MCID: PTY003
MIFTS: 41

Pityriasis Rubra Pilaris malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Pityriasis Rubra Pilaris

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OMIM:45 Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules,... (173200) more...

MalaCards based summary: Pityriasis Rubra Pilaris, also known as familial pityriasis rubra pilaris, is related to psoriasis and scrapie, and has symptoms including palmoplantar keratoderma, irregular hyperpigmentation and pruritus. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (caspase recruitment domain family, member 14). Affiliated tissues include skin, tongue and thyroid.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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:63 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Aliases & Classifications for Pityriasis Rubra Pilaris

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 60UMLS, 21Genetics Home Reference, 38NCIt, 55SNOMED-CT, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Pityriasis Rubra Pilaris, Aliases & Descriptions:

Name: Pityriasis Rubra Pilaris 45 9 10 41 20 11 47 60
Familial Pityriasis Rubra Pilaris 41 21 60
Pityriasis Rubra Pilaris--Familial Type 41
 
Devergie's Disease 9
Familial Prp 21
Prp 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 173200
Disease Ontology9 DOID:9212
NCIt38 C85014
ICD9CM27 696.4
MeSH33 D010916
SNOMED-CT55 3755001
Orphanet47 2897
MESH via Orphanet34 D010916
ICD10 via Orphanet26 L44.0
UMLS via Orphanet61 C0032027
ICD1025 L44.0

Related Diseases for Pityriasis Rubra Pilaris

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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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Symptoms by clinical synopsis from OMIM:

173200

Clinical features from OMIM:

173200

Symptoms:

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

HPO human phenotypes related to Pityriasis Rubra Pilaris:

(show all 13)
id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 irregular hyperpigmentation hallmark (90%) HP:0007400
3 pruritus typical (50%) HP:0000989
4 abnormality of the fingernails typical (50%) HP:0001231
5 abnormality of the oral cavity occasional (7.5%) HP:0000163
6 eczema occasional (7.5%) HP:0000964
7 neoplasm occasional (7.5%) HP:0002664
8 ichthyosis occasional (7.5%) HP:0008064
9 lichenification occasional (7.5%) HP:0100725
10 pustule occasional (7.5%) HP:0200039
11 autosomal dominant inheritance HP:0000006
12 palmoplantar keratoderma HP:0000982
13 subungual hyperkeratosis HP:0008392

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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Drug clinical trials:

Search ClinicalTrials for Pityriasis Rubra Pilaris

Search NIH Clinical Center for Pityriasis Rubra Pilaris

Genetic Tests for Pityriasis Rubra Pilaris

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Genetic tests related to Pityriasis Rubra Pilaris:

id Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris20 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

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MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

31
Skin, Tongue, Thyroid, Liver, Colon, Lung, Testes

Animal Models for Pityriasis Rubra Pilaris or affiliated genes

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Publications for Pityriasis Rubra Pilaris

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Articles related to Pityriasis Rubra Pilaris:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. (25794020)
2015
2
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. (24359224)
2014
3
Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris. (25015636)
2014
4
Drug-related pityriasis rubra pilaris with acantholysis. (24266317)
2013
5
A pediatric case of pityriasis rubra pilaris successfully treated with low-dose vitamin a. (22949899)
2012
6
Oral alitretinoin for the treatment of recalcitrant pityriasis rubra pilaris. (21577368)
2011
7
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. (22097993)
2011
8
Treatment of refractory adult-onset pityriasis rubra pilaris with TNF-alpha antagonists: a case series. (20002243)
2010
9
Should ustekinumab really be used as first-line biological therapy in pityriasis rubra pilaris? (20662839)
2010
10
Successful treatment of type 1 pityriasis rubra pilaris with ustekinumab therapy. (20605773)
2010
11
Treatment of juvenile pityriasis rubra pilaris with etanercept. (19119116)
2008
12
Advocacy and hope for the patient with pityriasis rubra pilaris. (19051784)
2008
13
Pityriasis rubra pilaris in a HIV-positive patient (Type 6 PRP). (18174806)
2008
14
Pityriasis rubra pilaris successfully treated with infliximab. (17989902)
2007
15
Exacerbation of pityriasis rubra pilaris under efalizumab therapy. (17587845)
2007
16
Photosensitive pityriasis rubra pilaris. (16309476)
2006
17
Living with pityriasis rubra pilaris. (16294947)
2005
18
Pityriasis rubra pilaris: a clinical review. (16463927)
2005
19
Paraneoplastic pityriasis rubra pilaris in association with bronchogenic carcinoma. (15068463)
2004
20
A review of pityriasis rubra pilaris and rheumatologic associations. (15154613)
2004
21
Pityriasis rubra pilaris. (14594579)
2003
22
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. (14673347)
2002
23
Pityriasis rubra pilaris in children. (12196748)
2002
24
Acute juvenile pityriasis rubra pilaris: a superantigen mediated disease? (11737687)
2001
25
Pityriasis rubra pilaris (PRP): report of four cases. (10774144)
2000
26
Three cases of pityriasis rubra pilaris successfully treated with cyclosporin A. (10894965)
2000
27
Extracorporeal photochemotherapy for the treatment of erythrodermic pityriasis rubra pilaris. (10206066)
1999
28
Pityriasis rubra pilaris in black South Africans. (10354168)
1999
29
Bath-PUVA as a treatment for Pityriasis rubra pilaris provoked by ultraviolet B. (10233350)
1999
30
Exanthematic pityriasis rubra pilaris. (10583150)
1999
31
Pityriasis rubra pilaris: a retrospective analysis of 43 patients. (10494736)
1999
32
Pityriasis rubra pilaris and a seronegative polyarthritis. (9292098)
1997
33
Topical treatment of pityriasis rubra pilaris with calcipotriol. (7515639)
1994
34
Pityriasis rubra pilaris and cyclosporine. (8215510)
1993
35
Topical treatment with the vitamin D3 analogue MC903 improves pityriasis rubra pilaris: clinical and immunohistochemical observations. (1911337)
1991
36
Down's syndrome and pityriasis rubra pilaris. (2531644)
1989
37
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2469343)
1989
38
Pityriasis rubra pilaris in childhood: a long-term study of 29 cases. (3562357)
1986
39
Stanozolol in the treatment of pityriasis rubra pilaris. (3977380)
1985
40
Pityriasis rubra pilaris: a clinico-pathological and therapeutic study with special reference to histochemistry, autoradiography, and electron microscopy. (6660901)
1983
41
Pityriasis rubra pilaris. (7398119)
1980
42
Pityriasis rubra pilaris. (4254887)
1971
43
PITYRIASIS RUBRA PILARIS. (14107615)
1964
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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UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:

62
id Symbol AA change Variation ID SNP ID
1CARD14p.Leu156ProVAR_068820

Clinvar genetic disease variations for Pityriasis Rubra Pilaris:

6
id Gene Variation 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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Search GEO for disease gene expression data for Pityriasis Rubra Pilaris.

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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Sources for Pityriasis Rubra Pilaris

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet