near epidermal-dermal junction of hyperpigmented lesions
fibrillar aggregates in borders of hypo- and depigmented lesions

Skin Nails Hair Skin Histology:
amorphous eosinophilic material in papillary dermis
increased melanin in basal layer
amyloid deposits enriched in hyperpigmented lesions
elongated ridges surrounding hyperpigmented lesions
infiltration of immune cells around hyperpigmented lesions
more

Clinical features from OMIM:

617920

Human phenotypes related to Amyloidosis, Primary Localized Cutaneous, 3:

32
# Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 dry skin 32 HP:0000958
3 hypermelanotic macule 32 HP:0001034

Drugs & Therapeutics for Amyloidosis, Primary Localized Cutaneous, 3

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Primary Localized Cutaneous, 3

Genetic Tests for Amyloidosis, Primary Localized Cutaneous, 3

Anatomical Context for Amyloidosis, Primary Localized Cutaneous, 3

MalaCards organs/tissues related to Amyloidosis, Primary Localized Cutaneous, 3:

41
Skin, Neutrophil, Lung, Breast

Publications for Amyloidosis, Primary Localized Cutaneous, 3

Articles related to Amyloidosis, Primary Localized Cutaneous, 3:

(show all 20)
# Title Authors Year
1
Case of amyloidosis cutis dyschromica with dermoscopy. ( 30126033 )
2018
2
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. ( 29336782 )
2018
3
Association of amyloidosis cutis dyschromica and familial Mediterranean fever. ( 29267436 )
2017
4
Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review. ( 28557715 )
2017
5
Amyloidosis cutis dyschromica in two siblings and review of the epidemiology, clinical features and management in 48 cases. ( 25866143 )
2015
6
Amyloidosis Cutis Dyschromica: A Rare Reticulate Pigmentary Dermatosis. ( 26288409 )
2015
7
Familial amyloidosis cutis dyschromica in three siblings: report from indonesia. ( 25386328 )
2014
8
Familial amyloidosis cutis dyschromica: a case report. ( 24659076 )
2014
9
Amyloidosis cutis dyschromica. ( 24350022 )
2013
10
Amyloidosis cutis dyschromica. ( 23234252 )
2012
11
Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female. ( 21645034 )
2011
12
Amyloidosis cutis dyschromica in two female siblings: cases report. ( 21320354 )
2011
13
Amyloidosis cutis dyschromica: a rare pigmentary disorder. ( 21592180 )
2011
14
A rare type of primary cutaneous amyloidosis: amyloidosis cutis dyschromica. ( 21091677 )
2010
15
Amyloidosis cutis dyschromica: four cases from two families. ( 19416385 )
2009
16
Amyloidosis cutis dyschromica: a case treated with acitretin. ( 16043923 )
2005
17
Amyloidosis cutis dyschromica in a patient with generalized morphoea. ( 15030364 )
2004
18
Familial amyloidosis cutis dyschromica: six cases from three families. ( 12184644 )
2002
19
Amyloidosis cutis dyschromica in two siblings. ( 11722454 )
2001
20
Amyloidosis cutis dyschromica. DNA repair reduction in the cellular response to UV light. ( 1626966 )
1992

Variations for Amyloidosis, Primary Localized Cutaneous, 3

ClinVar genetic disease variations for Amyloidosis, Primary Localized Cutaneous, 3:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPNMB NM_002510.2(GPNMB): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs140352180 GRCh37 Chromosome 7, 23299622: 23299622
2 GPNMB NM_002510.2(GPNMB): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs140352180 GRCh38 Chromosome 7, 23260003: 23260003
3 GPNMB NM_002510.2(GPNMB): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs770211260 GRCh37 Chromosome 7, 23299717: 23299717
4 GPNMB NM_002510.2(GPNMB): c.660T> G (p.Tyr220Ter) single nucleotide variant Pathogenic rs770211260 GRCh38 Chromosome 7, 23260098: 23260098
5 GPNMB NM_002510.2(GPNMB): c.1056delT (p.Pro353Leufs) deletion Pathogenic GRCh37 Chromosome 7, 23306173: 23306173
6 GPNMB NM_002510.2(GPNMB): c.1056delT (p.Pro353Leufs) deletion Pathogenic GRCh38 Chromosome 7, 23266554: 23266554
7 GPNMB NM_002510.2(GPNMB): c.296delA (p.Asn99Thrfs) deletion Pathogenic GRCh38 Chromosome 7, 23254241: 23254241
8 GPNMB NM_002510.2(GPNMB): c.296delA (p.Asn99Thrfs) deletion Pathogenic GRCh37 Chromosome 7, 23293860: 23293860
9 GPNMB NM_002510.2(GPNMB): c.719_720delTG (p.Val240Aspfs) deletion Pathogenic GRCh38 Chromosome 7, 23260474: 23260475
10 GPNMB NM_002510.2(GPNMB): c.719_720delTG (p.Val240Aspfs) deletion Pathogenic GRCh37 Chromosome 7, 23300093: 23300094
11 GPNMB NM_002510.2(GPNMB): c.877_880delGTTT (p.Val293Profs) deletion Pathogenic rs773435101 GRCh37 Chromosome 7, 23300251: 23300254
12 GPNMB NM_002510.2(GPNMB): c.877_880delGTTT (p.Val293Profs) deletion Pathogenic rs773435101 GRCh38 Chromosome 7, 23260632: 23260635

Expression for Amyloidosis, Primary Localized Cutaneous, 3

Search GEO for disease gene expression data for Amyloidosis, Primary Localized Cutaneous, 3.

Pathways for Amyloidosis, Primary Localized Cutaneous, 3

GO Terms for Amyloidosis, Primary Localized Cutaneous, 3

Sources for Amyloidosis, Primary Localized Cutaneous, 3

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74 UMLS via Orphanet
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