Melanocortin 1 receptor variants and their association with phenotypic characteristics and sporadic multiple primary melanomas in a cohort of 402 Spanish subjects.

The melanocortin 1 receptor (MC1R) gene is considered to be a major determinant of the risk of melanoma. The role of MC1R polymorphisms as predisposing factors for the development of a second primary melanoma is not well established. The present study analyses the characteristics from subjects with certain MC1R variants without any other genetic predisposition, as well as the risk of second primary melanoma associated with these variants. We performed a prospective longitudinal single-centre study based on follow-up information of 402 patients diagnosed with cutaneous melanoma. MC1R gene was sequenced in all subjects. High-risk variants were defined as those previously associated with melanoma (V60L, V92M, I155T, R160W, R163Q and D294H). 253 (63%) patients had at least one predisposing variant. These individuals had higher proportion of red/blonde hair, multiple primary melanomas and first melanoma diagnosis under the age of 60. Second primary melanomas were detected in 28 (3.8%) subjects. Having more than 25 melanocytic nevi was associated significantly to the development of second primary melanomas. A higher proportion of individuals carrying at least one predisposing MC1R variant develop a second melanoma, although statistical significance was not reached. Therefore, some MC1R polymorphisms might determine clinical and histological differences between patients with cutaneous melanoma and may represent a risk factor for second primary melanoma, although more studies are needed.

Human monkeypox virus in a tertiary hospital in Madrid, Spain: An observational study of the clinical and epidemiological characteristics of 53 cases.

A new outbreak of monkeypox virus (MPXV) infection, a zoonotic infection endemic in Central and West Africa, is spreading throughout the world with new epidemiology and clinical features. Our aim was to characterize patients presenting to Dermatology emergency room with a MPXV infection between 15 May and 30 June 2022 in a tertiary hospital in Madrid, Spain. We collected 53 patients and describe their clinical, demographic and epidemiological characteristics and followed their evolution. Most of the patients were men who had sex with men with high-risk sexual practices and no recent travels abroad. Most of them (91%) had had a sexually transmitted infection before. All patients had typical skin lesions consisting of vesicular-pustular rash with central umbilication which was localized or disseminated. The most frequent extracutaneous symptoms were fever, painful regional lymphadenopathy and asthenia. Proctitis was present in more than one third of patients. All patients were diagnosed by real time polymerase chain reaction of samples obtained from skin lesions. Pharyngeal and/or rectal exudates demonstrated MPXV in 74% of patients. The current worldwide outbreak of MPXV infections shows epidemiological and clinical differences from previous ones. Clinicians should be aware of these characteristics to correctly diagnose this emerging disease.

Who Will Have a Second Melanoma? A Prospective Longitudinal Study in Patients without Any Genetic Predisposition.

BACKGROUND: Melanoma patients have a higher risk of developing additional melanomas. Predisposing factors of a second primary melanoma in patients without any genetic predisposition are not well established. OBJECTIVES: The aim of this study was to identify risk factors related to the development of a second primary melanoma in order to know which patients should be followed up closely. METHODS: A longitudinal study was performed at Hospital Gregorio Marañón (Madrid, Spain), based on follow-up data of patients diagnosed with cutaneous melanoma from 1998 to 2020. RESULTS: After a median follow-up of 82 months, 58 out of 1523 (3.8%) patients developed a second melanoma. In 11 patients (19%), a second melanoma was diagnosed more than 10 years after their first melanoma. Second melanomas more commonly had a lower mean tumour thickness than the first ones, but 8 out of 58 (13.8%) had a higher tumour thickness than their first melanoma. Skin phototype I-II, having more than 50 melanocytic nevi, and recurrent sunburns were associated with the development of a second melanoma. In multivariate analysis, skin phototype I-II (odds ratio [OR] = 5.41; p < 0.001) and a higher number of nevi (OR = 3.44; p < 0.001) remained as independent risk factors for the development of a second melanoma. CONCLUSIONS: Patients with fair skin phototype and more than 50 melanocytic nevi are at increased risk of developing a second primary melanoma and should be closely monitored throughout their lives to detect earlier additional melanomas.