ABSTRACT
La lipomatosis congénita infiltrante de la cara (CLIF) es una enfermedad de origen congénito de baja prevalencia. Sus características clínicas son bien definidas. Éstas generan asimetrías faciales evidentes en los individuos que las padecen, las que pueden observarse clínicamente así como también en radiografías y estudios histopatológicos. El diagnóstico de lipomatosis se hace al nacimiento o a edades muy tempranas y su tratamiento también comienza cuando los pacientes son muy pequeños. Es de gran importancia el trabajo en equipo con cirujanos plásticos, cirujanos maxilofaciales, ortodoncistas, cirujanos dentistas y sicólogos. Este trabajo presenta el caso clínico de una niña chilena con diagnóstico de lipomatosis congénita infiltrante de la cara y el tratamiento que se le ha realizado hasta la fecha.
Congenital infiltrating lipomatosis of the face (CLIF) is a present at birth disease of low prevalence. Its clinical characteristics are well defined. They generate evident facial asymmetries in individuals who suffer from them which can be seen clinically as well as in X-rays or histopathological studies. Diagnosis of lipomatosis is made at birth or at very early stages and its treatment also starts when the patients are very young. It is of great importance the teamwork with plastic surgeons, maxillofacial surgeons, orthodontists, dental surgeons and psychologists. This paper shows the case of a Chilean girl with diagnosis of congenital infiltrating lipomatosis of the face and the treatment that she has received up to date.
Subject(s)
Humans , Child , Face , Facial Asymmetry , Lipomatosis/congenital , Lipomatosis/therapyABSTRACT
Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy with a soft reddish limbal nodule encroaching on the cornea. Dermatological examination showed multiple patches of alopecia, soft papules in the left perioral and periorbital areas, soft masses over the right axilla, trunk and in the lumbosacral region suggestive of lipomas. The CT scan of the brain revealed well-defined, hypodense lesions in both the cerebellar hemispheres suggestive of lipomas. The constellation of these findings led us to a diagnosis of encephalocraniocutaneous lipomatosis.