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GENOTYPE – PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
No full textBackground: The p.E318K variant of the microphthalmia-associated transcription factor (MITF) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is not entirely defined. The purpose of our study was to assess the association between the p.E318K germline variant and clinic-phenotypical features of MITF+ compared to non-carriers (MITF-), including dermoscopic findings of melanomas and dysplastic nevi.
Methods: we retrospectively analyzed a consecutive series of 1386 patients recruited between 2000 and 2017 who underwent genetic testing for CDKN2A, CDK4, MC1R and MITF germline variants in our laboratory for diagnostic/research purposes. The patients were probands of melanoma-prone families and apparently sporadic single or multiple primary melanoma patients. For all, we collected clinical, pathological information and dermoscopic images of the histopathologically diagnosed melanomas and dysplastic nevi, when available.
Results: After excluding patients positive for CDKN2A/CDK4 pathogenic variants and those affected by non-cutaneous melanomas, our study cohort comprised 984 cutaneous melanoma patients, 22 MITF+ and 962 MITF-. MITF+ were more likely to develop dysplastic nevi and multiple primary melanomas. Nodular melanoma was more common in MITF+ patients (32% compared to 19% in MITF-). MITF+ patients showed more frequently dysplastic nevi and melanomas with uncommon dermoscopic patterns (unspecific), as opposed to MITF- patients, whose most prevalent pattern was the multicomponent.
Conclusions: MITF+ patients tend to develop melanomas and dysplastic nevi with histopathological features, frequency and dermoscopic patterns often different from those prevalent in MITF- patients. Our results emphasize the importance of melanoma prevention programs for MITF+ patients, including dermatologic surveillance with digital follow-up
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Atypical presentations of pityriasis rosea: a reply
Full text linkPityriasis rosea (PR) may have atypical presentations as regards morphology and distribution of the lesions. Recently, several forms of PR considered atypical for the course of the disease have been described. Differently from the typical PR that resolves within 2-12 weeks, relapsing and persistent PR forms (lasting longer than 12 weeks) have been described in adults and children. Lesions of the oral mucosa in PR may be more common than as reported in the literature. Formerly, the occurrence of oral lesions in PR has been considered more frequent in dark-skinned patients compared to light-skinned patients. However, in 12 Caucasian adult patients with persistent PR that have been recently described, oral lesions were very common (75% of cases). Another study on the clinical features and virological parameters of 31 Caucasian children with PR showed that painless oropharyngeal lesions were present in 35% of them, a rate much higher than those reported in adult dark-skinned (9%) and Caucasian patients (16%) with typical PR
Is there a relationship between environmental factors and pityriasis rosea? Reply to Singh et al
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Can Unilateral Pityriasis Rosea be Considered a Form of Superimposed Lateralized Exanthem?
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