MCID: PTY003
MIFTS: 55

Pityriasis Rubra Pilaris malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 23Genetics Home Reference, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 49 10 11 45 22 12 51 67 36 24 65
Familial Pityriasis Rubra Pilaris 45 23 65
Prp 45 22 67
 
Pityriasis Rubra Pilaris--Familial Type 45
Devergie's Disease 10
Familial Prp 23

Characteristics:

Orphanet epidemiological data:

51
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
pityriasis rubra pilaris:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 173200
Disease Ontology10 DOID:9212
ICD1027 L44.0
ICD9CM29 696.4
MeSH36 D010916
NCIt42 C85014
SNOMED-CT59 3755001
Orphanet51 2897
ICD10 via Orphanet28 L44.0
MESH via Orphanet37 D010916
UMLS via Orphanet66 C0032027
MedGen34 C0032027
UMLS65 C0032027, C2930842

Summaries for Pityriasis Rubra Pilaris

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OMIM:49 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 irregular hyperpigmentation, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways are Transcription_NF-kB signaling pathway and Cellular Transformation by HTLV1. Affiliated tissues include skin, thyroid and brain, and related mouse phenotypes are respiratory system and integument.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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.

Wikipedia:68 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Related Diseases for Pityriasis Rubra Pilaris

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Diseases related to Pityriasis Rubra Pilaris via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1prp systemic amyloidosis11.9
2phosphoribosylpyrophosphate synthetase superactivity11.2
3scrapie10.7
4psoriasis10.6
5prion disease10.5
6encephalopathy10.4
7creutzfeldt-jakob disease10.4
8dermatomyositis10.4
9bartholin's duct cyst10.3IL36RN, TNFRSF1B
10pityriasis rubra pilaris10.3ABCB6, CARD14, PTDSS1
11acne10.3
12arthritis10.3
13thyroiditis10.3
14pustulosis of palm and sole10.3TNF, TNFRSF1B
15cerebral sarcoidosis10.3TNF, TNFRSF1B
16brain stem glioma10.3TNF, TNFRSF1B
17telangiectasis10.3TNF, TNFRSF1B
18gonococcal bursitis10.3TNF, TNFRSF1B
19chronic wasting disease10.3
20precursor b lymphoblastic lymphoma/leukemia10.3TNF, TNFRSF1B
21membranous glomerulonephritis10.2TNF, TNFRSF1B
22cogan-reese syndrome10.2TNF, TNFRSF1B
23keratitis10.2
24alopecia10.2
25hepatitis10.2
26ainhum10.2
27cicatricial ectropion10.2
28hypothyroidism10.2
29ectropion10.2
30syringomyelia10.2
31herpes simplex10.2
32lichen planus10.2
33chromosome 9p deletion syndrome10.2TNF, TNFRSF1B
34pyosalpinx10.2TNF, TNFRSF1B
35kernicterus due to isoimmunization10.2TNF, TNFRSF1B
36cryoglobulinemia10.1TNF, TNFRSF1B
37blue color blindness10.1TNF, TNFRSF1B
38neuronitis10.1
39viral laryngitis10.1TNF, TNFRSF1B
40rheumatoid arthritis10.1
41hepatocellular carcinoma10.1
42renal cell carcinoma10.1
43osteoporosis10.1
44membranous nephropathy10.1
45alopecia universalis10.1
46epidermolytic hyperkeratosis10.1
47kawasaki disease10.1
48tendinitis10.1
49glomerulonephritis10.1
50leukemia10.1

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:

 51 (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 12)
id Description Frequency HPO Source Accession
1 irregular hyperpigmentation hallmark (90%) HP:0007400
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the fingernails typical (50%) HP:0001231
4 pruritus typical (50%) HP:0000989
5 pustule occasional (7.5%) HP:0200039
6 lichenification occasional (7.5%) HP:0100725
7 ichthyosis occasional (7.5%) HP:0008064
8 neoplasm occasional (7.5%) HP:0002664
9 eczema occasional (7.5%) HP:0000964
10 abnormality of the oral cavity occasional (7.5%) HP:0000163
11 subungual hyperkeratosis HP:0008392
12 palmoplantar keratoderma HP:0000982

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
1Immunosuppressive AgentsPhase 410422
2Dermatologic AgentsPhase 44555

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 Pilaris22 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

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MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

33
Skin, Thyroid, Brain, Breast, Prostate, Colon, Lung

Animal Models for Pityriasis Rubra Pilaris or affiliated genes

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MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.6ATP2A2, CARD11, SLURP1, TNF, TNFRSF1B
2MP:00107717.0ATP2A2, BLMH, CARD11, IL36RN, SLURP1, TNF
3MP:00053766.3ABCB6, 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 388)
idTitleAuthorsYear
1
Pityriasis Rubra Pilaris in a 3-Year-Old Male. (26926758)
2016
2
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. (25794020)
2015
3
Sofosbuvir-Induced Erythrodermic Pityriasis Rubra Pilaris-Like Drug Eruption. (26461830)
2015
4
Treatment of Refractory Pityriasis Rubra Pilaris With Novel Phosphodiesterase 4 (PDE4) Inhibitor Apremilast. (26536384)
2015
5
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. (24359224)
2014
6
Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris. (25015636)
2014
7
Drug-related pityriasis rubra pilaris with acantholysis. (24266317)
2013
8
A pediatric case of pityriasis rubra pilaris successfully treated with low-dose vitamin a. (22949899)
2012
9
Oral alitretinoin for the treatment of recalcitrant pityriasis rubra pilaris. (21577368)
2011
10
Pityriasis rubra pilaris: the clinical context of acantholysis and other histologic features. (22097993)
2011
11
Treatment of refractory adult-onset pityriasis rubra pilaris with TNF-alpha antagonists: a case series. (20002243)
2010
12
Should ustekinumab really be used as first-line biological therapy in pityriasis rubra pilaris? (20662839)
2010
13
Successful treatment of type 1 pityriasis rubra pilaris with ustekinumab therapy. (20605773)
2010
14
Treatment of juvenile pityriasis rubra pilaris with etanercept. (19119116)
2008
15
Advocacy and hope for the patient with pityriasis rubra pilaris. (19051784)
2008
16
Pityriasis rubra pilaris successfully treated with infliximab. (17989902)
2007
17
Exacerbation of pityriasis rubra pilaris under efalizumab therapy. (17587845)
2007
18
Photosensitive pityriasis rubra pilaris. (16309476)
2006
19
Living with pityriasis rubra pilaris. (16294947)
2005
20
Pityriasis rubra pilaris: a clinical review. (16463927)
2005
21
Paraneoplastic pityriasis rubra pilaris in association with bronchogenic carcinoma. (15068463)
2004
22
A review of pityriasis rubra pilaris and rheumatologic associations. (15154613)
2004
23
Pityriasis rubra pilaris. (14594579)
2003
24
Familial pityriasis rubra pilaris (adult classic-I): a report of three cases in a single family. (14673347)
2002
25
Pityriasis rubra pilaris in children. (12196748)
2002
26
Acute juvenile pityriasis rubra pilaris: a superantigen mediated disease? (11737687)
2001
27
Pityriasis rubra pilaris (PRP): report of four cases. (10774144)
2000
28
Three cases of pityriasis rubra pilaris successfully treated with cyclosporin A. (10894965)
2000
29
Extracorporeal photochemotherapy for the treatment of erythrodermic pityriasis rubra pilaris. (10206066)
1999
30
Pityriasis rubra pilaris in black South Africans. (10354168)
1999
31
Bath-PUVA as a treatment for Pityriasis rubra pilaris provoked by ultraviolet B. (10233350)
1999
32
Exanthematic pityriasis rubra pilaris. (10583150)
1999
33
Pityriasis rubra pilaris: a retrospective analysis of 43 patients. (10494736)
1999
34
Pityriasis rubra pilaris and a seronegative polyarthritis. (9292098)
1997
35
Topical treatment of pityriasis rubra pilaris with calcipotriol. (7515639)
1994
36
Pityriasis rubra pilaris and cyclosporine. (8215510)
1993
37
Topical treatment with the vitamin D3 analogue MC903 improves pityriasis rubra pilaris: clinical and immunohistochemical observations. (1911337)
1991
38
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2393436)
1990
39
Down's syndrome and pityriasis rubra pilaris. (2531644)
1989
40
Focal acantholytic dyskeratosis occurring in pityriasis rubra pilaris. (2469343)
1989
41
Stanozolol in the treatment of pityriasis rubra pilaris. (3977380)
1985
42
Pityriasis rubra pilaris: a clinico-pathological and therapeutic study with special reference to histochemistry, autoradiography, and electron microscopy. (6660901)
1983
43
Pityriasis rubra pilaris. (7398119)
1980
44
Pityriasis rubra pilaris. (4254887)
1971
45
Case for diagnosis (pityriasis rubra pilaris?). (14789432)
1950
46
Liver function in Darier's disease and pityriasis rubra pilaris. (18135871)
1949
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 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:

67
id Symbol AA change Variation ID SNP ID
1CARD14p.Leu156ProVAR_068820

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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Biological processes related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of interleukin-6 productionGO:00327159.9IL36RN, TNF
2intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6TNF, TNFRSF1B
3extrinsic apoptotic signaling pathwayGO:00971919.6TNF, TNFRSF1B
4positive regulation of cytokine productionGO:00018199.4CARD11, TNF
5positive regulation of NF-kappaB transcription factor activityGO:00510928.8CARD11, CARD14, TNF

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

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.4CARD11, CARD14

Sources for Pityriasis Rubra Pilaris

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet