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      Tricoepitelioma múltiple familiar. Reporte de un caso Translated title: Multiple family trichoepithelioma. Case study

      case-report

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          Abstract

          RESUMEN El tricoepitelioma es un tumor benigno poco frecuente que se origina en el folículo piloso, puede ser único o múltiple, siendo la forma múltiple de presentación esporádica o familiar. El tricoepitelioma múltiple familiar se inicia durante la adolescencia y se presenta como neoformaciones múltiples progresivas, confluentes y deformantes sobre el rostro, suelen desencadenar trastornos ansiosos en los jóvenes afectados. El diagnóstico se realiza mediante historia clínica y examen físico, el abordaje siempre debe ser médico quirúrgico. Se informa el caso de una joven portadora de tricoepitelioma múltiple familiar que se trató de forma conjunta con el servicio de psiquiatría.

          Translated abstract

          ABSTRACT Trichoepithelioma is a rare benign tumour originating from the hair follicle. It can take a single or multiple form. The multiple form has a sporadic or family presentation. Multiple family trichoepithelioma appears during adolescence and presents as gradual multiple neoformations that are confluent and deforming on the face, which could trigger anxiety disorders in the young people affected. Diagnosis is by medical history and physical examination and the strategy must always be both medical and surgical. We report the case of a teenage girl diagnosed with familial multiple trichoepithelioma treated together with the psychiatry service.

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          Topical use of mammalian target of rapamycin inhibitors in dermatology: A systematic review with meta-analysis

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            Trichoepithelioma: A Comprehensive Review.

            Trichoepithelioma is an uncommon benign adnexal neoplasm. It can present as a solitary non-familial or multiple familial form. Trichoepithelioma usually develops in early childhood or puberty. Females are more affected. It is attributed to two genetic mutations on chromosomes 9p21 and 16q12-q13. Multiple familial trichoepithelioma is an autosomal-dominant disorder, characterized by numerous nodules and papules, predominantly on the face and occasionally on the scalp, neck, or upper trunk, positive family history, and histopathological findings. The lesions gradually increase in both size and number over time; however, they remain mostly asymptomatic. Although it is rare, trichoepithelioma lesions can undergo malignant transformation to trichoblastic carcinoma or basal cell carcinoma. Patients mainly seek treatment because the lesions are usually disfiguring and can lead to psycho-social issues. Non-pharmacologic approaches (e.g., excisional surgery, laser resurfacing), as the current mainstay of management, suffer from several drawbacks. New treatment techniques such as pharmacotherapy with potentially effective agents deserve more attention and investigation.
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              Trichoepithelioma: A Rare but Crucial Dermatologic Issue

              Trichoepithelioma is a rare benign skin lesion that originates from hair follicles. Trichoepitheliomas are mostly seen in the scalp, nose, forehead, and upper lip. We present a large family of Iranian origin with 15 individuals affected with multiple familial trichoepithelioma in four generations, and treated with three different methods. Trichoepithelioma is histologically similar to basal cell carcinoma and has a rare risk of malignant transformation. In addition, most frequent incidence of this disease in young to elderly women may lead to social and psychological issues. Precise diagnosis and management of this rare disease seem necessary.
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                Author and article information

                Journal
                albacete
                Revista Clínica de Medicina de Familia
                Rev Clin Med Fam
                Sociedad Española de Medicina de Familia y Comunitaria (Barcelona, Cataluña, Spain )
                1699-695X
                2386-8201
                2021
                : 14
                : 2
                : 103-105
                Affiliations
                [2] San Ramón de Alajuela orgnameHospital Carlos Luis Valverde Vega Costa Rica
                [1] San Ramón de Alajuela orgnameHospital Carlos Luis Valverde Vega Costa Rica
                Article
                S1699-695X2021000200012 S1699-695X(21)01400200012
                42a14e97-b26f-4f09-af0b-b6fa665da999

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                : 06 March 2020
                : 22 June 2020
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 3
                Product

                SciELO Spain

                Categories
                Un paciente con...

                tricoepitelioma múltiple familiar,Multiple Family Trichoepithelioma,Differential Diagnosis,CYLD Gene,Cutaneous Tumour,gen CYLD,diagnóstico diferencial,tumor cutáneo

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