Síndrome de Berardinelli-Seip, un hallazgo dermatológico
نویسندگان
چکیده
El síndrome de Berardinelli-Seip es una enfermedad autosómica recesiva poco frecuente (prevalencia mundial 1/10.000.000 habitantes), que pertenece al grupo los síndromes con lipodistrofia congénita generalizada. Clínicamente, se caracteriza por la pérdida tejido adiposo generalizada, hipertrofia del muscular, crecimiento acelerado durante infancia, pubertad precoz y trastornos lipídicos.Se lo ha clasificado en cuatro variantes distintos genes implicados determinan sus características clínicas específicas.Se comunica un caso clásico Berardinelli-Seip, detectado a partir las manifestaciones dermatológicas, permite realizar adecuado diagnóstico seguimiento multidisciplinario.
منابع مشابه
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ژورنال
عنوان ژورنال: Dermatología argentina
سال: 2022
ISSN: ['1515-8411', '1669-1636']
DOI: https://doi.org/10.47196/da.v28i1.2204