U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Erythrokeratodermia variabilis et progressiva 7(EKVP7)

MedGen UID:
1780408
•Concept ID:
C5543106
•
Disease or Syndrome
Synonyms: EKVP7; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7
 
Gene (location): PERP (6q23.3)
 
Monarch Initiative: MONDO:0030941
OMIM®: 619209

Definition

Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present (Duchatelet et al., 2019; Patel et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). [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
Anhidrosis
MedGen UID:
1550
•Concept ID:
C0003028
•
Disease or Syndrome
Inability to sweat.
See: Feature record | Search on this feature
Wooly hair
MedGen UID:
87469
•Concept ID:
C0343073
•
Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
See: Feature record | Search on this feature
Dystrophic toenail
MedGen UID:
318813
•Concept ID:
C1833225
•
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
See: Feature record | Search on this feature
Show allHide all

Recent clinical studies

Etiology

The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Cohen-Barak E, Godsel LM, Koetsier JL, Hegazy M, Kushnir-Grinbaum D, Hammad H, Danial-Farran N, Harmon R, Khayat M, Bochner R, Peled A, Rozenblat M, Krausz J, Sarig O, Johnson JL, Ziv M, Shalev SA, Sprecher E, Green KJ
J Invest Dermatol 2020 Mar;140(3):556-567.e9. Epub 2019 Aug 26 doi: 10.1016/j.jid.2019.08.433. PMID: 31465738Free PMC Article

Diagnosis

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K
JAMA Neurol 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610. PMID: 26010696
Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis. Two rare genodermatoses.
Merchant A, Zhao TZ, Foster CS
Ophthalmology 1998 Jul;105(7):1286-91. doi: 10.1016/S0161-6420(98)97035-X. PMID: 9663235

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

Prognosis

The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Cohen-Barak E, Godsel LM, Koetsier JL, Hegazy M, Kushnir-Grinbaum D, Hammad H, Danial-Farran N, Harmon R, Khayat M, Bochner R, Peled A, Rozenblat M, Krausz J, Sarig O, Johnson JL, Ziv M, Shalev SA, Sprecher E, Green KJ
J Invest Dermatol 2020 Mar;140(3):556-567.e9. Epub 2019 Aug 26 doi: 10.1016/j.jid.2019.08.433. PMID: 31465738Free PMC Article
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J, Batissoco AC, Jesus-Santos R, Abath-Neto O, Scarpelli LC, Nishimura PY, Galindo LT, Bento RF, Oiticica J, Lezirovitz K
Ann Hum Genet 2018 Jan;82(1):23-34. Epub 2017 Oct 17 doi: 10.1111/ahg.12213. PMID: 29044474

Clinical prediction guides

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J, Batissoco AC, Jesus-Santos R, Abath-Neto O, Scarpelli LC, Nishimura PY, Galindo LT, Bento RF, Oiticica J, Lezirovitz K
Ann Hum Genet 2018 Jan;82(1):23-34. Epub 2017 Oct 17 doi: 10.1111/ahg.12213. PMID: 29044474
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.
Saba TG, Montpetit A, Verner A, Rioux P, Hudson TJ, Drouin R, Drouin CA
Hum Genet 2005 Feb;116(3):167-71. Epub 2004 Nov 25 doi: 10.1007/s00439-004-1193-8. PMID: 15668823

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
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...