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Palmoplantar keratoderma, epidermolytic, 2(EPPK2)

MedGen UID:
445412
Concept ID:
C2936837
Disease or Syndrome
Synonyms: EPPK2; GREITHER SYNDROME; KERATOSIS OF GREITHER
 
Gene (location): KRT1 (12q13.13)
 
Monarch Initiative: MONDO:0957303
OMIM®: 620411

Definition

Epidermolytic palmoplantar keratoderma-2 (EPPK2) is an autosomal dominant skin disorder in which affected individuals have hyperkeratosis restricted to palms and soles present from birth or childhood (Hatsell et al., 2001; Nakamizo et al., 2023). In some individuals with EPPK2, keratoderma involving the palms and soles extends to the dorsal surfaces of the hands and feet and involves the skin over the Achilles tendon (transgrediens), a phenotype known as Greither syndrome (Gach et al., 2005). For a discussion of genetic heterogeneity of epidermolytic palmoplantar keratoderma, and of palmoplantar keratoderma in general, see 144200. [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.
Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G
Br J Dermatol 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x. PMID: 21271994

Recent clinical studies

Etiology

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
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
Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES
J Dermatol Sci 1999 Feb;19(2):126-33. doi: 10.1016/s0923-1811(98)00055-3. PMID: 10098704
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401

Diagnosis

Putra PB, Radiono S, Danarti R
Dermatol Online J 2021 Feb 15;27(2) PMID: 33818988
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
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401
Salamon T
Dermatology 1993;186(4):245-7. doi: 10.1159/000247362. PMID: 8513187
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

Therapy

Zieman AG, Poll BG, Ma J, Coulombe PA
Hum Mol Genet 2019 Jul 1;28(13):2255-2270. doi: 10.1093/hmg/ddz050. PMID: 31220272Free PMC Article
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
Findlay GH
S Afr Med J 1983 Jul 9;64(2):54-6. PMID: 6867876

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
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
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

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
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
Bergman R, Khamaysi Z, Sprecher E
Am J Dermatopathol 2008 Apr;30(2):101-5. doi: 10.1097/DAD.0b013e3181614898. PMID: 18360110
Korge BP, Krieg T
J Mol Med (Berl) 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. PMID: 8820401

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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