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Epidermolytic hyperkeratosis 2

MedGen UID:
1052742
•Concept ID:
CN377629
•
Disease or Syndrome
Synonym: epidermolytic hyperkeratosis 2
 
Related gene: KRT10
 
Monarch Initiative: MONDO:0958184

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

A Review of Dupilumab-Induced Adverse Events to Dermatologists and the Potential Pathogenesis in the Treatment of Atopic Dermatitis.
Tsai JH, Tsai TF
Dermatitis 2024 Jan-Feb;35(1):24-42. Epub 2023 May 19 doi: 10.1089/derm.2022.0096. PMID: 37205852
Cover Image: Neuroendocrine treatment of inherited keratin disorders by cannabinoids?
Ramot Y, Oláh A, Paus R
Br J Dermatol 2018 Jun;178(6):1469. doi: 10.1111/bjd.16570. PMID: 29897115
Ichthyosis: etiology, diagnosis, and management.
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

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J
Acta Derm Venereol 2016 May;96(4):473-8. doi: 10.2340/00015555-2299. PMID: 26581228
Histologic features of alopecias: part II: scarring alopecias.
Bernárdez C, Molina-Ruiz AM, Requena L
Actas Dermosifiliogr 2015 May;106(4):260-70. Epub 2014 Oct 24 doi: 10.1016/j.ad.2014.06.016. PMID: 25439143
Treatment of hyperkeratosis with Kerafoam emollient foam (30% urea) to assess effectiveness and safety within a clinical setting: a case study report.
Goldstein JA, Gurge RM
J Drugs Dermatol 2008 Feb;7(2):159-62. PMID: 18335652
Multiple spreading epidermolytic acanthomas of the genital and perigenital skin.
Reguiaï Z, Cribier B, Derancourt C, Perceau G, Bernard P
Dermatology 2005;211(2):152-4. doi: 10.1159/000086447. PMID: 16088164
Treatment of ichthyosis with isotretinoin.
Baden HP, Buxman MM, Weinstein GD, Yoder FW
J Am Acad Dermatol 1982 Apr;6(4 Pt 2 Suppl):716-20. doi: 10.1016/s0190-9622(82)70062-3. PMID: 7040514

Diagnosis

Mosaic epidermolytic ichthyosis.
Mendes SR, Gameiro AR, Cardoso JC, Reis JP
BMJ Case Rep 2021 Feb 18;14(2) doi: 10.1136/bcr-2020-240424. PMID: 33602779Free PMC Article
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Mohamad J, Samuelov L, Assaf S, Vodo D, Sarig O, Sprecher E
Pediatr Dermatol 2021 Mar;38(2):538-540. Epub 2021 Feb 8 doi: 10.1111/pde.14529. PMID: 33555633
Acantholytic acanthoma.
Brownstein MH
J Am Acad Dermatol 1988 Nov;19(5 Pt 1):783-6. doi: 10.1016/s0190-9622(88)70234-0. PMID: 2461398
Epidermolytic palmo-plantar keratoderma.
Thomas JR 3rd, Greene SL, Su WP
Int J Dermatol 1984 Dec;23(10):652-5. doi: 10.1111/j.1365-4362.1984.tb01225.x. PMID: 6241180
Histopathologic varieties of epidermal nevus. A study of 160 cases.
Su WP
Am J Dermatopathol 1982 Apr;4(2):161-70. doi: 10.1097/00000372-198204000-00011. PMID: 7048967

Therapy

Systematized epidermal nevus with epidermolytic hyperkeratosis improving with topical calcipotriol/betametasone dipropionate combination ointment.
Koh MJ, Lee JS, Chong WS
Pediatr Dermatol 2013 May-Jun;30(3):370-3. Epub 2012 Sep 3 doi: 10.1111/j.1525-1470.2012.01818.x. PMID: 22938157
Digitate hyperkeratosis.
Gulia A, Di Cesare A, Peris K
J Dtsch Dermatol Ges 2012 Feb;10(2):136-7. Epub 2011 Dec 8 doi: 10.1111/j.1610-0387.2011.07854.x. PMID: 22151800
Painless genital papules and plaques.
Berryman JL, Nutt TJ, Groo SC
Dermatol Online J 2008 Feb 28;14(2):7. PMID: 18700110
Treatment of hyperkeratosis with Kerafoam emollient foam (30% urea) to assess effectiveness and safety within a clinical setting: a case study report.
Goldstein JA, Gurge RM
J Drugs Dermatol 2008 Feb;7(2):159-62. PMID: 18335652
Treatment of ichthyosis with isotretinoin.
Baden HP, Buxman MM, Weinstein GD, Yoder FW
J Am Acad Dermatol 1982 Apr;6(4 Pt 2 Suppl):716-20. doi: 10.1016/s0190-9622(82)70062-3. PMID: 7040514

Prognosis

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.
Liang J, Chen P, Chen H, Tian X, Wu Z, Zhang S, Li C, Zhang X
J Dermatol 2018 Aug;45(8):1003-1008. Epub 2018 May 14 doi: 10.1111/1346-8138.14462. PMID: 29756235
Multiple spreading epidermolytic acanthomas of the genital and perigenital skin.
Reguiaï Z, Cribier B, Derancourt C, Perceau G, Bernard P
Dermatology 2005;211(2):152-4. doi: 10.1159/000086447. PMID: 16088164
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH
Clin Exp Dermatol 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x. PMID: 11167982
KID syndrome associated with features of ichthyosis hystrix.
Nousari HC, Kimyai-Asadi A, Pinto JL
Pediatr Dermatol 2000 Mar-Apr;17(2):115-7. doi: 10.1046/j.1525-1470.2000.01726.x. PMID: 10792799
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR
Exp Dermatol 1999 Apr;8(2):124-7. doi: 10.1111/j.1600-0625.1999.tb00359.x. PMID: 10232403

Clinical prediction guides

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M
Int J Mol Sci 2022 Jul 14;23(14) doi: 10.3390/ijms23147791. PMID: 35887135Free PMC Article
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH
Clin Exp Dermatol 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x. PMID: 11167982
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA
Br J Dermatol 1999 Apr;140(4):689-95. doi: 10.1046/j.1365-2133.1999.02772.x. PMID: 10233323
Epidermolytic hyperkeratosis in nevi. A possible marker for atypia.
Williams BT, Barr RJ
Am J Dermatopathol 1996 Apr;18(2):156-8. doi: 10.1097/00000372-199604000-00008. PMID: 8739990
The fibrous proteins in various types of ichthyosis.
Baden HP, Goldsmith LA, Lee LD
J Invest Dermatol 1975 Aug;65(2):228-30. doi: 10.1111/1523-1747.ep12598237. PMID: 1151114

Recent systematic reviews

Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders.
Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L
J Am Acad Dermatol 2008 Jul;59(1):86-90. doi: 10.1016/j.jaad.2008.02.031. PMID: 18571597Free PMC Article

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