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Palmoplantar keratoderma with leukoplakia

MedGen UID:
96070
•Concept ID:
C0406766
•
Disease or Syndrome
Synonym: Palmoplantar Keratoderma with Leukoplakia
SNOMED CT: Palmoplantar keratoderma with leukoplakia (239075001)

Definition

A hereditary syndrome this is characterized by palmoplantar keratoderma accompanied by leukoplakia and may be associated with a high lifetime risk of esophageal cancer, as seen in Howel-Evans Syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPalmoplantar keratoderma with leukoplakia

Professional guidelines

PubMed

A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
Jenkins LE, Abner S, Schadt C
Dermatol Online J 2018 Jun 15;24(6) PMID: 30142717

Recent clinical studies

Etiology

Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips.
Baykal C, Savci N, Kavak A, Kurul S
Br J Dermatol 2002 Apr;146(4):680-3. doi: 10.1046/j.1365-2133.2002.04595.x. PMID: 11966705
Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations.
Ellis A, Field JK, Field EA, Friedmann PS, Fryer A, Howard P, Leigh IM, Risk J, Shaw JM, Whittaker J
Eur J Cancer B Oral Oncol 1994;30B(2):102-12. doi: 10.1016/0964-1955(94)90061-2. PMID: 8032299
Ultrastructure of the oral epithelium in leukoplakia associated with tylosis and esophageal carcinoma.
Tyldesley WR, Kempson SA
J Oral Pathol 1975 Sep;4(2):49-58. doi: 10.1111/j.1600-0714.1975.tb01852.x. PMID: 126306

Diagnosis

Oral verruciform hyperkeratotic lesions indicating the presence of plantar or palmoplantar keratodermas.
Koutlas IG, Argyris PP
Oral Surg Oral Med Oral Pathol Oral Radiol 2022 Oct;134(4):e267-e276. Epub 2022 Apr 21 doi: 10.1016/j.oooo.2022.04.044. PMID: 35989232
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
Arif T, Amin SS, Adil M, Mohtashim M
Acta Dermatovenerol Croat 2017 Jul;25(2):161-163. PMID: 28871934
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671
Palmoplantar keratoderma and leukokeratosis anogenitalis: the second case of a new disease.
Lautenschlager S, Pittelkow MR
Dermatology 1998;197(3):300-2. doi: 10.1159/000018019. PMID: 9812042

Therapy

Olmsted syndrome.
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790
A case of pachyonychia congenita with oral leukoplakia and steatocystoma multiplex.
Lim TW, Paik JH, Kim NI
J Dermatol 1999 Oct;26(10):677-81. doi: 10.1111/j.1346-8138.1999.tb02071.x. PMID: 10554435

Prognosis

Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips.
Baykal C, Savci N, Kavak A, Kurul S
Br J Dermatol 2002 Apr;146(4):680-3. doi: 10.1046/j.1365-2133.2002.04595.x. PMID: 11966705
A case of pachyonychia congenita with oral leukoplakia and steatocystoma multiplex.
Lim TW, Paik JH, Kim NI
J Dermatol 1999 Oct;26(10):677-81. doi: 10.1111/j.1346-8138.1999.tb02071.x. PMID: 10554435
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
Smith FJ, McKusick VA, Nielsen K, Pfendner E, Uitto J, McLean WH
Prenat Diagn 1999 Oct;19(10):941-6. PMID: 10521820
Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations.
Ellis A, Field JK, Field EA, Friedmann PS, Fryer A, Howard P, Leigh IM, Risk J, Shaw JM, Whittaker J
Eur J Cancer B Oral Oncol 1994;30B(2):102-12. doi: 10.1016/0964-1955(94)90061-2. PMID: 8032299

Clinical prediction guides

Oral verruciform hyperkeratotic lesions indicating the presence of plantar or palmoplantar keratodermas.
Koutlas IG, Argyris PP
Oral Surg Oral Med Oral Pathol Oral Radiol 2022 Oct;134(4):e267-e276. Epub 2022 Apr 21 doi: 10.1016/j.oooo.2022.04.044. PMID: 35989232
Identification of clinically useful predictive genetic variants in pachyonychia congenita.
Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E
Clin Exp Dermatol 2021 Jul;46(5):867-873. Epub 2021 Mar 17 doi: 10.1111/ced.14569. PMID: 33486795
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
Arif T, Amin SS, Adil M, Mohtashim M
Acta Dermatovenerol Croat 2017 Jul;25(2):161-163. PMID: 28871934
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
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671

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