MCID: PTY003
MIFTS: 49

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 53 12 72 49 55 71 36 28 13 41 14 69
Prp 53 71
Devergie's Disease 12

Characteristics:

Orphanet epidemiological data:

55
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
pityriasis rubra pilaris:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 173200
Disease Ontology 12 DOID:9212
ICD10 32 L44.0
ICD9CM 34 696.4
MeSH 41 D010916
NCIt 46 C85014
SNOMED-CT 64 3755001
Orphanet 55 ORPHA2897
MESH via Orphanet 42 D010916
UMLS via Orphanet 70 C0032027
ICD10 via Orphanet 33 L44.0
MedGen 39 C0032027
KEGG 36 H01659
UMLS 69 C0032027

Summaries for Pityriasis Rubra Pilaris

NIH Rare Diseases : 49 Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). In most cases, PRP is not inherited and the cause is not known. In some people, particularly some with type V (the “atypical juvenile type”), PRP has autosomal dominant inheritance and may be caused by mutations in the CARD14 gene. Treatment options vary based on symptoms and severity. No one treatment works for all people with PRP. Examples of treatment options include topical emollients or medications, oral retinoids, and/or immunosuppressants. Last updated: 10/30/2017

MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to pustulosis of palm and sole and psoriasis, 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 immune system and integument

OMIM : 53 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)

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.

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

Related Diseases for Pityriasis Rubra Pilaris

Diseases in the Pityriasis Rubra Pilaris family:

Familial Pityriasis Rubra Pilaris

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 pustulosis of palm and sole 30.0 IL1RL2 IL36RN TNFRSF1B
2 psoriasis 30.0 CARD14 IL36RN TNFRSF1B
3 familial pityriasis rubra pilaris 12.7
4 prp systemic amyloidosis 11.9
5 phosphoribosylpyrophosphate synthetase superactivity 11.2
6 dermatomyositis 10.3
7 blood group, i system 10.3
8 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
9 arthritis 10.3
10 ichthyosis 10.3
11 thyroiditis 10.3
12 ainhum 10.2
13 keratitis, hereditary 10.2
14 scleroderma, familial progressive 10.2
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
16 alopecia 10.2
17 hepatitis 10.2
18 cicatricial ectropion 10.2
19 hypothyroidism 10.2
20 ectropion 10.2
21 squamous cell carcinoma 10.2
22 syringomyelia 10.2
23 herpes simplex 10.2
24 lichen planus 10.2
25 epidermolytic hyperkeratosis 10.0
26 hepatocellular carcinoma 10.0
27 darier-white disease 10.0
28 hashimoto thyroiditis 10.0
29 renal cell carcinoma, nonpapillary 10.0
30 osteoporosis 10.0
31 rheumatoid arthritis 10.0
32 down syndrome 10.0
33 alopecia universalis congenita 10.0
34 myasthenia gravis 10.0
35 aging 10.0
36 hypercholesterolemia, autosomal dominant, 3 10.0
37 basal cell carcinoma 1 10.0
38 meningioma, familial 10.0
39 mycobacterium tuberculosis 1 10.0
40 bone mineral density quantitative trait locus 8 10.0
41 kawasaki disease 10.0
42 bone mineral density quantitative trait locus 15 10.0
43 graft-versus-host disease 10.0
44 membranous nephropathy 10.0
45 tendinitis 10.0
46 follicular lymphoma 10.0
47 glomerulonephritis 10.0
48 leukemia 10.0
49 cutaneous lupus erythematosus 10.0
50 immunoglobulin alpha deficiency 10.0

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:

53
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:
subungual hyperkeratosis
discoloration, yellow-brown
nail plate thickening
splinter hemorrhages
transverse ridging

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


Clinical features from OMIM:

173200

Human phenotypes related to Pityriasis Rubra Pilaris:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
2 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
3 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
4 neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0002664
5 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
6 eczema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000964
7 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
8 erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001019
9 lichenification 55 31 occasional (7.5%) Occasional (29-5%) HP:0100725
10 pustule 55 31 occasional (7.5%) Occasional (29-5%) HP:0200039
11 abnormality of the oral cavity 55 31 occasional (7.5%) Occasional (29-5%) HP:0000163
12 subungual hyperkeratosis 55 31 frequent (33%) Frequent (79-30%) HP:0008392
13 abnormality of the nail 55 Frequent (79-30%)
14 thickened skin 55 Frequent (79-30%)
15 ectropion 31 occasional (7.5%) HP:0000656

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.35 ATP2A2 BLMH IL1RL2 IL36RN TNFRSF1B
2 integument MP:0010771 9.02 ATP2A2 BLMH IL1RL2 IL36RN TNFRSF1B

Drugs & Therapeutics for Pityriasis Rubra Pilaris

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2 Immunosuppressive Agents Phase 4
3 Antibodies Phase 1
4 Antibodies, Monoclonal Phase 1
5 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra Pilaris Terminated NCT00815633 Phase 4 Alefacept
2 Cosentyx (Secukinumab) for the Treatment of Adult Onset Pityriasis Rubra Pilaris Not yet recruiting NCT03342573 Phase 1 Cosentyx

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:

# Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris 28 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

38
Skin, Thyroid, Liver, Lung, Colon, Testes, T Cells

Publications for Pityriasis Rubra Pilaris

Articles related to Pityriasis Rubra Pilaris:

(show top 50) (show all 420)
# Title Authors Year
1
Rapid response to cyclosporine in a rare case of pityriasis rubra pilaris with autoantibodies and systemic symptoms. ( 29417801 )
2018
2
Ustekinumab treatment of pityriasis rubra pilaris: A report of five cases. ( 29080273 )
2018
3
A case of juvenile pityriasis rubra pilaris type III successfully treated with etanercept. ( 29193567 )
2018
4
Pityriasis rubra pilaris: a rare inflammatory dermatosis. ( 29440245 )
2018
5
A case of severe pityriasis rubra pilaris with a dramatic response to apremilast. ( 29400288 )
2018
6
Successful Treatment of Refractory Type 1 Pityriasis Rubra Pilaris With Apremilast. ( 29309244 )
2018
7
Methotrexate Treatment for Pityriasis Rubra Pilaris: A Case Series and Literature Review. ( 29335741 )
2018
8
A Review on Pityriasis Rubra Pilaris. ( 29302927 )
2018
9
Methotrexate treatment in a case of juvenile pityriasis rubra pilaris. ( 29044698 )
2018
10
Juvenile pityriasis rubra pilaris: successful treatment with methotrexate. ( 29072324 )
2018
11
Ichthyosiform Pityriasis Rubra Pilaris-Like Eruption Secondary to Ponatinib Therapy: Case Report and Literature Review. ( 29138996 )
2017
12
High grade follicular lymphoma in a patient receiving adalimumab and methotrexate for pityriasis rubra pilaris. ( 28266882 )
2017
13
Management of refractory pityriasis rubra pilaris: challenges and solutions. ( 29184428 )
2017
14
Resolving classic pityriasis rubra pilaris, mimicker of erythema gyratum repens. ( 29192964 )
2017
15
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. ( 27760266 )
2017
16
Follicular Psoriasis: Differentiation from Pityriasis Rubra Pilaris-An Illustrative Case and Review of the Literature. ( 27874201 )
2017
17
Paraneoplastic pityriasis rubra pilaris: case report and literature review. ( 27896859 )
2017
18
Interleukin 23-Helper T Cell 17 Axis as a Treatment Target for Pityriasis Rubra Pilaris. ( 28122069 )
2017
19
Differentiation of pityriasis rubra pilaris from plaque psoriasis by dermoscopy. ( 28280914 )
2017
20
Refractory pityriasis rubra pilaris treated with etanercept, adalimumab, or ustekinumab: A retrospective investigation. ( 29034547 )
2017
21
Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. ( 28301045 )
2017
22
Pityriasis rubra pilaris: algorithms for diagnosis and treatment. ( 29247481 )
2017
23
Pityriasis rubra pilaris and severe hypereosinophilia. ( 29121136 )
2017
24
Erythrodermic pityriasis rubra pilaris: Dramatic response to infliximab therapy. ( 26728835 )
2016
25
Classic Juvenile Pityriasis Rubra Pilaris Treated with Oral Alitretinoin. ( 27274642 )
2016
26
Cyclical Inguinal Keratoderma: A New Clinical Entity or a Variant of Pityriasis Rubra Pilaris? ( 27469485 )
2016
27
Successful treatment of type II pityriasis rubra pilaris with secukinumab. ( 27981219 )
2016
28
Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. ( 27140437 )
2016
29
Late onset pityriasis rubra pilaris type IV treated with low-dose acitretin. ( 27014774 )
2016
30
Pityriasis Rubra Pilaris in a 3-Year-Old Male. ( 26926758 )
2016
31
Infliximab-induced cutaneous eruption resembling pityriasis rubra pilaris in a patient with Takayasu's arteritis. ( 27862745 )
2016
32
Case of pityriasis rubra pilaris with annular pattern as an early manifestation. ( 27264697 )
2016
33
Bevacizumab-induced pityriasis rubra pilaris-like eruption. ( 27365893 )
2016
34
Pityriasis rubra pilaris-like eruption following insulin therapy initiation. ( 27867741 )
2016
35
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
36
Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. ( 26963004 )
2016
37
Successful Treatment of Refractory Pityriasis Rubra Pilaris With Secukinumab. ( 27706476 )
2016
38
Pityriasis rubra pilaris and mesangial proliferative glomerulonephritis in a child: Association or coincidence? ( 26937085 )
2016
39
Photosensitive pityriasis rubra pilaris. ( 27512362 )
2016
40
Ineffectiveness of tumor necrosis factor-I+ blockers and ustekinumab in a case of type IV pityriasis rubra pilaris. ( 26009720 )
2015
41
Surgical Management of Cicatricial Ectropion in Pityriasis Rubra Pilaris. ( 25794020 )
2015
42
Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-I_B. ( 25734815 )
2015
43
The Incidence of Acantholysis in Pityriasis Rubra Pilaris-Histopathological Study Using Multiple-Step Sections and Clinicopathologic Correlations. ( 26381023 )
2015
44
Dermoscopy of circumscribed juvenile pityriasis rubra pilaris. ( 25500045 )
2015
45
Ustekinumab as an alternative treatment option for chronic pityriasis rubra pilaris. ( 25969677 )
2015
46
Pityriasis rubra pilaris with histologic features of lichen nitidus. ( 26183985 )
2015
47
Pityriasis rubra pilaris occurring after vaccination with diphtheria-pertussis-tetanus and oral poliovirus vaccines. ( 26515846 )
2015
48
Treatment of Refractory Pityriasis Rubra Pilaris With Novel Phosphodiesterase 4 (PDE4) Inhibitor Apremilast. ( 26536384 )
2015
49
Successful response of refractory type I adult-onset pityriasis rubra pilaris with ustekinumab and acitretin combination therapy. ( 25982628 )
2015
50
Pityriasis rubra pilaris-like eruption with dermatomyositis and diffuse cutaneous systemic sclerosis overlap. ( 25758527 )
2015

Variations for Pityriasis Rubra Pilaris

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

71
# 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
# 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:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 CARD14 TNFRSF1B
2 inflammatory response GO:0006954 8.8 IL1RL2 IL36RN TNFRSF1B

Sources for Pityriasis Rubra Pilaris

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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