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Erythrokeratodermia variabilis et progressiva 4(EKVP4)

MedGen UID:
1372799
Concept ID:
C4479620
Disease or Syndrome
Synonym: EKVP4
 
Gene (location): KDSR (18q21.33)
 
Monarch Initiative: MONDO:0033014
OMIM®: 617526

Definition

Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017). For a 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.
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.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
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).
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.

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

Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P
JAMA Neurol 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337. PMID: 24566826
Fuchs-Telem D, Pessach Y, Mevorah B, Shirazi I, Sarig O, Sprecher E
Clin Exp Dermatol 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x. PMID: 21564177
Stănescu L, Georgescu CV, Georgescu AC, Georgescu I, Călin G
Rom J Morphol Embryol 2007;48(4):443-7. PMID: 18060199
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Maekawa Y, Yasaka S
J Dermatol 1977 Aug;4(4):147-50. doi: 10.1111/j.1346-8138.1977.tb01028.x. PMID: 15461342

Diagnosis

Mikilita ES, Hernandez IP, Boff AL, Kiszewski AE
An Bras Dermatol 2020 Jul-Aug;95(4):484-489. Epub 2020 May 5 doi: 10.1016/j.abd.2019.09.030. PMID: 32482553Free PMC Article
Wu JP, Ge HS, Yang C
Chin Med J (Engl) 2020 Feb 20;133(4):501-502. doi: 10.1097/CM9.0000000000000633. PMID: 31977560Free PMC Article
Takeichi T, Sugiura K, Hsu CK, Nomura T, Takama H, Simpson MA, Shimizu H, McGrath JA, Akiyama M
Acta Derm Venereol 2016 May;96(4):557-9. doi: 10.2340/00015555-2307. PMID: 26632638
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Therapy

Wu JP, Ge HS, Yang C
Chin Med J (Engl) 2020 Feb 20;133(4):501-502. doi: 10.1097/CM9.0000000000000633. PMID: 31977560Free PMC Article
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
van de Kerkhof PC, Steijlen PM, van Dooren-Greebe RJ, Happle R
Dermatologica 1990;181(4):330-3. doi: 10.1159/000247841. PMID: 2150049
Rappaport IP, Goldes JA, Goltz RW
Arch Dermatol 1986 Apr;122(4):441-5. PMID: 2420287

Prognosis

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
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
Landau M, Cohen-Bar-Dayan M, Hohl D, Ophir J, Wolf CR, Gat A, Mevorah B
Pediatr Dermatol 2002 Jul-Aug;19(4):285-92. doi: 10.1046/j.1525-1470.2002.00085.x. PMID: 12220269
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

de Oliveira RTG, Christofolini DM, Criado PR, Lacaz Martins E, Kelsell D, Machado Filho CDS
Int J Dermatol 2020 Jun;59(6):722-725. Epub 2020 Apr 20 doi: 10.1111/ijd.14894. PMID: 32311086
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
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
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
Rappaport IP, Goldes JA, Goltz RW
Arch Dermatol 1986 Apr;122(4):441-5. PMID: 2420287

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