Malignant melanoma in xeroderma pigmentosum patients: report of five cases

• Published in: European journal of surgical oncology Vol. 23; no. 1; pp. 43 - 47
• Main Authors: Kocabalkan, Oya, Özgür, Figen, Erk, Yücel, Gürsu, K. Güler, Güngen, Yücel
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Amsterdam Elsevier Ltd 01.02.1997; Elsevier
• Subjects: Adult; Biological and medical sciences; Cell Transformation, Neoplastic; Child; Dermatology; Disease-Free Survival; genetic disease; Humans; Male; malignant melanoma; Medical sciences; Melanoma - etiology; Melanoma - genetics; Melanoma - pathology; Pedigree; Pigmentary diseases of the skin; Skin Diseases - complications; Skin Diseases - pathology; Skin Neoplasms - etiology; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Tumors of the skin and soft tissue. Premalignant lesions; xeroderma pigmentosum; Xeroderma Pigmentosum - complications; Xeroderma Pigmentosum - pathology; xeroderma pigmentosum; genetic disease; malignant melanoma; Human; Photosensitivity; Skin disease; Pigmentation disorder; Xeroderma pigmentosum; Malignant tumor; Medical screening; Epidemiology; Genetic disease; Case study; Photodermatosis; Concomitant disease; Malignant melanoma; Recessive character
• ISSN: 0748-7983; 1532-2157
• DOI: 10.1016/S0748-7983(97)80141-2

Xeroderma pigmentosum is a rare genetic disease transmitted via a recessive gene with an altered reaction of the epidermis to light. Fifty per cent of patients develop a skin tumour by 8 years of age. The majority of patients may have multiple tumours, but metastasis is rare. In the last 25 years we have treated 24 xeroderma pigmentosum patients in our clinic. Only five patients had developed cutaneous malignant melanoma during their follow-up. Three of the patients were from the same family, melanoma occurring in three of five affected individuals. All xeroderma pigmentosum patients with malignant melanoma had received classical treatment modalities. Except one case of fulminant pattern, all four patients had long disease-free survival. Although early detection and treatment of these cutaneous malignancies will reduce morbidity and mortality, genetic counselling remains the most important protective measure for xeroderma pigmentosum.