Familial seborrhoeic keratosis associated with multiple 'pure reticulated acanthomas' and infundibulocystic basal cell carcinomas.

BACKGROUND: A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVES: To describe the clinical, dermoscopic and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas (ICBCCs) and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis. In addition, we tested for possible germline alterations in FGFR3 and PTCH1. METHODS: Ten members of one family were clinically examined and 92 skin biopsy specimens were evaluated. Blood samples from six individuals were analysed for FGFR3 and PTCH1 germline alterations. We reviewed the literature concerning genetic FGFR3 alterations in seborrhoeic keratosis. RESULTS: Individuals of all generations affected by familial seborrhoeic keratosis also presented other skin tumours that corresponded histologically to reticulated acanthomas without apocrine or sebaceous differentiation, as well as ICBCCs. In addition, two novel germline variants, p.Pro449Ser (c.1345C>T) in FGFR3 and p.Pro725Ser (c.2173C>T) in exon 14 of PTCH1 were identified in five participants. CONCLUSIONS: We characterize for the first time the clinical, dermoscopic and histopathological features of multiple reticulated acanthomas without apocrine or sebaceous differentiation, for which we propose the term 'pure reticulated acanthoma', and ICBCCs associated with familial seborrhoeic keratosis. We identified FGFR3 and PTCH1 germline polymorphisms whose influence in the development of reticulated acanthomas is unknown.

[Vascular patterns in dermoscopy]. / Vascularización en dermatoscopia.

Under the right conditions, dermoscopy allows us to observe the vascular features of many different types of skin lesions. The visualization and identification of vessels with a characteristic morphology can be the key to diagnosis, especially in hypopigmented lesions in which the typical pigmented structures are not visible. Some of the more characteristic associations are the presence of crown vessels in sebaceous hyperplasia, arborizing telangiectasias in basal cell carcinoma, comma-shaped vessels in intradermal and compound nevi, dotted vessels in Spitz nevi and melanoma, and hairpin vessels in seborrheic keratoses. The recognition of distinctive vascular features can be of great help in the diagnosis of many types of skin lesions, and very often such patterns are the only key to the diagnosis of melanoma.

Alopecia frontal fibrosante y liquen plano pilar: ¿son las estatinas un factor etiopatogénico? / Frontal fibrosing alopecia and lichen planopilaris: are statins a pathogenic factor?

Introducción: La alopecia frontal fibrosante (AFF) se caracteriza por la recesión de la línea frontotemporal del cabello constituyendo una forma poco frecuente de alopecia cicatricial que afecta fundamentalmente a mujeres posmenopáusicas. Actualmente se considera una variante de liquen planopilar (LPP).Objetivo: Determinar la posible asociación estadística entre la toma de estatinas y el desarrollo de AFF/LPP. Material y métodos: Estudio de casos y controles no emparejados llevado a cabo en el Servicio de Dermatología del Hospital Clínico Universitario de Valencia durante un período de 7 años, comprendido entre febrero de 2004 y diciembre de 2010, en el que se incluyeron 20 pacientes diagnosticados de AFF/LPP junto a 22 controles. Resultados: De los 20 casos recogidos, 15 estaban en tratamiento con estatinas, habiendo sido introducidas previamente al desarrollo de la alopecia en 12 de ellos. En 12 pacientes se confirmó el diagnóstico histológicamente. Hemos podido comprobar la estabilización del cuadro al retirar el fármaco. Mediante el análisis estadístico se obtuvo una odds ratio de 2,16 con un intervalo de confianza del 95% (1,58-7,44).Conclusiones: Según los datos de nuestro estudio y teniendo en cuenta sus limitaciones, el tomar una estatina podría multiplicar por dos el riesgo d edesarrollar AFF/LPP, aunque serán necesarios más estudios que apoyen esta hipótesis (AU)

Background: Frontal fibrosing alopecia (FFA) is characterized by the recession of the frontotemporal hair line constituting a rare form of scarring alopecia that predominantly affects postmenopausal women. Is currently considered a variant of lichen planopilaris (LPP).Objective: To determine the possible statistical association between taking statins and the development of FFA/LPP. Material and methods: A case-control study unpaired was undertaken in the Department of Dermatology at Hospital Clínico Universitario in Valencia(Spain) during a period of 7 years between February 2004 and December 2010 and included 20 patients diagnosed with FFA/LPP along with 22controls.Results: Of the 20 cases reported, 15 were on statin therapy, having been introduced prior to the development of alopecia in 12 of them. In 12patients, diagnosis was confirmed histologically. We have seen the stabilization of the disease on drug withdrawal. By statistical analysis was obtained an odds ratio of 2,16 with a confidence interval of 95% (1,58-7,44).Conclusions: According to data from our study and considering its limitations, taking a statin could doubles the risk of developing FFA/LPP, although more studies are needed to support this hypothesi (AU)

Vascularización en dermatoscopia / Vascular Patterns in Dermoscopy

La dermatoscopia permite observar, en las condiciones adecuadas, la vascularización presente en las lesiones cutáneas de muy diversa índole. La visualización e identificación de vasos de morfología característica puede ser la clave en el diagnóstico de determinadas lesiones, especialmente en el caso de aquellas hipopigmentadas, en las que no es posible identificar las estructuras pigmentadas clásicas. Así pues, algunas de las asociaciones más características son la presencia de vasos «en corona» en la hiperplasia sebácea, las «telangiectasias arboriformes» en el carcinoma basocelular, los vasos «en coma» en los nevos intradérmicos y compuestos, los vasos «en cabeza de alfiler» en los nevos de Spitz o melanoma, o los vasos «en horquilla» en las queratosis seborreicas. El reconocimiento de estructuras vasculares distintivas puede ser de gran ayuda para el diagnóstico de numerosas lesiones. A menudo, constituyen la única clave para el diagnóstico del melanoma (AU)

Under the right conditions, dermoscopy allows us to observe the vascular features of many different types of skin lesions. The visualization and identification of vessels with a characteristic morphology can be the key to diagnosis, especially in hypopigmented lesions in which the typical pigmented structures are not visible. Some of the more characteristic associations are the presence of crown vessels in sebaceous hyperplasia, arborizing telangiectasias in basal cell carcinoma, comma-shaped vessels in intradermal and compound nevi, dotted vessels in Spitz nevi and melanoma, and hairpin vessels in seborrheic keratoses. The recognition of distinctive vascular features can be of great help in the diagnosis of many types of skin lesions, and very often such patterns are the only key to the diagnosis of melanoma (AU)