MCID: PTY003
MIFTS: 46

Pityriasis Rubra Pilaris

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

MalaCards integrated aliases for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 54 12 50 24 56 71 29 13 42 14 69
Familial Pityriasis Rubra Pilaris 50 25 69
Prp 50 24 71
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;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
male-to-female ratio of 3:2 in childhood cases
disease usually progresses in a cephalocaudal direction
nails, palms, and soles are spared in some patients
the familial form of pityriasis rubra pilaris is generally resistant to treatment and persists


HPO:

32
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Pityriasis Rubra Pilaris

OMIM : 54
Pityriasis rubra pilaris is an uncommon skin disorder 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, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012). (173200)

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, ichthyosis and eczema. 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 phenotype is integument.

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 : 71 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 : 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.

Wikipedia : 72 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Related Diseases for Pityriasis Rubra Pilaris

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

(show top 50) (show all 99)
id Related Disease Score Top Affiliating Genes
1 prp systemic amyloidosis 11.8
2 phosphoribosylpyrophosphate synthetase superactivity 11.1
3 scrapie 10.6
4 psoriasis 10.5
5 prion disease 10.4
6 encephalopathy 10.3
7 creutzfeldt-jakob disease 10.3
8 dermatomyositis 10.2
9 ichthyosis 10.2
10 acne 10.2
11 arthritis 10.2
12 thyroiditis 10.2
13 chronic wasting disease 10.1
14 hypothyroidism 10.1
15 lichen planus 10.1
16 ectropion 10.1
17 squamous cell carcinoma 10.1
18 alopecia 10.1
19 ainhum 10.1
20 syringomyelia 10.1
21 cicatricial ectropion 10.1
22 keratitis 10.1
23 hepatitis 10.1
24 herpes simplex 10.1
25 tinea nigra 10.0 CARD14 IL36RN
26 neuronitis 10.0
27 epidermolytic hyperkeratosis 9.9
28 leukemia 9.9
29 lichen nitidus 9.9
30 kawasaki disease 9.9
31 myasthenia gravis 9.9
32 arthropathy 9.9
33 lupus erythematosus 9.9
34 cutaneous lupus erythematosus 9.9
35 merkel cell carcinoma 9.9
36 down syndrome 9.9
37 lymphoma 9.9
38 tuberculosis 9.9
39 myopathy 9.9
40 keratosis 9.9
41 proliferative glomerulonephritis 9.9
42 mesangial proliferative glomerulonephritis 9.9
43 rheumatoid arthritis 9.9
44 tendinitis 9.9
45 pertussis 9.9
46 hepatitis c 9.9
47 diffuse cutaneous systemic sclerosis 9.9
48 hepatocellular carcinoma 9.9
49 hypoparathyroidism 9.9
50 viral hepatitis 9.9

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 via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
palmoplantar keratoderma
papules, keratotic follicular
plaques, erythematous, covered with fine powdery scales
islands of uninvolved skin

Head And Neck- Head:
scaly scalp (in some patients)

Skin Nails & Hair- Skin Histology:
hyperkeratosis, mild to moderate
focal parakeratosis
focal orthokeratosis
focal hypergranulosis
mild acanthosis, with broad and blunted rete ridges
more
Skin Nails & Hair- Nails:
splinter hemorrhages
discoloration, yellow-brown
subungual hyperkeratosis
nail plate thickening
transverse ridging

Head And Neck- Eyes:
ectropion, bilateral (in some patients)


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 palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
3 eczema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000964
4 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
5 lichenification 56 32 occasional (7.5%) Occasional (29-5%) HP:0100725
6 erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001019
7 subungual hyperkeratosis 56 32 frequent (33%) Frequent (79-30%) HP:0008392
8 irregular hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007400
9 neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0002664
10 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
11 pustule 56 32 occasional (7.5%) Occasional (29-5%) HP:0200039
12 abnormality of the oral cavity 56 32 occasional (7.5%) Occasional (29-5%) HP:0000163
13 thickened skin 56 Frequent (79-30%)
14 abnormality of the nail 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ATP2A2 BLMH IL36RN 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 Drugs
1 A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris Terminated NCT00815633 Phase 4 Alefacept

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, Testes, Colon, T Cells

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 404)
id Title Authors Year
1
Follicular Psoriasis: Differentiation from Pityriasis Rubra Pilaris-An Illustrative Case and Review of the Literature. ( 27874201 )
2017
2
Differentiation of pityriasis rubra pilaris from plaque psoriasis by dermoscopy. ( 28280914 )
2017
3
Paraneoplastic pityriasis rubra pilaris: case report and literature review. ( 27896859 )
2017
4
Interleukin 23-Helper T Cell 17 Axis as a Treatment Target for Pityriasis Rubra Pilaris. ( 28122069 )
2017
5
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. ( 27760266 )
2017
6
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. ( 28301045 )
2017
7
High grade follicular lymphoma in a patient receiving adalimumab and methotrexate for pityriasis rubra pilaris. ( 28266882 )
2017
8
Infliximab-induced cutaneous eruption resembling pityriasis rubra pilaris in a patient with Takayasu's arteritis. ( 27862745 )
2016
9
Classic Juvenile Pityriasis Rubra Pilaris Treated with Oral Alitretinoin. ( 27274642 )
2016
10
Successful Treatment of Refractory Pityriasis Rubra Pilaris With Secukinumab. ( 27706476 )
2016
11
Bevacizumab-induced pityriasis rubra pilaris-like eruption. ( 27365893 )
2016
12
Photosensitive pityriasis rubra pilaris. ( 27512362 )
2016
13
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin. ( 27014774 )
2016
14
Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. ( 26963004 )
2016
15
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
16
Pityriasis rubra pilaris and mesangial proliferative glomerulonephritis in a child: Association or coincidence? ( 26937085 )
2016
17
Pityriasis rubra pilaris-like eruption following insulin therapy initiation. ( 27867741 )
2016
18
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. ( 27264697 )
2016
19
Successful treatment of type II pityriasis rubra pilaris with secukinumab. ( 27981219 )
2016
20
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 26728835 )
2016
21
Cyclical Inguinal Keratoderma: A New Clinical Entity or a Variant of Pityriasis Rubra Pilaris? ( 27469485 )
2016
22
Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. ( 27140437 )
2016
23
Pityriasis Rubra Pilaris in a 3-Year-Old Male. ( 26926758 )
2016
24
Circumscribed juvenile pityriasis rubra pilaris responsive to alitretinoin. ( 26556472 )
2015
25
Treatment of Refractory Pityriasis Rubra Pilaris With Novel Phosphodiesterase 4 (PDE4) Inhibitor Apremilast. ( 26536384 )
2015
26
Dermoscopy of circumscribed juvenile pityriasis rubra pilaris. ( 25500045 )
2015
27
The Incidence of Acantholysis in Pityriasis Rubra Pilaris-Histopathological Study Using Multiple-Step Sections and Clinicopathologic Correlations. ( 26381023 )
2015
28
Pityriasis rubra pilaris and transitional meningioma: a fortuitous association? ( 25906197 )
2015
29
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-I_B. ( 25734815 )
2015
30
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 25994892 )
2015
31
Pityriasis rubra pilaris with histologic features of lichen nitidus. ( 26183985 )
2015
32
Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic: Histopathologic Diagnosis and Response to Antiretroviral Therapy. ( 26514629 )
2015
33
Pityriasis rubra pilaris occurring after vaccination with diphtheria-pertussis-tetanus and oral poliovirus vaccines. ( 26515846 )
2015
34
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. ( 25794020 )
2015
35
Ineffectiveness of tumor necrosis factor-I+ blockers and ustekinumab in a case of type IV pityriasis rubra pilaris. ( 26009720 )
2015
36
Sofosbuvir-Induced Erythrodermic Pityriasis Rubra Pilaris-Like Drug Eruption. ( 26461830 )
2015
37
Pityriasis rubra pilaris-like eruption with dermatomyositis and diffuse cutaneous systemic sclerosis overlap. ( 25758527 )
2015
38
Pityriasis rubra pilaris mixed type III/IV successfully treated with narrow band-ultraviolet B. ( 25937140 )
2015
39
Successful response of refractory type I adult-onset pityriasis rubra pilaris with ustekinumab and acitretin combination therapy. ( 25982628 )
2015
40
Ustekinumab as an alternative treatment option for chronic pityriasis rubra pilaris. ( 25969677 )
2015
41
Successful treatment of pityriasis rubra pilaris with oral Vitamin A in oil (Chocola A(Ar) ) for an 18-month-old child. ( 26387659 )
2015
42
CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis. ( 26130407 )
2015
43
Clinical remission of pityriasis rubra pilaris with adalimumab in an adolescent patient. ( 26215208 )
2015
44
Acute cutaneous graft-versus-host disease resembling type II (atypical adult) pityriasis rubra pilaris. ( 25688705 )
2015
45
Consider triggers for pityriasis rubra pilaris. ( 24635086 )
2014
46
Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series. ( 24577624 )
2014
47
Pityriasis rubra pilaris (PRP) with preceding Epstein-Barr virus infection: a new type PRP with non-HIV virus infection? ( 24931263 )
2014
48
Successful treatment of pityriasis rubra pilaris with adalimumab - case report. ( 24746310 )
2014
49
Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris. ( 25015636 )
2014
50
Treatment options for pityriasis rubra pilaris including biologic agents: a retrospective analysis from an academic medical center. ( 23986433 )
2014

Variations for Pityriasis Rubra Pilaris

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

71
id Symbol AA change Variation ID SNP ID
1 CARD14 p.Gly117Ser VAR_068224 rs281875215
2 CARD14 p.Leu156Pro VAR_068820 rs387907240
3 CARD14 p.Cys127Ser VAR_078584
4 CARD14 p.Gln136Leu VAR_078585

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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