Hereditary tylosis syndrome and esophagus cancer - SciELO

Anais Brasileiros de Dermatologia

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An. Bras. Dermatol. vol.84 no.5 Rio de Janeiro Sept./Oct. 2009

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Hereditary tylosis syndrome and esophagus cancer

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Camila Alves de Souza I; Allan da Costa SantosII; Lennon da Costa SantosIII; Artur Leonel Carneiro IV

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I General practitioner, Faculdade de Medicina do Vale do Aço – Ipatinga (MG), Brazil II Resident physician of General Surgery, Hospital Vera Cruz/Lifecenter – Belo Horizonte

(MG). Member of the Brazilian Society of Anatomy. Assistant Professor of Human Anatomy, Faculdade de Medicina da Unincor – Belo Horizonte (MG), Brazil III Undergraduate, Medical School, Faculdade de Medicina, Universidade Federal de Minas

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Gerais (UFMG) – Belo Horizonte (MG), Brazil

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IVPreceptor of residence in general surgery, Hospital Vera Cruz/Lifecenter – Belo Horizonte


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Tylosis palmoplantaris is an autosomal dominant disorder characterized by hyperkeratosis of palms and soles. Lesions start during childhood and are more evident in areas of pressure. Familial tylosis palmoplantaris comprises two forms: epidermolytic and nonepidermolytic. Patients with the epidermolytic variant have up to 40% higher chance of developing squamous cell carcinoma of the esophagus. The association of tylosis palmoplantaris with esophageal cancer is called Howel-Evans syndrome. Keywords: Carcinoma, squamous cell; Esophageal neoplasms; Hyperkeratosis, epidermolytic; Keratoderma, palmoplantar, diffuse

INTRODUCTION Tylosis palmoplantaris is an autosomal dominant disorder 1 characterized by well-limited palmoplantar hyperkeratosis. It happens sporadically in 0.30% to 0.55% of the population, affecting patients of different age ranges. Family incidence is high in the hereditary form and penetrance may range up to 100%. In general, it develops in the second childhood and is accentuated in pressure areas. There are two familial forms of tylosis palmoplantaris: non-epidermolytic and epidermolytic forms. The non-epidermolytic form shows autosomal dominant inherited pattern with hyper-hydrosis frequently present, whose genetic defect is found in chromosome 12q11-q13, region that contains keratinocytes type II. The epidermolytic form presents genetic abnormalities referring to keratinocytes type I.2,3 Patients with epidermolytic tylosis palmoplantaris present up to 40% higher likelihood of developing squamous cell carcinoma of the esophagus. The association between tylosis palmoplantaris and esophageal neoplasm is named Howel-Evans syndrome 4 . These patients present abnormalities in chromosome 17q25 in addition to other specific abnormalities in microsatellites. Acquired hyperkeratosis is rarely related with the development of neoplasm.5,6

CASE REPORT History: P. G. B., 29-year-old patient, female, married, housewife, came to the outpatient clinic at Faculdade de Medicina do Vale do Aço complaining of dysphagia and long-term dyspepsia. She reported use of cimetidine 200 mg (BID) for one year without effective improvement. She also reported thickening of plantar region since childhood, with pain and desquamation.(Figure 1 and 2)

Family history: Her mother had died at the age of 37 years with esophagus neoplasm, presented palmoplantar hyperkeratosis. Sister and two nephews showed palmoplantar hyperkeratosis. The daughter GGB aged 8 years, presented hyperkeratosis and was with her mother in the medical visit.(Figure 3)

Shedid not report smoking, alcohol abuse and use of medication on the visit day. Thepatient was colored, hydrated, anicteric, acyanotic and in good general status. At ectoscopy, we observed well-delimited palmoplantar hyperkeratosis associated with fissures.(Figure 1 and 2) Normal heart beating, two strokes, no murmurs. Blood pressure 130 x 80 mmHg; respiratory system: vesicular physiological murmur, no adventitial noise. Globous abdomen, no retractions or masses, painful upon deep palpation of epigastrium. Thepatient underwent upper digestive endoscopy that revealed exophytic lesion on the mid-third of the esophagus of approximately 1.0cm (Figure 4). A biopsy of the lesion was performed and evidenced squamous cell carcinoma of the esophagus. Clinical staging was carried out using chest, abdomen and pelvic CT scan, which did not show distant lesions. The patient underwent total esophagectomy + regional lymphadenectomy (Figure 5). She is currently well and has no manifestations of the disease and has been followed up in the oncology clinic. The other members of the family that also have tylosis are been followed up by the department of gastroenterology and dermatology.

DISCUSSION Even though it is a syndrome of low incidence, hyperkeratosis or tylosis palmoplantaris is widely related with the onset of squamous cell carcinoma of the esophagus. Such correlation receives the name Howel-Evans and has a family penetrance close to 100%. Currently, it is advocated that there is a X-linked inheritance of the disease. Patients may be followed up to track down and detect early the esophageal abnormalities.

REFERENCES 1. Shahabi M, Noori Daloii MR, Langan JE, Rowbottom L, Jahanzad E, et al. An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma. Int J Oncol. 2004;25:389-95 [ Links ] 2. Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, et al. Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesoplaghageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet. 2004;114:534-40 [ Links ] 3. Richardson ES, Lee JB, Hyde PH, Richard G. 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. J Invest Dermatol. 2006;126:79-84 [ Links ] 4. Iwaya T, Maesawa C, Kimura T, Ogasawara S, Ikeda K, Kimura Y, et al. Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas. Oncol Rep. 2005;13:703-7 [ Links ] 5. Robertson EV, Jankowski JA. Genetics of gastroesophageal cancer: paradigms, paradoxes, and prognostic utility. Am J Gastroenterol. 2008;103:443-9 [ Links ] 6. Patel S, Zirwas M, English JC. Acquired palmoplantar keratoderma. Am J Clin Dermatol. 2007;8:1-11 [ Links ] Mailing Address: Camila Alves de Souza Rua Dom Pedro II, 285 Centro 35010 090 Gov. Valadares MG. E-mail: [email protected] Conflict of interest: None Financial funding: None How to cite this article: Souza CA, Santos AC, Santos LC, Carneiro AL. Síndrome tilose hereditária e câncer de esôfago. An Bras Dermatol. 2009;84(5):527-9.

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Hereditary tylosis syndrome and esophagus cancer - SciELO

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