Pityriasis rubra pilaris

General Information (adopted from Orphanet):

Synonyms, Signs: PRP
Number of Symptoms 33
OrphanetNr: 2897
OMIM Id: 173200
ICD-10: L44.0
UMLs: C0032027
MeSH: D010916
MedDRA: 10035116
Snomed: 3755001

Prevalence, inheritance and age of onset:

Prevalence: 48 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Erythrokeratoderma
 -Rare skin disease
Genetic erythrokeratoderma
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
2
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
3
 (HPO:0008392) Subungual hyperkeratosis 6 / 7739
4
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
5
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
6
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
7
 (HPO:0100725) Lichenification Occasional [Orphanet] 14 / 7739
8
 (HPO:0000989) Pruritus Frequent [Orphanet] 111 / 7739
9
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
10
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
11
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
12
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
13
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
14
 (HPO:0200039) Pustule Occasional [Orphanet] 20 / 7739
15
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Scaly scalp (in some patients) 1 / 7739
18
 (OMIM) Papules, keratotic follicular 1 / 7739
19
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
20
 (OMIM) Mild acanthosis, with broad and blunted rete ridges 1 / 7739
21
 (OMIM) Mononuclear cell infiltrate in the dermis 1 / 7739
22
 (OMIM) Hyperkeratosis, mild to moderate 1 / 7739
23
 (OMIM) Islands of uninvolved skin 1 / 7739
24
 (OMIM) Nail plate thickening 1 / 7739
25
 (OMIM) Focal keratotic plugging 1 / 7739
26
 (OMIM) Transverse ridging 2 / 7739
27
 (OMIM) Focal orthokeratosis 1 / 7739
28
 (OMIM) Discoloration, yellow-brown 1 / 7739
29
 (OMIM) Ectropion, bilateral (in some patients) 1 / 7739
30
 (OMIM) Splinter hemorrhages 2 / 7739
31
 (OMIM) Plaques, erythematous, covered with fine powdery scales 1 / 7739
32
 (OMIM) Focal parakeratosis 1 / 7739
33
 (OMIM) Focal hypergranulosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Pityriasis rubra pilaris is 'characterized by scaly and horny productions situated chiefly in the sebaceous follicles and by a more or less generalized hyperemia' to use the words of DeVergie who first described it (Zeisler, 1923) in a ...
Molecular genetics OMIM After next-generation sequencing failed to identify the proximal cause of autosomal dominant pityriasis rubra pilaris mapping to chromosome 17q25 in 3 families, Fuchs-Telem et al. (2012) sequenced functionally relevant candidate exons within the critical interval and identified heterozygosity ...