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Epidermolytic hyperkeratosis 2(EHK2)

MedGen UID:
1831005
Concept ID:
C5781877
Disease or Syndrome
Synonyms: EHK2; EPIDERMOLYTIC HYPERKERATOSIS 2
 
Related gene: KRT10
 
Monarch Initiative: MONDO:0958184
OMIM®: 148080; 620150

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.
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.
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.
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.
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.
Generalized hyperkeratosis
MedGen UID:
370776
Concept ID:
C1969913
Finding
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Cobblestone-like hyperkeratosis
MedGen UID:
1626235
Concept ID:
C4531224
Disease or Syndrome
The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Clabbers J, van Oosten NV, Bolling M, Vreeburg M, van Geel M, Steijlen P, Gostynski A
Dermatology 2024;240(1):170-177. Epub 2023 Sep 4 doi: 10.1159/000533934. PMID: 37666225
Tsai JH, Tsai TF
Dermatitis 2024 Jan-Feb;35(1):24-42. Epub 2023 May 19 doi: 10.1089/derm.2022.0096. PMID: 37205852
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

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
Kazlouskaya V, Lambe J, Elston D
J Cutan Pathol 2013 Aug;40(8):701-7. Epub 2013 May 24 doi: 10.1111/cup.12165. PMID: 23710687
Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T
Exp Dermatol 2013 Feb;22(2):83-7. Epub 2012 Oct 8 doi: 10.1111/exd.12021. PMID: 23039137
Abbas O, Wieland CN, Goldberg LJ
J Eur Acad Dermatol Venereol 2011 Feb;25(2):175-80. Epub 2010 Jun 9 doi: 10.1111/j.1468-3083.2010.03736.x. PMID: 20553361
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Diagnosis

Tsai JH, Tsai TF
Dermatitis 2024 Jan-Feb;35(1):24-42. Epub 2023 May 19 doi: 10.1089/derm.2022.0096. PMID: 37205852
Putra PB, Radiono S, Danarti R
Dermatol Online J 2021 Feb 15;27(2) PMID: 33818988
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
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E
Am J Dermatopathol 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. PMID: 28121638Free PMC Article
Brownstein MH
J Am Acad Dermatol 1988 Nov;19(5 Pt 1):783-6. doi: 10.1016/s0190-9622(88)70234-0. PMID: 2461398

Therapy

Tsai JH, Tsai TF
Dermatitis 2024 Jan-Feb;35(1):24-42. Epub 2023 May 19 doi: 10.1089/derm.2022.0096. PMID: 37205852
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Virtanen M, Gedde-Dahl T Jr, Mörk NJ, Leigh I, Bowden PE, Vahlquist A
Acta Derm Venereol 2001 Jun-Jul;81(3):163-70. doi: 10.1080/000155501750376221. PMID: 11558869
Plewig G, Christophers E
Arch Dermatol 1975 Feb;111(2):223-6. PMID: 123434

Prognosis

Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z
J Eur Acad Dermatol Venereol 2022 Oct;36(10):1857-1862. Epub 2022 May 12 doi: 10.1111/jdv.18189. PMID: 35490383
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E
Am J Dermatopathol 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. PMID: 28121638Free PMC Article
Kazlouskaya V, Lambe J, Elston D
J Cutan Pathol 2013 Aug;40(8):701-7. Epub 2013 May 24 doi: 10.1111/cup.12165. PMID: 23710687
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Clinical prediction guides

Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z
J Eur Acad Dermatol Venereol 2022 Oct;36(10):1857-1862. Epub 2022 May 12 doi: 10.1111/jdv.18189. PMID: 35490383
Putra PB, Radiono S, Danarti R
Dermatol Online J 2021 Feb 15;27(2) PMID: 33818988
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E
Am J Dermatopathol 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. PMID: 28121638Free PMC Article
Abbas O, Wieland CN, Goldberg LJ
J Eur Acad Dermatol Venereol 2011 Feb;25(2):175-80. Epub 2010 Jun 9 doi: 10.1111/j.1468-3083.2010.03736.x. PMID: 20553361
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

Recent systematic reviews

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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