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Pityriasis rubra pilaris(PRP)

MedGen UID:
45939
Concept ID:
C0032027
Disease or Syndrome
Synonyms: Pityriasis rubra pilaris--familial type; PRP
SNOMED CT: PRP - Pityriasis rubra pilaris (3755001); Pityriasis rubra pilaris (3755001); Lichen ruber acuminatus (3755001); Devergie's disease (3755001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CARD14 (17q25.3)
 
Monarch Initiative: MONDO:0100017
OMIM®: 173200
Orphanet: ORPHA2897

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.  https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Subungual hyperkeratosis
MedGen UID:
21379
Concept ID:
C0038605
Finding
A thickening of the stratum corneum in the region beneath the nails.
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Erythematous plaque
MedGen UID:
568360
Concept ID:
C0332477
Finding
A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPityriasis rubra pilaris
Follow this link to review classifications for Pityriasis rubra pilaris in Orphanet.

Professional guidelines

PubMed

Guenther J, Novack D, Kamath S, Worswick S
Paediatr Drugs 2023 Mar;25(2):151-164. Epub 2022 Dec 18 doi: 10.1007/s40272-022-00549-4. PMID: 36529810
Chu S, Michelle L, Ekelem C, Sung CT, Rojek N, Mesinkovska NA
Arch Dermatol Res 2021 Aug;313(6):391-430. Epub 2020 Nov 5 doi: 10.1007/s00403-020-02152-4. PMID: 33151346
Roenneberg S, Biedermann T
J Eur Acad Dermatol Venereol 2018 Jun;32(6):889-898. Epub 2018 Jan 17 doi: 10.1111/jdv.14761. PMID: 29247481

Recent clinical studies

Etiology

Joshi TP, Duvic M
Am J Clin Dermatol 2024 Mar;25(2):243-259. Epub 2023 Dec 30 doi: 10.1007/s40257-023-00836-x. PMID: 38159213
Sanchez I, Ibraheim MK, Lee BA, Kraus CN, Elsensohn A
Am J Dermatopathol 2023 Dec 1;45(12):820-821. doi: 10.1097/DAD.0000000000002550. PMID: 37883982
Guenther J, Novack D, Kamath S, Worswick S
Paediatr Drugs 2023 Mar;25(2):151-164. Epub 2022 Dec 18 doi: 10.1007/s40272-022-00549-4. PMID: 36529810
Sehgal VN, Srivastava G, Dogra S
Indian J Dermatol Venereol Leprol 2008 Jul-Aug;74(4):311-21. doi: 10.4103/0378-6323.42889. PMID: 18797049
Weinstein GD
Ann Intern Med 1977 Feb;86(2):199-204. doi: 10.7326/0003-4819-86-2-199. PMID: 319725

Diagnosis

Zhou T, Al Muqrin A, Abu-Hilal M
J Cutan Med Surg 2024 Mar-Apr;28(2):158-166. Epub 2024 Jan 4 doi: 10.1177/12034754231223159. PMID: 38174859Free PMC Article
Bobotsis R, Brathwaite S, Eshtiaghi P, Rodriguez-Bolanos F, Doiron P
Clin Dermatol 2024 Mar-Apr;42(2):169-179. Epub 2023 Dec 22 doi: 10.1016/j.clindermatol.2023.12.004. PMID: 38142786
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA
J Am Acad Dermatol 2018 Sep;79(3):487-494. Epub 2018 Mar 1 doi: 10.1016/j.jaad.2018.02.034. PMID: 29477734Free PMC Article
Wang D, Chong VC, Chong WS, Oon HH
Am J Clin Dermatol 2018 Jun;19(3):377-390. doi: 10.1007/s40257-017-0338-1. PMID: 29302927
Roenneberg S, Biedermann T
J Eur Acad Dermatol Venereol 2018 Jun;32(6):889-898. Epub 2018 Jan 17 doi: 10.1111/jdv.14761. PMID: 29247481

Therapy

Guenther J, Novack D, Kamath S, Worswick S
Paediatr Drugs 2023 Mar;25(2):151-164. Epub 2022 Dec 18 doi: 10.1007/s40272-022-00549-4. PMID: 36529810
Ye L, Wu Z, Li C, Zhao X, Wan M, Wang L
Dermatol Ther 2022 Dec;35(12):e15910. Epub 2022 Dec 8 doi: 10.1111/dth.15910. PMID: 36208443
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA
J Am Acad Dermatol 2018 Sep;79(3):487-494. Epub 2018 Mar 1 doi: 10.1016/j.jaad.2018.02.034. PMID: 29477734Free PMC Article
Wang D, Chong VC, Chong WS, Oon HH
Am J Clin Dermatol 2018 Jun;19(3):377-390. doi: 10.1007/s40257-017-0338-1. PMID: 29302927
Roenneberg S, Biedermann T
J Eur Acad Dermatol Venereol 2018 Jun;32(6):889-898. Epub 2018 Jan 17 doi: 10.1111/jdv.14761. PMID: 29247481

Prognosis

Vance P, Wyles S, Alavi A
Adv Skin Wound Care 2022 Jun 1;35(6):1-4. doi: 10.1097/01.ASW.0000826828.53117.8c. PMID: 35703855
Pediatr Dermatol 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. PMID: 31778571
Wang D, Chong VC, Chong WS, Oon HH
Am J Clin Dermatol 2018 Jun;19(3):377-390. doi: 10.1007/s40257-017-0338-1. PMID: 29302927
Roenneberg S, Biedermann T
J Eur Acad Dermatol Venereol 2018 Jun;32(6):889-898. Epub 2018 Jan 17 doi: 10.1111/jdv.14761. PMID: 29247481
Klein A, Landthaler M, Karrer S
Am J Clin Dermatol 2010;11(3):157-70. doi: 10.2165/11530070-000000000-00000. PMID: 20184391

Clinical prediction guides

Zhou T, Al Muqrin A, Abu-Hilal M
J Cutan Med Surg 2024 Mar-Apr;28(2):158-166. Epub 2024 Jan 4 doi: 10.1177/12034754231223159. PMID: 38174859Free PMC Article
Ye L, Wu Z, Li C, Zhao X, Wan M, Wang L
Dermatol Ther 2022 Dec;35(12):e15910. Epub 2022 Dec 8 doi: 10.1111/dth.15910. PMID: 36208443
Wu KK, Dao H Jr
J Dermatolog Treat 2022 Feb;33(1):41-47. Epub 2020 Mar 9 doi: 10.1080/09546634.2020.1737638. PMID: 32116066
Napolitano M, Abeni D, Didona B
J Am Acad Dermatol 2018 Aug;79(2):353-359.e11. Epub 2018 Mar 30 doi: 10.1016/j.jaad.2018.03.036. PMID: 29609014
Vanderhooft SL, Francis JS, Holbrook KA, Dale BA, Fleckman P
Arch Dermatol 1995 Apr;131(4):448-53. PMID: 7726588

Recent systematic reviews

Sanchez I, Ibraheim MK, Lee BA, Kraus CN, Elsensohn A
Am J Dermatopathol 2023 Dec 1;45(12):820-821. doi: 10.1097/DAD.0000000000002550. PMID: 37883982
Chu S, Michelle L, Ekelem C, Sung CT, Rojek N, Mesinkovska NA
Arch Dermatol Res 2021 Aug;313(6):391-430. Epub 2020 Nov 5 doi: 10.1007/s00403-020-02152-4. PMID: 33151346
Engelmann C, Elsner P, Miguel D
Eur J Dermatol 2019 Oct 1;29(5):524-537. doi: 10.1684/ejd.2019.3641. PMID: 31789274
Kromer C, Sabat R, Celis D, Mössner R
J Dtsch Dermatol Ges 2019 Mar;17(3):243-259. Epub 2018 Dec 6 doi: 10.1111/ddg.13718. PMID: 30520557
Petrof G, Almaani N, Archer CB, Griffiths WA, Smith CH
J Eur Acad Dermatol Venereol 2013 Jan;27(1):e131-5. Epub 2012 Feb 10 doi: 10.1111/j.1468-3083.2012.04456.x. PMID: 22324561

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