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Type A Tylosis

MedGen UID:
891443
•Concept ID:
C4053908
•
Disease or Syndrome
Synonym: Late Onset Tylosis

Definition

An inherited form of tylosis that presents between 5-14 years of age and is characterized by focal areas of nonepidermolytic palmoplantar keratoderma. Individuals have an increased incidence of esophageal carcinoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVType A Tylosis

Recent clinical studies

Etiology

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Brandt E, Harjama L, Elomaa O, Saarela J, Donner K, Lappalainen K, Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K
J Eur Acad Dermatol Venereol 2024 Feb;38(2):413-418. Epub 2023 Sep 22 doi: 10.1111/jdv.19498. PMID: 37684051
Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.
Li P, Qi J, Zhong Y, Ding A, Xiao H
J Proteomics 2023 Sep 15;287:104971. Epub 2023 Jul 17 doi: 10.1016/j.jprot.2023.104971. PMID: 37467889
Candidate susceptibility variants for esophageal squamous cell carcinoma.
Donner I, Katainen R, Tanskanen T, Kaasinen E, Aavikko M, Ovaska K, Artama M, Pukkala E, Aaltonen LA
Genes Chromosomes Cancer 2017 Jun;56(6):453-459. Epub 2017 Apr 3 doi: 10.1002/gcc.22448. PMID: 28165652
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Diagnosis

Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.
Li P, Qi J, Zhong Y, Ding A, Xiao H
J Proteomics 2023 Sep 15;287:104971. Epub 2023 Jul 17 doi: 10.1016/j.jprot.2023.104971. PMID: 37467889
Candidate susceptibility variants for esophageal squamous cell carcinoma.
Donner I, Katainen R, Tanskanen T, Kaasinen E, Aavikko M, Ovaska K, Artama M, Pukkala E, Aaltonen LA
Genes Chromosomes Cancer 2017 Jun;56(6):453-459. Epub 2017 Apr 3 doi: 10.1002/gcc.22448. PMID: 28165652
Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.
Varela AB, Blanco Rodríguez MM, Boullosa PE, Silva JG
Eur J Gastroenterol Hepatol 2011 Mar;23(3):286-8. doi: 10.1097/MEG.0b013e328344042d. PMID: 21285883
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD, McLean WH
Exp Dermatol 1996 Dec;5(6):297-307. doi: 10.1111/j.1600-0625.1996.tb00133.x. PMID: 9028791
Lipoatrophic diabetes.
Sasaki T, Ono H, Nakajima H, Sugimoto J
J Dermatol 1992 Apr;19(4):246-9. doi: 10.1111/j.1346-8138.1992.tb03217.x. PMID: 1607489

Therapy

Spiny keratoderma of the palms and soles.
Osman Y, Daly TJ, Don PC
J Am Acad Dermatol 1992 May;26(5 Pt 2):879-81. doi: 10.1016/0190-9622(92)70128-3. PMID: 1535351
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Prognosis

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
Am J Hum Genet 2013 Nov 7;93(5):945-56. Epub 2013 Oct 24 doi: 10.1016/j.ajhg.2013.09.015. PMID: 24207119Free PMC Article
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Pityriasis rubra pilaris, type IV.
Bragg J, Witkiewicz A, Orlow SJ, Schaffer JV
Dermatol Online J 2005 Dec 30;11(4):14. PMID: 16403386
To B or not to B: is tylosis B truly benign? Two North American genealogies.
Maillefer RH, Greydanus MP
Am J Gastroenterol 1999 Mar;94(3):829-34. doi: 10.1111/j.1572-0241.1999.00954.x. PMID: 10086674
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Ellonen P, Saarela J, Ranki A, Kere J, Hannula-Jouppi K
J Eur Acad Dermatol Venereol 2021 Sep;35(9):1874-1880. Epub 2021 May 21 doi: 10.1111/jdv.17314. PMID: 33914963
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
Am J Hum Genet 2013 Nov 7;93(5):945-56. Epub 2013 Oct 24 doi: 10.1016/j.ajhg.2013.09.015. PMID: 24207119Free PMC Article
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E
J Am Acad Dermatol 2010 Jan;62(1):107-113. doi: 10.1016/j.jaad.2009.05.016. PMID: 20082890
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
Bergman R, Khamaysi Z, Sprecher E
Am J Dermatopathol 2008 Apr;30(2):101-5. doi: 10.1097/DAD.0b013e3181614898. PMID: 18360110
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM
Arch Dermatol 1996 Jun;132(6):640-51. PMID: 8651714

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