PRP
MCID: PTY003
MIFTS: 46

Pityriasis Rubra Pilaris (PRP) malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Pityriasis Rubra Pilaris

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.

MalaCards: Pityriasis Rubra Pilaris, also known as familial pityriasis rubra pilaris, is related to psoriasis and scrapie, and has symptoms including lichen, pustula/pustulosis and dysplastic/thick/grooved fingernails. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (caspase recruitment domain family, member 14). Affiliated tissues include skin, tongue and thyroid.

NIH Rare Diseases:44 Pityriasis rubra pilaris (prp) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. there are several types of prp, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. prp is usually sporadic (occurring randomly) but some forms may be inherited. last updated: 3/10/2014

Wikipedia:66 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Description from OMIM:48 173200

Aliases & Classifications for Pityriasis Rubra Pilaris

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 22Genetics Home Reference, 28ICD9CM, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pityriasis rubra pilaris 9 10 44 21 48 11 50 63
familial pityriasis rubra pilaris 44 22 63
pityriasis rubra pilaris--familial type 44
devergie's disease 9
familial prp 22
prp 44


External Ids:

Disease Ontology9 DOID:9212
ICD9CM28 696.4
OMIM48 173200
MeSH36 D010916
NCIt41 C85014
SNOMED-CT59 3755001
MESH via Orphanet37 D010916
ICD10 via Orphanet27 L44.0
SNOMED-CT via Orphanet60 3755001
UMLS via Orphanet64 C0032027
ICD1026 L44.0

Related Diseases for Pityriasis Rubra Pilaris

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pityriasis Rubra Pilaris:



Diseases related to pityriasis rubra pilaris

Symptoms for Pityriasis Rubra Pilaris

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

173200

Clinical features from OMIM:

173200

Symptoms:

50 (show all 14)
  • lichen
  • pustula/pustulosis
  • dysplastic/thick/grooved fingernails
  • eczema
  • neoplasms/tumors
  • nails anomalies
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching
  • irregular/in bands/reticular skin hyperpigmentation
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of tongue, gingiva and oral mucosa
  • thick skin/pachydermia/orange skin
  • ichthyosis/ichthyosiform dermatitis

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pityriasis Rubra Pilaris

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21GeneTests
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Genetic tests related to Pityriasis Rubra Pilaris:

id Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris21 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

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34MalaCards
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MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

34
Skin, Tongue, Thyroid, Liver, Lung, Testes, Colon

Animal Models for Pityriasis Rubra Pilaris or affiliated genes

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Publications for Pityriasis Rubra Pilaris

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53PubMed
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Articles related to Pityriasis Rubra Pilaris:

(show top 50)    (show all 343)
idTitleAuthorsYear
1
Drug-related pityriasis rubra pilaris with acantholysis. (24266317)
2013
2
A pediatric case of pityriasis rubra pilaris successfully treated with low-dose vitamin a. (22949899)
2012
3
Oral alitretinoin for the treatment of recalcitrant pityriasis rubra pilaris. (21577368)
2011
4
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. (22097993)
2011
5
Treatment of refractory adult-onset pityriasis rubra pilaris with TNF-alpha antagonists: a case series. (20002243)
2010
6
Should ustekinumab really be used as first-line biological therapy in pityriasis rubra pilaris? (20662839)
2010
7
Successful treatment of type 1 pityriasis rubra pilaris with ustekinumab therapy. (20605773)
2010
8
Treatment of juvenile pityriasis rubra pilaris with etanercept. (19119116)
2008
9
Advocacy and hope for the patient with pityriasis rubra pilaris. (19051784)
2008
10
Pityriasis rubra pilaris in a HIV-positive patient (Type 6 PRP). (18174806)
2008
11
Pityriasis rubra pilaris successfully treated with infliximab. (17989902)
2007
12
Dermatomyositis with a pityriasis rubra pilaris-like eruption: an uncommon cutaneous manifestation in dermatomyositis. (17461814)
2007
13
Photosensitive pityriasis rubra pilaris. (16309476)
2006
14
Living with pityriasis rubra pilaris. (16294947)
2005
15
Pityriasis rubra pilaris: a clinical review. (16463927)
2005
16
Paraneoplastic pityriasis rubra pilaris in association with bronchogenic carcinoma. (15068463)
2004
17
A review of pityriasis rubra pilaris and rheumatologic associations. (15154613)
2004
18
Pityriasis rubra pilaris. (14594579)
2003
19
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. (14673347)
2002
20
Pityriasis rubra pilaris in children. (12196748)
2002
21
Acute juvenile pityriasis rubra pilaris: a superantigen mediated disease? (11737687)
2001
22
Pityriasis rubra pilaris (PRP): report of four cases. (10774144)
2000
23
Three cases of pityriasis rubra pilaris successfully treated with cyclosporin A. (10894965)
2000
24
Extracorporeal photochemotherapy for the treatment of erythrodermic pityriasis rubra pilaris. (10206066)
1999
25
Pityriasis rubra pilaris in black South Africans. (10354168)
1999
26
Bath-PUVA as a treatment for Pityriasis rubra pilaris provoked by ultraviolet B. (10233350)
1999
27
Exanthematic pityriasis rubra pilaris. (10583150)
1999
28
Pityriasis rubra pilaris: a retrospective analysis of 43 patients. (10494736)
1999
29
Pityriasis rubra pilaris and a seronegative polyarthritis. (9292098)
1997
30
Topical treatment of pityriasis rubra pilaris with calcipotriol. (7515639)
1994
31
Pityriasis rubra pilaris and cyclosporine. (8215510)
1993
32
Topical treatment with the vitamin D3 analogue MC903 improves pityriasis rubra pilaris: clinical and immunohistochemical observations. (1911337)
1991
33
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2393436)
1990
34
Down's syndrome and pityriasis rubra pilaris. (2531644)
1989
35
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2469343)
1989
36
Pityriasis rubra pilaris in childhood: a long-term study of 29 cases. (3562357)
1986
37
Stanozolol in the treatment of pityriasis rubra pilaris. (3977380)
1985
38
Pityriasis rubra pilaris: a clinico-pathological and therapeutic study with special reference to histochemistry, autoradiography, and electron microscopy. (6660901)
1983
39
Pityriasis rubra pilaris. (7398119)
1980
40
Evaluation of 13-cis retinoic acid in lamellar ichthyosis, pityriasis rubra pilaris and Darier's disease. (6928816)
1980
41
Pityriasis rubra pilaris. (4254887)
1971
42
PITYRIASIS RUBRA PILARIS. (14107615)
1964
43
Pityriasis rubra pilaris: report of four cases. (13757389)
1960
44
Case for diagnosis (pityriasis rubra pilaris?). (14789432)
1950
45
Liver function in Darier's disease and pityriasis rubra pilaris. (18135871)
1949
46
Pityriasis rubra pilaris. (20342290)
1947
47
A case for diagnosis (pityriasis rubra pilaris in one of twin brothers?). (21065255)
1946
48
Case of Pityriasis Rubra Pilaris. (19980925)
1920
49
Pityriasis Rubra Pilaris associated with Pregnancy. (19978626)
1915
50
Pityriasis Rubra Pilaris in a Girl, aged 5. (19975055)
1911

Variations for Pityriasis Rubra Pilaris

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:

65
id Symbol AA change Variation ID SNP ID
1CARD14p.Leu156ProVAR_068820

Clinvar genetic disease variations for Pityriasis Rubra Pilaris:

1
id Gene Name Type Significance SNP ID Assembly Location
1CARD14NM_024110.4(CARD14): c.467T> C (p.Leu156Pro)single nucleotide variantPathogenicrs387907240GRCh37Chr 17, 78157829: 78157829
2CARD14CARD14, 3-BP DEL, 412GAGdeletionPathogenic
3CARD14CARD14, IVS3, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Pityriasis Rubra Pilaris

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pityriasis Rubra Pilaris

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Pathways for genes affiliated with Pityriasis Rubra Pilaris

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Compounds for genes affiliated with Pityriasis Rubra Pilaris

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GO Terms for genes affiliated with Pityriasis Rubra Pilaris

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Products for genes affiliated with Pityriasis Rubra Pilaris

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  • Antibodies
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Sources for Pityriasis Rubra Pilaris

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet