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Erythrokeratodermia variabilis et progressiva 1(EKVP1)

MedGen UID:
1633225
Concept ID:
C4551486
Disease or Syndrome
Synonyms: Autosomal Dominant Erythrokeratodermia Variabilis; EKVP1; ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
 
Gene (location): GJB3 (1p34.3)
 
Monarch Initiative: MONDO:0033010
OMIM®: 133200

Definition

Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.

The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days. [from MedlinePlus Genetics]

Clinical features

From HPO
Patchy palmoplantar hyperkeratosis
MedGen UID:
867273
Concept ID:
C4021633
Disease or Syndrome
A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Generalized hyperkeratosis
MedGen UID:
370776
Concept ID:
C1969913
Finding
Hypergranulosis
MedGen UID:
481177
Concept ID:
C3279547
Finding
Hypergranulosis is an increased thickness of the stratum granulosum.

Professional guidelines

PubMed

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223
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

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
Zhang L, Huo W, Gao XH, Ma L, Xiu Y, Zheng S, Hong Y, Chen HD
Acta Derm Venereol 2010 May;90(3):274-8. doi: 10.2340/00015555-0821. PMID: 20526545
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, van Leeuwen-Cornelisse I, van Haeringen A, Went LN
Hum Genet 1988 Sep;80(1):97-8. doi: 10.1007/BF00451466. PMID: 3417312
Maekawa Y, Yasaka S
J Dermatol 1977 Aug;4(4):147-50. doi: 10.1111/j.1346-8138.1977.tb01028.x. PMID: 15461342

Diagnosis

Fukaura R, Takeichi T, Okuno Y, Kojima D, Kono M, Sugiura K, Suga Y, Akiyama M
Acta Derm Venereol 2017 Mar 10;97(3):399-401. doi: 10.2340/00015555-2553. PMID: 27786350
Guaraldi Bde M, Jaime TJ, Guaraldi Rde M, Melo DF, Nogueira OM, Rodrigues N
An Bras Dermatol 2013 Jan-Feb;88(1):109-12. doi: 10.1590/s0365-05962013000100016. PMID: 23539014Free PMC Article
Singh N, Thappa DM
Pediatr Dermatol 2010 Jan-Feb;27(1):111-3. doi: 10.1111/j.1525-1470.2009.01044.x. PMID: 20199434
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Rabionet R, Gasparini P, Estivill X
Hum Mutat 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. PMID: 10980526

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
Guaraldi Bde M, Jaime TJ, Guaraldi Rde M, Melo DF, Nogueira OM, Rodrigues N
An Bras Dermatol 2013 Jan-Feb;88(1):109-12. doi: 10.1590/s0365-05962013000100016. PMID: 23539014Free PMC Article
Zhang L, Huo W, Gao XH, Ma L, Xiu Y, Zheng S, Hong Y, Chen HD
Acta Derm Venereol 2010 May;90(3):274-8. doi: 10.2340/00015555-0821. PMID: 20526545
Singh N, Thappa DM
Pediatr Dermatol 2010 Jan-Feb;27(1):111-3. doi: 10.1111/j.1525-1470.2009.01044.x. PMID: 20199434
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Prognosis

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
Zhang L, Huo W, Gao XH, Ma L, Xiu Y, Zheng S, Hong Y, Chen HD
Acta Derm Venereol 2010 May;90(3):274-8. doi: 10.2340/00015555-0821. PMID: 20526545
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223
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

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
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223
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
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
van der Schroeff JG, van Leeuwen-Cornelisse I, van Haeringen A, Went LN
Hum Genet 1988 Sep;80(1):97-8. doi: 10.1007/BF00451466. PMID: 3417312

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