|
PRP
MCID: PTY003
MIFTS: 51
|
Pityriasis Rubra Pilaris (PRP)
Categories:
Genetic diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Pityriasis Rubra Pilaris:
Characteristics:Orphanet epidemiological data:60
pityriasis rubra pilaris
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:58
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:33Classifications:
ICD10:
34
35
External Ids:
|
|
NIH Rare Diseases
:
54
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.
MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to psoriasis and pustulosis of palm and sole. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways/superpathways is IL-1 Family Signaling Pathways. The drugs Immunologic Factors and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are palmoplantar keratoderma and irregular hyperpigmentation OMIM : 58 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 : 76 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 : 77 Pityriasis rubra pilaris (also known as "Devergie''s disease", "lichen ruber acuminatus", and "lichen... more... |
Human phenotypes related to Pityriasis Rubra Pilaris:60 33 (show all 19)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:173200MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:47
|
Drugs for Pityriasis Rubra Pilaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: pityriasis rubra pilaris |
MalaCards organs/tissues related to Pityriasis Rubra Pilaris:42
Skin,
Brain,
Bone,
Thyroid,
Bone Marrow,
Spleen,
T Cells
|
Articles related to Pityriasis Rubra Pilaris:(show top 50) (show all 2150)
|
Genes related to Pityriasis Rubra Pilaris (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:76
ClinVar genetic disease variations for Pityriasis Rubra Pilaris:6 (show top 50) (show all 184)
|
|
Search
GEO
for disease gene expression data for Pityriasis Rubra Pilaris.
|
Biological processes related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:
|
|