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BACKGROUND Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN. AIM To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. METHODS Patients with SN diagnosed between 1995 and 2015 were enrolled in the study. The diagnosis of MT-LS was made according to established clinical criteria and, whenever possible, was confirmed by germline mutation analysis. RESULTS In 60 patients (32 men, 28 women, mean age 69.22 years), 96 SN were diagnosed: 65 adenomas (67.7%), 16 sebaceomas (16.7%) and 15 carcinomas (15.6%). Of the 60 patients, 50 (83.3%) had a single SN and 10 (16.7%) had multiple lesions. Patients diagnosed with MT-LS (12 patients, 20%) were younger (63.25 years vs. 70.71 years), and had a higher incidence of extrafacial SN (4/12 patients, 33.3%), and were significantly (P

La neurofibromatosis (NF) segmentaria es una entidad poco frecuente que se caracteriza por la presencia de manchas café con leche y neurofibromas, o solamente neurofibromas, distribuidos en un dermatoma o, menos frecuentemente, en 2 o más dermatomas1,2. Una mujer de 55 a nos, sin antecedentes personales ni familiares de interés, consultó en dermatología por unas lesiones de 10 a nos de evolución consistentes en diversas pápulas y nódulos del color de la piel normal, de 3-15 mm de diámetro y tacto elástico, localizadas únicamente en la región distal de las piernas y los pies. No presentaba manchas café con leche, efélides axilares ni ninguna lesión de neurofibroma plexiforme. Se realizó una exéresis de 2 de las lesiones y el estudio histopatológico confirmó la sospecha clínica de neurofibromas (fig. 3), con lo que se diagnosticó a la paciente de NF segmentaria bilateral. Se descartó la afectación ocular, neurológica y visceral. Se han realizado controles clínicos, Pápulas y nódulos color piel normal en la cara anterior de piernas y pies compatibles con neurofibromas. durante 10 a nos sin la aparición de nuevas lesiones en otras zonas del cuerpo.

Subungual melanoma constitutes a diagnostic challenge because it often has an atypical clinical presentation. The aims of this study were to revise the clinical and pathologic characteristics of patients with subungual melanoma diagnosed at a tertiary care university hospital and analyze the factors potentially associated with a delayed diagnosis.We analyzed data for 34 patients diagnosed with subungual melanoma at our hospital over a period of 20 years.The study population comprised 18 women and 16 men with a median age at diagnosis of 66 years. Only 5 of the patients had longitudinal melanonychia when examined at the dermatology department. At the time of diagnosis, 19 of the 34 patients had invasive melanoma (median Breslow thickness, 3.70mm); 16 had ulceration and 8 had regional lymph node involvement. Five patients had subungual melanoma in situ at diagnosis. The median time from appearance of the lesions to consultation at a primary care center was 15 months; the corresponding time from primary care consultation to diagnosis at our hospital was 5.5 months. Lesions located on the toes were more likely to be ulcerated (P=.017) and to be accompanied by regional lymph node involvement at diagnosis (P=.012).The factors associated with a longer diagnostic delay in patients with subungual melanoma were absence of melanonychia as a presenting feature and involvement of the toes.

Background: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas. Several reports suggest that the incidence of basal cell carcinoma is increased in DM1. However, two recently published studies examining this topic have contradictory results. Objective: To retrospectively study the incidence of cutaneous tumours in patients with DM1. Methods: The clinical features of 102 Caucasian patients diagnosed with DM1 at Bellvitge Hospital in Barcelona, Spain, were retrospectively analysed. Clinical charts of the patients were reviewed, and cutaneous tumours diagnosed in our hospital were recorded. A group of 103 Caucasian patients matched for age and sex were used as the control group. Results: A total of 56 male and 46 female patients with DM1 were included in the study (mean age 49.07 years, SD 13.02). At least 1 basal cell carcinoma was diagnosed in 6 patients in the DM1 group versus 3 patients in the control group (p = 0.332). The mean age at diagnosis of the first basal cell carcinoma was 51 years compared with 66 years in the control group (p = 0.035). Five patients with DM1 presented pilomatrixomas versus none in the control group (p = 0.029). We did not detect any melanoma in our DM1 patients. Conclusion: Basal cell carcinomas appeared at a significantly younger age in our DM1 patients than in the general population, and this suggests that, at least in some patients, DM1 may predispose to the development of basal cell carcinomas.

Background: The most frequent skin features associated with myotonic dystrophy type 1 (DM1) are frontal alopecia and pilomatrixomas. Several reports suggest that the incidence of basal cell carcinoma is increased in DM1. However, two recently published studies examining this topic have contradictory results. Objective: To retrospectively study the incidence of cutaneous tumours in patients with DM1. Methods: The clinical features of 102 Caucasian patients diagnosed with DM1 at Bellvitge Hospital in Barcelona, Spain, were retrospectively analysed. Clinical charts of the patients were reviewed, and cutaneous tumours diagnosed in our hospital were recorded. A group of 103 Caucasian patients matched for age and sex were used as the control group. Results: A total of 56 male and 46 female patients with DM1 were included in the study (mean age 49.07 years, SD 13.02). At least 1 basal cell carcinoma was diagnosed in 6 patients in the DM1 group versus 3 patients in the control group (p = 0.332). The mean age at diagnosis of the first basal cell carcinoma was 51 years compared with 66 years in the control group (p = 0.035). Five patients with DM1 presented pilomatrixomas versus none in the control group (p = 0.029). We did not detect any melanoma in our DM1 patients. Conclusion: Basal cell carcinomas appeared at a significantly younger age in our DM1 patients than in the general population, and this suggests that, at least in some patients, DM1 may predispose to the development of basal cell carcinomas.