MCID: PTY003
MIFTS: 46

Pityriasis Rubra Pilaris malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 50 11 46 23 13 52 68 25 12 37 66
Familial Pityriasis Rubra Pilaris 46 24 66
Prp 46 23 68
 
Pityriasis Rubra Pilaris--Familial Type 46
Devergie's Disease 11
Familial Prp 24

Characteristics:

Orphanet epidemiological data:

52
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
pityriasis rubra pilaris:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 173200
Disease Ontology11 DOID:9212
ICD1028 L44.0
ICD9CM30 696.4
MeSH37 D010916
NCIt43 C85014
SNOMED-CT60 3755001
Orphanet52 ORPHA2897
ICD10 via Orphanet29 L44.0
MESH via Orphanet38 D010916
UMLS via Orphanet67 C0032027
MedGen35 C0032027

Summaries for Pityriasis Rubra Pilaris

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OMIM:50 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 prp systemic amyloidosis and phosphoribosylpyrophosphate synthetase superactivity, 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, thyroid and liver, and related mouse phenotypes are integument and homeostasis/metabolism.

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 Pityriasis rubra pilaris: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.

Wikipedia:69 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

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:

 52 (show all 14)
  • abnormality of the oral cavity
  • eczema
  • palmoplantar keratoderma
  • pruritus
  • erythroderma
  • thickened skin
  • abnormality of the nail
  • neoplasm
  • irregular hyperpigmentation
  • ichthyosis
  • subungual hyperkeratosis
  • lichenification
  • papule
  • pustule

HPO human phenotypes related to Pityriasis Rubra Pilaris:

(show all 12)
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 palmoplantar keratoderma HP:0000982
12 subungual hyperkeratosis HP:0008392

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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Drugs for Pityriasis Rubra Pilaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AlefaceptPhase 440222535-22-0
Synonyms:
 
ASP0485

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra PilarisTerminatedNCT00815633Phase 4

Search NIH Clinical Center for Pityriasis Rubra Pilaris


Cochrane evidence based reviews: 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 Pilaris25 23 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

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MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

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

Animal Models for Pityriasis Rubra Pilaris or affiliated genes

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MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1ATP2A2, BLMH, CARD11, IL36RN, SLURP1, TNFRSF1B
2MP:00053767.2ABCB6, ATP2A2, BLMH, CARD11, IL36RN, PTDSS1

Publications for Pityriasis Rubra Pilaris

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Articles related to Pityriasis Rubra Pilaris:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. (27264697)
2016
2
Pityriasis Rubra Pilaris in a 3-Year-Old Male. (26926758)
2016
3
Sofosbuvir-Induced Erythrodermic Pityriasis Rubra Pilaris-Like Drug Eruption. (26461830)
2015
4
Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris. (25015636)
2014
5
Drug-related pityriasis rubra pilaris with acantholysis. (24266317)
2013
6
A pediatric case of pityriasis rubra pilaris successfully treated with low-dose vitamin a. (22949899)
2012
7
Treatment of refractory adult-onset pityriasis rubra pilaris with TNF-alpha antagonists: a case series. (20002243)
2010
8
Successful treatment of type 1 pityriasis rubra pilaris with ustekinumab therapy. (20605773)
2010
9
Treatment of pityriasis rubra pilaris with ustekinumab. (20491761)
2010
10
Pityriasis rubra pilaris in association with laryngeal carcinoma. (20055867)
2009
11
Advocacy and hope for the patient with pityriasis rubra pilaris. (19051784)
2008
12
A case of pityriasis rubra pilaris associated with sacroileitis and autoimmune thyroiditis. (18031492)
2008
13
Response of juvenile circumscribed pityriasis rubra pilaris to topical tazarotene treatment. (18304175)
2008
14
Exacerbation of pityriasis rubra pilaris under efalizumab therapy. (17587845)
2007
15
Dermatomyositis with a pityriasis rubra pilaris-like eruption: an uncommon cutaneous manifestation in dermatomyositis. (17461814)
2007
16
Clinical improvement of pityriasis rubra pilaris with combination etanercept and acitretin therapy. (18087024)
2007
17
Resolution of pityriasis rubra pilaris-induced cicatricial ectropion with systemic low-dose methotrexate. (17386290)
2007
18
Type II adult-onset pityriasis rubra pilaris successfully treated with intravenous immunoglobulin. (17313492)
2007
19
Successful treatment of type I adult-onset pityriasis rubra pilaris with infliximab. (16637810)
2006
20
Pityriasis rubra pilaris: a clinical review. (16463927)
2005
21
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. (14673347)
2002
22
Acute juvenile pityriasis rubra pilaris: a superantigen mediated disease? (11737687)
2001
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
Pityriasis rubra pilaris: a retrospective analysis of 43 patients. (10494736)
1999
28
Pityriasis rubra pilaris. (10065602)
1999
29
Pityriasis rubra pilaris and a seronegative polyarthritis. (9292098)
1997
30
Pityriasis rubra pilaris and focal acantholytic dyskeratosis. (9046654)
1997
31
Pityriasis rubra pilaris: an unusual cutaneous complication of AIDS. (9258214)
1997
32
Pityriasis rubra pilaris presenting as subacute cutaneous lupus erythematosus. (8243104)
1993
33
Pityriasis rubra pilaris in a patient with human immunodeficiency virus infection. (1430367)
1992
34
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2393436)
1990
35
Down's syndrome and pityriasis rubra pilaris. (2531644)
1989
36
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2469343)
1989
37
Pityriasis rubra pilaris in childhood: a long-term study of 29 cases. (3562357)
1986
38
Stanozolol in the treatment of pityriasis rubra pilaris. (3977380)
1985
39
Pityriasis rubra pilaris. (6465925)
1984
40
Pityriasis rubra pilaris and and retinol-binding protein. (7194102)
1981
41
Pityriasis rubra pilaris. (7398119)
1980
42
Pityriasis rubra pilaris and celiac sprue with malabsorption. (7379593)
1980
43
Pityriasis rubra pilaris. (5580313)
1971
44
Pityriasis rubra pilaris. Prolonged treatment with methotrexate. (5501901)
1970
45
PITYRIASIS RUBRA PILARIS. (14107615)
1964
46
The treatment of pityriasis rubra pilaris with dipasic. (13965204)
1962
47
Pityriasis rubra pilaris. (20342290)
1947
48
A case for diagnosis (pityriasis rubra pilaris in one of twin brothers?). (21065255)
1946
49
Pityriasis Rubra Pilaris. (19986327)
1928
50
Pityriasis Rubra Pilaris associated with Pregnancy. (19978626)
1915

Variations for Pityriasis Rubra Pilaris

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UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:

68
id Symbol AA change Variation ID SNP ID
1CARD14p.Leu156ProVAR_068820rs387907240

Clinvar genetic disease variations for Pityriasis Rubra Pilaris:

5
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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GO Terms for genes affiliated with Pityriasis Rubra Pilaris

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Molecular functions related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.7CARD11, CARD14

Sources for Pityriasis Rubra Pilaris

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet