PRP
MCID: PTY003
MIFTS: 46

Pityriasis Rubra Pilaris (PRP) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

Aliases & Descriptions for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 54 12 50 24 56 66 29 13 42 14 69
Familial Pityriasis Rubra Pilaris 50 25 69
Prp 50 24 66
Pityriasis Rubra Pilaris--Familial Type 50
Devergie's Disease 12
Familial Prp 25

Characteristics:

Orphanet epidemiological data:

56
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 173200
Disease Ontology 12 DOID:9212
ICD10 33 L44.0
ICD9CM 35 696.4
MeSH 42 D010916
NCIt 47 C85014
SNOMED-CT 64 3755001
Orphanet 56 ORPHA2897
MESH via Orphanet 43 D010916
UMLS via Orphanet 70 C0032027
ICD10 via Orphanet 34 L44.0
MedGen 40 C0032027
UMLS 69 C0032027

Summaries for Pityriasis Rubra Pilaris

OMIM : 54 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 pruritus, ichthyosis and palmoplantar keratoderma. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). The drugs Dermatologic Agents and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and liver, and related phenotypes are growth/size/body region and integument

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 : 50 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 : 66 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

Graphical network of the top 20 diseases related to Pityriasis Rubra Pilaris:



Diseases related to Pityriasis Rubra Pilaris

Symptoms & Phenotypes for Pityriasis Rubra Pilaris

Symptoms by clinical synopsis from OMIM:

173200

Clinical features from OMIM:

173200

Human phenotypes related to Pityriasis Rubra Pilaris:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Frequent (79-30%) HP:0000989
2 ichthyosis 56 32 Occasional (29-5%) HP:0008064
3 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
4 neoplasm 56 32 Occasional (29-5%) HP:0002664
5 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
6 eczema 56 32 Occasional (29-5%) HP:0000964
7 papule 56 32 Very frequent (99-80%) HP:0200034
8 erythroderma 56 32 Very frequent (99-80%) HP:0001019
9 lichenification 56 32 Occasional (29-5%) HP:0100725
10 pustule 56 32 Occasional (29-5%) HP:0200039
11 abnormality of the oral cavity 56 32 Occasional (29-5%) HP:0000163
12 subungual hyperkeratosis 56 32 Frequent (79-30%) HP:0008392
13 abnormality of the nail 56 Frequent (79-30%)
14 thickened skin 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.35 SLURP1 TNFRSF1B ATP2A2 BLMH IL36RN
2 integument MP:0010771 9.02 ATP2A2 BLMH IL36RN SLURP1 TNFRSF1B

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Immunosuppressive Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris Terminated NCT00815633 Phase 4

Search NIH Clinical Center for Pityriasis Rubra Pilaris

Cochrane evidence based reviews: pityriasis rubra pilaris

Genetic Tests for Pityriasis Rubra Pilaris

Genetic tests related to Pityriasis Rubra Pilaris:

id Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris 29 24 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

39
Skin, Thyroid, Liver, Lung, T Cells, Testes, Colon

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 404)
id Title Authors Year
1
High grade follicular lymphoma in a patient receiving adalimumab and methotrexate for pityriasis rubra pilaris. ( 28266882 )
2017
2
Paraneoplastic pityriasis rubra pilaris: case report and literature review. ( 27896859 )
2017
3
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. ( 27760266 )
2017
4
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. ( 28301045 )
2017
5
Differentiation of pityriasis rubra pilaris from plaque psoriasis by dermoscopy. ( 28280914 )
2017
6
Follicular Psoriasis: Differentiation from Pityriasis Rubra Pilaris-An Illustrative Case and Review of the Literature. ( 27874201 )
2017
7
Interleukin 23-Helper T Cell 17 Axis as a Treatment Target for Pityriasis Rubra Pilaris. ( 28122069 )
2017
8
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin. ( 27014774 )
2016
9
Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. ( 27140437 )
2016
10
Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. ( 26963004 )
2016
11
Bevacizumab-induced pityriasis rubra pilaris-like eruption. ( 27365893 )
2016
12
Successful Treatment of Refractory Pityriasis Rubra Pilaris With Secukinumab. ( 27706476 )
2016
13
Classic Juvenile Pityriasis Rubra Pilaris Treated with Oral Alitretinoin. ( 27274642 )
2016
14
Successful treatment of type II pityriasis rubra pilaris with secukinumab. ( 27981219 )
2016
15
Photosensitive pityriasis rubra pilaris. ( 27512362 )
2016
16
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
17
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. ( 27264697 )
2016
18
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 26728835 )
2016
19
Infliximab-induced cutaneous eruption resembling pityriasis rubra pilaris in a patient with Takayasu's arteritis. ( 27862745 )
2016
20
Pityriasis Rubra Pilaris in a 3-Year-Old Male. ( 26926758 )
2016
21
Pityriasis rubra pilaris-like eruption following insulin therapy initiation. ( 27867741 )
2016
22
Cyclical Inguinal Keratoderma: A New Clinical Entity or a Variant of Pityriasis Rubra Pilaris? ( 27469485 )
2016
23
Pityriasis rubra pilaris and mesangial proliferative glomerulonephritis in a child: Association or coincidence? ( 26937085 )
2016
24
Clinical remission of pityriasis rubra pilaris with adalimumab in an adolescent patient. ( 26215208 )
2015
25
Sofosbuvir-Induced Erythrodermic Pityriasis Rubra Pilaris-Like Drug Eruption. ( 26461830 )
2015
26
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-I_B. ( 25734815 )
2015
27
Successful treatment of pityriasis rubra pilaris with oral Vitamin A in oil (Chocola A(Ar) ) for an 18-month-old child. ( 26387659 )
2015
28
Pityriasis rubra pilaris mixed type III/IV successfully treated with narrow band-ultraviolet B. ( 25937140 )
2015
29
Dermoscopy of circumscribed juvenile pityriasis rubra pilaris. ( 25500045 )
2015
30
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 25994892 )
2015
31
Successful response of refractory type I adult-onset pityriasis rubra pilaris with ustekinumab and acitretin combination therapy. ( 25982628 )
2015
32
Pityriasis rubra pilaris and transitional meningioma: a fortuitous association? ( 25906197 )
2015
33
Ineffectiveness of tumor necrosis factor-I+ blockers and ustekinumab in a case of type IV pityriasis rubra pilaris. ( 26009720 )
2015
34
Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic: Histopathologic Diagnosis and Response to Antiretroviral Therapy. ( 26514629 )
2015
35
Ustekinumab as an alternative treatment option for chronic pityriasis rubra pilaris. ( 25969677 )
2015
36
Pityriasis rubra pilaris-like eruption with dermatomyositis and diffuse cutaneous systemic sclerosis overlap. ( 25758527 )
2015
37
Circumscribed juvenile pityriasis rubra pilaris responsive to alitretinoin. ( 26556472 )
2015
38
Treatment of Refractory Pityriasis Rubra Pilaris With Novel Phosphodiesterase 4 (PDE4) Inhibitor Apremilast. ( 26536384 )
2015
39
Acute cutaneous graft-versus-host disease resembling type II (atypical adult) pityriasis rubra pilaris. ( 25688705 )
2015
40
Pityriasis rubra pilaris with histologic features of lichen nitidus. ( 26183985 )
2015
41
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. ( 26130407 )
2015
42
The Incidence of Acantholysis in Pityriasis Rubra Pilaris-Histopathological Study Using Multiple-Step Sections and Clinicopathologic Correlations. ( 26381023 )
2015
43
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. ( 25794020 )
2015
44
Pityriasis rubra pilaris occurring after vaccination with diphtheria-pertussis-tetanus and oral poliovirus vaccines. ( 26515846 )
2015
45
Paraneoplastic pityriasis rubra pilaris as the presenting manifestation of metastatic squamous cell carcinoma. ( 24809888 )
2014
46
Pityriasis rubra pilaris triggered by photodynamic therapy with response to tumor necrosis factor I+-blocking agents and acitretin. ( 24738108 )
2014
47
Pityriasis rubra pilaris (PRP) with preceding Epstein-Barr virus infection: a new type PRP with non-HIV virus infection? ( 24931263 )
2014
48
Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. ( 24641799 )
2014
49
Treatment options for pityriasis rubra pilaris including biologic agents: a retrospective analysis from an academic medical center. ( 23986433 )
2014
50
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. ( 24577624 )
2014

Variations for Pityriasis Rubra Pilaris

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

66
id Symbol AA change Variation ID SNP ID
1 CARD14 p.Leu156Pro VAR_068820 rs387907240

ClinVar genetic disease variations for Pityriasis Rubra Pilaris:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CARD14 NM_024110.4(CARD14): c.467T> C (p.Leu156Pro) single nucleotide variant Pathogenic rs387907240 GRCh37 Chromosome 17, 78157829: 78157829
2 CARD14 CARD14, 3-BP DEL, 412GAG deletion Pathogenic
3 CARD14 CARD14, IVS3DS, G-A, +1 single nucleotide variant Pathogenic

Expression for Pityriasis Rubra Pilaris

Search GEO for disease gene expression data for Pityriasis Rubra Pilaris.

Pathways for Pityriasis Rubra Pilaris

GO Terms for Pityriasis Rubra Pilaris

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

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 CARD14 TNFRSF1B

Sources for Pityriasis Rubra Pilaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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