Letter: Tylosis, leukoplakia, and oesophageal carcinoma.

Tyldesley, W.R.; Hughes, Richard G.M.

doi:10.1136/bmj.4.5889.427

Cited by 18 publications

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“…Its association with esophageal strictures, 2 squamous cell carcinoma of the skin, 3 carcinoma of the stomach and the larynx, 4 and oral leukoplakia 5 was described later by others. Nonfamilial or acquired forms of PPK may also be associated with malignancy, such as cancer of the esophagus, lung, breast, urinary tract, and stomach 6–9 .…”

Section: Discussionmentioning

confidence: 89%

Lung carcinoma with congenital plantar keratoderma as a variant of Clarke‐Howel‐Evans syndrome

et al. 2003

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A 32‐year‐old man was admitted to the Magdeburg University Hospital with icterus and for further diagnosis of suspected hepatitis. He also complained of generalized pruritus, abdominal pain, nausea, and diarrhea. The patient's history revealed the excision of a lymph node metastasis of the left groin showing pleomorphic macrocellular infiltrates, 2 months previously. The patient presented to our department with prominent hyperkeratosis of both feet, which had been present since early youth. The family history was negative. Both soles showed very thick, white and blackish hyperkeratosis with predominance of the heels and the forefeet (Fig. 1). The naturally occurring wrinkles of the skin of the toes were flattened. The palms were not affected, and neither was the oral mucosa. Further investigations revealed icterus of the sclera and multiple, firm tumors, which were located in the deep subcutaneous tissue, on the left hip, thigh, and buttock. From thorough clinical, laboratory and staging investigations, a non‐small‐cell bronchogenic carcinoma, with metastases of the liver, kidneys, adrenal glands, and several skin sites, was diagnosed. 1 Plantar surface of the feet showing very thick, white and blackish hyperkeratosis with predominance of the heels and the forefeet A skin biopsy specimen of the foot showed substantial acanthosis of the epidermis with hypergranulosis and excessive orthohyperkeratosis. The corneocytes were enlarged and arranged in a tile‐like pattern (Fig. 2). The dermis was free of inflammatory infiltrates and human papillomavirus infection was ruled out by immunohistochemistry. 2 Dermatohistopathology revealing massive acanthosis of the epidermis with hypergranulosis, substantial orthohyperkeratosis, and a tile‐like pattern of the stratum corneum (hematoxylin and eosin, × 200) Polychemotherapy was immediately started with 5‐fluorouracil, mitomycin, and cisplatin, which was well tolerated. When the patient was admitted for the second cycle, however, his general health had worsened markedly. He complained of abdominal pain, severe weight loss, and nausea. Generalized metastases showed substantial progression. Chemotherapy could not be continued because of a Karnowsky index below 20%. The patient died 2 weeks later.

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Section: Discussionmentioning

confidence: 89%

Lung carcinoma with congenital plantar keratoderma as a variant of Clarke‐Howel‐Evans syndrome

et al. 2003

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“…Weitere assoziierte Symptome 1. Orale Leukoplakien: Tyldesly machte erstmals in der Liverpooler Familie auf das Vorkommen von oralen Leukoplakien aufmerksam [34,35], die nur bei von Tylosis betroffenen Familienmitgliedern vorkommen. Gleichartige Veränderungen wurden auch von anderen Autoren beobachtet [11,17,28].…”

Section: Stammbaum Der Familie Und Ergebnisse Der Klinischen Nachunteunclassified

“…

Beobachtungen in einer Familie über fünf Generationen leukoplakieartige Schleimhautverände-rungen der oralen Mukosa beobachtet werden können [34,35].Das nach den Erstbeschreibern benannte Clarke-Howel-Evans-McConnellSyndrom ist außerordentlich selten und konnte bisher neben der mittlerweile über sechs Generationen gut dokumentierten Großfamilie aus Liverpool [7] in nur wenigen anderen Sippen beobachtet werden [6,13,21,23,27,28,31,37]. 1982 wurden von uns 2 weitere Familien mit Clarke-Howel-Evans-McConnell-Syndrom vorgestellt, die vermutlich weitläufig miteinander verwandt sind [11].

Das klinische Bild der Tylosis in den von uns beschriebenen Familien zeichnet sich durch schwielenartige Keratosen aus, die in erster Linie fokal an mechanisch belasteten Arealen der Fußsoh-len und Handflächen auftreten.

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Das Clarke-Howel-Evans-McConnell-Syndrom

Simón

Hagedorn

1997

Der Hautarzt

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The Clarke-Howel-Evans-McConnell syndrome is a rare hereditary disease characterized by palmoplantar keratoses, squamous cell carcinoma of the esophagus and oral leukoplakia. According to a new classification recently proposed by Stevens and colleagues, the syndrome can also be classified as palmoplantar ectodermal dysplasia type III. We report a family from the Black Forest region of Germany afflicted with the syndrome. The family was traced through five generation. 27 of 46 family members showed tylotic skin changes. In addition, 8 patients showed oral leukoplakia and 5 died from squamous cell carcinoma of the esophagus. Using screening examinations, early changes of the esophageal mucosa could be detected. The responsible gene has been mapped in the family. It is located at 17q23-qter, telomeric to the keratin II gene cluster. Therefore a defect in one of the well known keratin genes can be excluded as a cause of the syndrome.

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“…The presence of abnormalities of the oral mucous membrane in tbe affected members of these families has been briefly noted (Tyldesley & Osborne Hughes 1973). The purpose of the present communication is to detail the clinical and pathological features observed in these patients.…”

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confidence: 89%

Oral leukoplakia associated with tylosis and esophageal carcinoma

Tyldesley

1974

J Oral Pathology Medicine

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The association between tylosis (palmoplantar keratoderina) and esophageal carcinotna in a gi-oup of related patients has been previously established and has been shown to depend on dotninant genetic transtnission. Sixteen out of seventeen such affected patients have been found to exhibit lesions of the oral mucosa classified as pre-leukoplakia in the younger subjects and as leukoplakia in the older patients. The histology of the pre-leukoplakias examined resembles in some features that of several developmental oi-al epithelial disorders. The histological appearance of the leukoplakias examined was of benign keratosis with no special features. No similar lesions were found in small control groups of unaffected siblings of the subjects involved or in unrelated tylotic patients. Il is suggested that the oral leukoplakia associated with tylosis should be considered as a possible indication of a tendency to develop esophageal carcinoma.

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Letter: Tylosis, leukoplakia, and oesophageal carcinoma.

Cited by 18 publications

References 1 publication

Lung carcinoma with congenital plantar keratoderma as a variant of Clarke‐Howel‐Evans syndrome

Lung carcinoma with congenital plantar keratoderma as a variant of Clarke‐Howel‐Evans syndrome

Das Clarke-Howel-Evans-McConnell-Syndrom

Oral leukoplakia associated with tylosis and esophageal carcinoma

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