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Erythrokeratodermia variabilis et progressiva 2(EKVP2)

MedGen UID:
1379712
Concept ID:
C4479618
Disease or Syndrome
Synonym: EKVP2
 
Gene (location): GJB4 (1p34.3)
 
Monarch Initiative: MONDO:0033012
OMIM®: 617524

Definition

Erythrokeratodermia variabilis et progressiva-2 (EKVP2) is a genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The severity and dominating features of the disease vary strikingly within families and also during an individual's course of disease. The erythematous component usually prevails in young children, whereas hyperkeratosis is the dominant or sole feature in adults. Some patients with EKVP2 display lesions resembling erythema gyratum repens (summary by Richard et al., 2003). EKVP was previously thought to be separate disorders: erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratodermia (PSEK) (van Steensel et al., 2009). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). [from OMIM]

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.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Skin plaque
MedGen UID:
69134
Concept ID:
C0241148
Finding
A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.

Professional guidelines

PubMed

DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

Itin PH, Moschopulos M, Richard G
Am J Med Genet A 2003 Jul 15;120A(2):237-40. doi: 10.1002/ajmg.a.20036. PMID: 12833406
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
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

Diagnosis

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
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
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
Korczowski B, Rusin J, Grenda R, Antoniewicz J
Pediatr Int 2006 Apr;48(2):166-8. doi: 10.1111/j.1442-200X.2006.02195.x. PMID: 16635177
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Therapy

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
Singh N, Thappa DM
Pediatr Dermatol 2010 Jan-Feb;27(1):111-3. doi: 10.1111/j.1525-1470.2009.01044.x. PMID: 20199434
Korczowski B, Rusin J, Grenda R, Antoniewicz J
Pediatr Int 2006 Apr;48(2):166-8. doi: 10.1111/j.1442-200X.2006.02195.x. PMID: 16635177
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Prognosis

Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H
PLoS One 2021;16(10):e0258777. Epub 2021 Oct 20 doi: 10.1371/journal.pone.0258777. PMID: 34669720Free PMC Article
Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A
Eur J Dermatol 2012 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617. PMID: 22266302
Itin PH, Moschopulos M, Richard G
Am J Med Genet A 2003 Jul 15;120A(2):237-40. doi: 10.1002/ajmg.a.20036. PMID: 12833406
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
Nat Genet 1998 Dec;20(4):366-9. doi: 10.1038/3840. PMID: 9843209

Clinical prediction guides

Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H
PLoS One 2021;16(10):e0258777. Epub 2021 Oct 20 doi: 10.1371/journal.pone.0258777. PMID: 34669720Free PMC Article
Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A
Eur J Dermatol 2012 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617. PMID: 22266302
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
Nat Genet 1998 Dec;20(4):366-9. doi: 10.1038/3840. PMID: 9843209
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

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