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Medicina & Laboratorio

2021, Number 4

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Medicina & Laboratorio 2021; 25 (4)

Brooke-Spiegler syndrome associated with basal cell carcinoma: case report

Rodríguez-Mendoza J, Ospina-Gómez JP, Valencia-Marín C

Language: Spanish
References: 19
Page: 743-750
PDF size: 338.34 Kb.


ABSTRACT

Brooke-Spiegler syndrome (BSS) is a rare autosomal dominant condition that occurs due to mutations in the CYLD gene, which functions as a tumor suppressor gene. The case of a 50-year-old woman with a history of characteristic trichoep- itheliomas predominantly in the nose, glabella and chin that began at 14 years of age is presented. She reports an increase in the size of the nasal ala lesions for the past 5 years, and the appearance of a new lesion in the nasal tip 2 years ago. When performing a clinical and histological correlation, associated with family history in both the mother and brother, it was concluded that the diagnosis was compatible with multiple familial trichoepithelioma, a special variant of BSS, associated in this case with basal cell carcinoma, that although not a common finding, has been seen to coexist in this disease. The diagnosis of BSS requires a clinical and histological correlation, and a close clinical follow-up must be performed to detect changes in the skin lesions that may indicate malignant transformation.


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