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Focal palmoplantar keratoderma

MedGen UID:
419939
•Concept ID:
C2931923
•
Disease or Syndrome
Synonyms: Early onset tylosis (type B); Familial tylosis; FNEPPK; Focal non epidermolytic palmoplantar keratoderma; Focal Non-Epidermolytic Palmoplantar Keratoderma; Focal Nonepidermolytic Palmoplantar Keratoderma; Focal Palmoplantar Keratoderma; Hyperkeratosis of the palms and soles and esophageal papillomas; Keratoderma, Focal Nonepidermolytic Palmoplantar; Late onset tylosis (type A); Palmoplantar Keratoderma, Nonepidermolytic, Focal
 
Monarch Initiative: MONDO:0017672
OMIM®: 612315; 613000
Orphanet: ORPHA307837

Recent clinical studies

Etiology

Unilateral focal palmoplantar keratoderma associated with a postzygotic variant in PIK3CA and activation of the PI3K/AKT/mTOR pathway.
Gong Z, Peng S, Wang H, Jiang X, Ke X, Lin Z
Eur J Dermatol 2024 Jun 1;34(3):287-293. doi: 10.1684/ejd.2024.4704. PMID: 39015962
How do keratinizing disorders and blistering disorders overlap?
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
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D
Br J Dermatol 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x. PMID: 21801157
Keratin K6c mutations cause focal palmoplantar keratoderma.
Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ
J Invest Dermatol 2010 Feb;130(2):425-9. Epub 2009 Jul 16 doi: 10.1038/jid.2009.215. PMID: 19609311
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
Milingou M, Wood P, Masouyé I, McLean WH, Borradori L
Dermatology 2006;212(2):117-22. doi: 10.1159/000090651. PMID: 16484817

Diagnosis

Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.
Musumeci ML, Fiorentini F, Bianchi L, Cascella R, Giardina E, Caputo V, Micali G
J Eur Acad Dermatol Venereol 2019 Oct;33 Suppl 6:36-39. doi: 10.1111/jdv.15851. PMID: 31535756
A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
Gönül M, Gül Ü, Kılıç A, Soylu S, Koçak O, Demiriz M
Int J Dermatol 2015 Mar;54(3):334-7. Epub 2013 Oct 29 doi: 10.1111/j.1365-4632.2012.05851.x. PMID: 25713981
Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
Morais P, Peralta L, Loureiro M, Coelho S
Acta Dermatovenerol Croat 2013;21(1):48-51. PMID: 23683487
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article
Keratin K6c mutations cause focal palmoplantar keratoderma.
Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ
J Invest Dermatol 2010 Feb;130(2):425-9. Epub 2009 Jul 16 doi: 10.1038/jid.2009.215. PMID: 19609311

Therapy

Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.
González-Ramos J, Sendagorta-Cudós E, González-López G, Mayor-Ibarguren A, Feltes-Ochoa R, Herranz-Pinto P
Dermatol Ther 2016 Jan-Feb;29(1):32-6. Epub 2015 Oct 7 doi: 10.1111/dth.12297. PMID: 26445325
A new variant of Vohwinkel syndrome: a case report.
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F
Dermatol Online J 2011 Mar 15;17(3):3. PMID: 21426869
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.
Trufant JW, Kreizenbeck GM, Carlson KR, Muthusamy V, Girardi M, Bosenberg MW
J Cutan Pathol 2010 Nov;37(11):1155-60. doi: 10.1111/j.1600-0560.2010.01557.x. PMID: 20849457

Prognosis

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D
Br J Dermatol 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x. PMID: 21801157
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article
Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus.
Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Field JK
Oncogene 2002 Sep 12;21(41):6395-402. doi: 10.1038/sj.onc.1205768. PMID: 12214281

Clinical prediction guides

A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
Gönül M, Gül Ü, Kılıç A, Soylu S, Koçak O, Demiriz M
Int J Dermatol 2015 Mar;54(3):334-7. Epub 2013 Oct 29 doi: 10.1111/j.1365-4632.2012.05851.x. PMID: 25713981
Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D
Br J Dermatol 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x. PMID: 21801157
Keratin K6c mutations cause focal palmoplantar keratoderma.
Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ
J Invest Dermatol 2010 Feb;130(2):425-9. Epub 2009 Jul 16 doi: 10.1038/jid.2009.215. PMID: 19609311
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.
Milingou M, Wood P, Masouyé I, McLean WH, Borradori L
Dermatology 2006;212(2):117-22. doi: 10.1159/000090651. PMID: 16484817
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH
Exp Dermatol 2000 Jun;9(3):170-7. doi: 10.1034/j.1600-0625.2000.009003170.x. PMID: 10839714

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