Síndrome de Berardinelli-Seip, un hallazgo dermatológico

Juan Carlos Marcillo Pantoja; Diego Martín Loriente; Sandra Miriam  García; Patricia Silvia  Della Giovanna

doi:10.47196/da.v28i1.2204

Authors

Juan Carlos Marcillo Pantoja Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina.
Diego Martín Loriente Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina
Sandra Miriam García Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina
Patricia Silvia Della Giovanna Department of Dermatology, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina

DOI:

https://doi.org/10.47196/da.v28i1.2204

Keywords:

Berardinelli-Seip, generalized lipodystrophy, eruptive xanthomas, dyslipidemia

Abstract

Berardinelli-Seip syndrome is a rare autosomal recessive disease (worldwide prevalence of 1/10,000,000 inhabitants) belonging to the group of syndromes with generalized congenital lipodystrophy. Clinically, it is characterized by generalized loss of adipose tissue, muscle tissue hypertrophy, accelerated growth during childhood, precocious puberty, and lipid disorders.
It has been classified into four variants with different genes involved that determine specific clinical characteristics.
We report a classic case of Berardinelli-Seip syndrome, detected from dermatological manifestations, which allows an adequate diagnosis and multidisciplinary follow-up.

Author Biographies

Juan Carlos Marcillo Pantoja, Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina.

Third Year Resident

Diego Martín Loriente, Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina

Staff Doctor

Sandra Miriam García, Dermatology Department, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina

Staff Doctor, Anatomic Pathologist

Patricia Silvia Della Giovanna, Department of Dermatology, Prof. Alejandro Posadas National Hospital, Province of Buenos Aires, Argentina

Chief of Service

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