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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 52 11 48 24 54 70 27 12 39 13 68
Familial Pityriasis Rubra Pilaris 48 25 68
Prp 48 24 70
 
Pityriasis Rubra Pilaris--Familial Type 48
Devergie's Disease 11
Familial Prp 25

Characteristics:

Orphanet epidemiological data:

54
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
pityriasis rubra pilaris:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 173200
Disease Ontology11 DOID:9212
ICD1030 L44.0
ICD9CM32 696.4
MeSH39 D010916
NCIt45 C85014
SNOMED-CT62 3755001
Orphanet54 ORPHA2897
MESH via Orphanet40 D010916
UMLS via Orphanet69 C0032027
ICD10 via Orphanet31 L44.0
MedGen37 C0032027

Summaries for Pityriasis Rubra Pilaris

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OMIM:52 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 growth/size/body region and homeostasis/metabolism.

Genetics Home Reference:25 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:48 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:70 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:71 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 & Phenotypes for Pityriasis Rubra Pilaris

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Symptoms by clinical synopsis from OMIM:

173200

Clinical features from OMIM:

173200

Human phenotypes related to Pityriasis Rubra Pilaris:

 64 54 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma64 54 hallmark (90%) Very frequent (99-80%) HP:0000982
2 irregular hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007400
3 pruritus64 54 typical (50%) Frequent (79-30%) HP:0000989
4 abnormality of the fingernails64 typical (50%) HP:0001231
5 abnormality of the oral cavity64 54 occasional (7.5%) Occasional (29-5%) HP:0000163
6 eczema64 54 occasional (7.5%) Occasional (29-5%) HP:0000964
7 neoplasm64 54 occasional (7.5%) Occasional (29-5%) HP:0002664
8 ichthyosis64 54 occasional (7.5%) Occasional (29-5%) HP:0008064
9 lichenification64 54 occasional (7.5%) Occasional (29-5%) HP:0100725
10 pustule64 54 occasional (7.5%) Occasional (29-5%) HP:0200039
11 subungual hyperkeratosis64 54 Frequent (79-30%) HP:0008392
12 erythroderma54 Very frequent (99-80%)
13 thickened skin54 Frequent (79-30%)
14 abnormality of the nail54 Frequent (79-30%)
15 papule54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.3ATP2A2, BLMH, IL36RN, SLURP1, TNFRSF1B
2MP:00053768.3ATP2A2, BLMH, IL36RN, SLURP1, TNFRSF1B
3MP:00107717.5ATP2A2, BLMH, IL36RN, SLURP1, TNFRSF1B

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 412770
2Dermatologic AgentsPhase 45674

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 Pilaris27 24 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

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MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

36
Skin, Thyroid, Liver, Testes, Lung, Colon

Publications for Pityriasis Rubra Pilaris

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Articles related to Pityriasis Rubra Pilaris:

(show top 50)    (show all 400)
idTitleAuthorsYear
1
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. (27760266)
2017
2
Follicular Psoriasis: Differentiation from Pityriasis Rubra Pilaris-An Illustrative Case and Review of the Literature. (27874201)
2017
3
Paraneoplastic pityriasis rubra pilaris: case report and literature review. (27896859)
2017
4
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. (27264697)
2016
5
Pityriasis Rubra Pilaris in a 3-Year-Old Male. (26926758)
2016
6
Efficacy of ustekinumab after failure of infliximab CT-P13 in a HLA-Cw6-positive patient affected by pityriasis rubra pilaris: monitoring with reflectance confocal microscopy (RCM) and optical coherence tomography (OCT). (27739122)
2016
7
Infliximab-induced cutaneous eruption resembling pityriasis rubra pilaris in a patient with Takayasu's arteritis. (27862745)
2016
8
Classic Juvenile Pityriasis Rubra Pilaris Treated with Oral Alitretinoin. (27274642)
2016
9
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin. (27014774)
2016
10
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. (26728835)
2016
11
Pityriasis rubra pilaris-like eruption following insulin therapy initiation. (27867741)
2016
12
Photosensitive pityriasis rubra pilaris. (27512362)
2016
13
Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. (26963004)
2016
14
Bevacizumab-induced pityriasis rubra pilaris-like eruption. (27365893)
2016
15
Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. (27140437)
2016
16
Cyclical Inguinal Keratoderma: A New Clinical Entity or a Variant of Pityriasis Rubra Pilaris? (27469485)
2016
17
Successful Treatment of Refractory Pityriasis Rubra Pilaris With Secukinumab. (27706476)
2016
18
Pityriasis rubra pilaris and mesangial proliferative glomerulonephritis in a child: Association or coincidence? (26937085)
2016
19
Successful treatment of type II pityriasis rubra pilaris with secukinumab. (27981219)
2016
20
Sofosbuvir-Induced Erythrodermic Pityriasis Rubra Pilaris-Like Drug Eruption. (26461830)
2015
21
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. (25994892)
2015
22
Successful treatment of pityriasis rubra pilaris with oral Vitamin A in oil (Chocola A(Ar) ) for an 18-month-old child. (26387659)
2015
23
Dermoscopy of circumscribed juvenile pityriasis rubra pilaris. (25500045)
2015
24
Circumscribed juvenile pityriasis rubra pilaris responsive to alitretinoin. (26556472)
2015
25
Pityriasis rubra pilaris mixed type III/IV successfully treated with narrow band-ultraviolet B. (25937140)
2015
26
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. (25794020)
2015
27
Treatment of Refractory Pityriasis Rubra Pilaris With Novel Phosphodiesterase 4 (PDE4) Inhibitor Apremilast. (26536384)
2015
28
Ustekinumab as an alternative treatment option for chronic pityriasis rubra pilaris. (25969677)
2015
29
The Incidence of Acantholysis in Pityriasis Rubra Pilaris-Histopathological Study Using Multiple-Step Sections and Clinicopathologic Correlations. (26381023)
2015
30
Successful response of refractory type I adult-onset pityriasis rubra pilaris with ustekinumab and acitretin combination therapy. (25982628)
2015
31
Pityriasis rubra pilaris with histologic features of lichen nitidus. (26183985)
2015
32
Pityriasis rubra pilaris-like eruption with dermatomyositis and diffuse cutaneous systemic sclerosis overlap. (25758527)
2015
33
Clinical remission of pityriasis rubra pilaris with adalimumab in an adolescent patient. (26215208)
2015
34
Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic: Histopathologic Diagnosis and Response to Antiretroviral Therapy. (26514629)
2015
35
Pityriasis rubra pilaris occurring after vaccination with diphtheria-pertussis-tetanus and oral poliovirus vaccines. (26515846)
2015
36
Ineffectiveness of tumor necrosis factor-I+ blockers and ustekinumab in a case of type IV pityriasis rubra pilaris. (26009720)
2015
37
Acute cutaneous graft-versus-host disease resembling type II (atypical adult) pityriasis rubra pilaris. (25688705)
2015
38
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. (26130407)
2015
39
Pityriasis rubra pilaris and transitional meningioma: a fortuitous association? (25906197)
2015
40
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-I_B. (25734815)
2015
41
Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris. (25015636)
2014
42
Alitretinoin (9-cis retinoic acid) is Effective Against Pityriasis Rubra Pilaris: A Retrospective Clinical Study. (24995552)
2014
43
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. (24641799)
2014
44
Paraneoplastic pityriasis rubra pilaris as the presenting manifestation of metastatic squamous cell carcinoma. (24809888)
2014
45
An unusual cluster of circumscribed juvenile pityriasis rubra pilaris cases. (24456130)
2014
46
Successful treatment of pityriasis rubra pilaris with adalimumab - case report. (24746310)
2014
47
Pityriasis rubra pilaris (PRP) with preceding Epstein-Barr virus infection: a new type PRP with non-HIV virus infection? (24931263)
2014
48
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. (24359224)
2014
49
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. (24577624)
2014
50
Pityriasis rubra pilaris triggered by photodynamic therapy with response to tumor necrosis factor I+-blocking agents and acitretin. (24738108)
2014

Variations for Pityriasis Rubra Pilaris

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

70
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)SNVPathogenicrs387907240GRCh37Chr 17, 78157829: 78157829
2CARD14CARD14, 3-BP DEL, 412GAGdeletionPathogenicChr na, -1: -1
3CARD14CARD14, IVS3, G-A, +1SNVPathogenicChr na, -1: -1

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
1tumor necrosis factor-mediated signaling pathwayGO:00332099.5CARD14, TNFRSF1B

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.4IL36RN, SLURP1

Sources for Pityriasis Rubra Pilaris

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet