The main high-penetrance melanoma susceptibility gene is CDKN2A, encoding p16INK4A and p14ARF. The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. To date, the prevalence of MITF p.E318K and its clinical and phenotypical implications has not been previously assessed in a single cohort of Spanish patients with melanoma or in p16INK4A mutation carriers. OBJECTIVES To evaluate the prevalence of MITF p.E318K in Spanish patients with melanoma and assess the association with clinical and phenotypic features. DESIGN, SETTING, AND PARTICIPANTS A hospital-based, case-control study was conducted at the Melanoma Unit of Hospital Clinic of Barcelona, with MITF p.E318K genotyped in all patients using TaqMan probes. We included 531 patients: 271 patients with multiple primary melanoma (MPM) without mutations affecting p16INK4A (wild-type p16INK4A); 191 probands from melanoma-prone families with a single melanoma diagnosis and without mutations affecting p16INK4A, and 69 probands from different families carrying CDKN2A mutations affecting p16INK4A. A population-based series of 499 age-and sex-matched cancer-free individuals from the Spanish National Bank of DNA were included as controls.

Dermoscopy is useful in improving the diagnosis of lymphangioma circumscriptum with characteristic structures and patterns and could assist in elucidating the presence of blood in lymphatic channels.

The severity of SDB was independently associated with greater aggressiveness of cutaneous melanoma, particularly among younger patients.

Benign adnexal tumours associated with naevus sebaceous are dermoscopic mimickers of basal cell carcinomas. A pigmented nodule arising in a naevus sebaceous with a total blue large ovoid nest on dermoscopy could be a trichoblastoma, basal cell carcinoma, hidrocystoma or hidradenoma. Dermoscopy can be a useful diagnostic tool which generates a more accurate preoperative diagnosis.

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