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Erythrokeratodermia variabilis et progressiva 5(EKVP5)

MedGen UID:
1626376
•Concept ID:
C4540331
•
Disease or Syndrome
Synonyms: EKVP5; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
 
Gene (location): KRT83 (12q13.13)
 
Monarch Initiative: MONDO:0033015
OMIM®: 617756

Definition

Erythrokeratodermia variabilis et progressiva-5 (EKVP5) is an autosomal recessive skin disorder characterized by progressive development of symmetrically distributed hyperkeratotic plaques with palmoplantar hyperkeratosis and nail thickening (Shah et al., 2017). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Joint stiffness
MedGen UID:
56403
•Concept ID:
C0162298
•
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
See: Feature record | Search on this feature
Abnormality of the dentition
MedGen UID:
78084
•Concept ID:
C0262444
•
Finding
Any abnormality of the teeth.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Onychogryposis
MedGen UID:
82671
•Concept ID:
C0263537
•
Disease or Syndrome
Nail that appears thick when viewed on end.
See: Feature record | Search on this feature
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ
J Invest Dermatol 1997 Nov;109(5):666-71. doi: 10.1111/1523-1747.ep12337713. PMID: 9347797
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628
Genetic linkage between erythrokeratodermia variabilis and Rh locus.
van der Schroeff JG, Nijenhuis LE, Meera Khan P, Bernini LF, Schreuder GM, van Loghem E, Volkers WS, Went LN
Hum Genet 1984;68(2):165-8. doi: 10.1007/BF00279308. PMID: 6437964
Erythrokeratodermia variabilis in a patient followed through the first year of life.
Bond MJ, Donelan P, Fenske N
Cutis 1982 Nov;30(5):633-7. PMID: 7172743

Diagnosis

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.
Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, Bu D, Cao X, Hwang S, Yang Y, Zheng J, Lin Z
J Invest Dermatol 2019 May;139(5):1089-1097. Epub 2018 Dec 5 doi: 10.1016/j.jid.2018.10.044. PMID: 30528822
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
Zaki TD, Yoo KY, Kassardjian M, Choate KA
Pediatr Dermatol 2018 Nov;35(6):e414-e415. Epub 2018 Aug 28 doi: 10.1111/pde.13643. PMID: 30152556Free PMC Article
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C, Chen X, Chi J, Yang D, Liu S, Liu M, Pan Q, Fan J, Wang D, Zhang Z
Hum Mol Genet 2015 Nov 1;24(21):6054-65. Epub 2015 Aug 6 doi: 10.1093/hmg/ddv317. PMID: 26251042

Therapy

Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis.
Zhang L, Hong Y, Zheng S, Huo W, Qi R, Geng L, Chen HD, Gao XH
Dermatol Ther 2014 Jul-Aug;27(4):240-3. Epub 2014 Apr 22 doi: 10.1111/dth.12127. PMID: 24754264
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628
Is the use of Ro 10-9359 (Tigason) in children justified?
van der Rhee HJ, van Gelderen HH, Polano MK
Acta Derm Venereol 1980;60(3):274-5. PMID: 6158237

Prognosis

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K
Haematologica 2019 May;104(5):1036-1045. Epub 2018 Nov 22 doi: 10.3324/haematol.2018.204784. PMID: 30467204Free PMC Article
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628
Erythrokeratodermia variabilis in a patient followed through the first year of life.
Bond MJ, Donelan P, Fenske N
Cutis 1982 Nov;30(5):633-7. PMID: 7172743

Clinical prediction guides

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K
Haematologica 2019 May;104(5):1036-1045. Epub 2018 Nov 22 doi: 10.3324/haematol.2018.204784. PMID: 30467204Free PMC Article
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ
J Invest Dermatol 1997 Nov;109(5):666-71. doi: 10.1111/1523-1747.ep12337713. PMID: 9347797
Genetic linkage between erythrokeratodermia variabilis and Rh locus.
van der Schroeff JG, Nijenhuis LE, Meera Khan P, Bernini LF, Schreuder GM, van Loghem E, Volkers WS, Went LN
Hum Genet 1984;68(2):165-8. doi: 10.1007/BF00279308. PMID: 6437964

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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