RESUMEN
INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare disorder, most often of genetic origin. CASE REPORT: The authors present the case of two siblings, 10 and 13 years old, both followed-up since the age of 2 for CIPA diagnosed after discovering insensitivity to pain during iterative falls, burns, and of severe oro-digital self-mutilating behavior. Sural nerve biopsy and an electromyogram confirmed the diagnosis. DISCUSSION: CIPA with anhidrosis is a very rare disease. It is characterized by unexplained fever episodes, anhidrosis, pain insensitivity, self-mutilating behavior, and sometimes mental retardation. Complications of this insensitivity (non-treated fractures, burns, and oro-digital mutilation) may be lethal. Treatment remains preventive. The patient must observe a very strict hygiene. Prevention for maxillofacial involvement consists in breaking the cycle of oral self-mutilation.
Asunto(s)
Insensibilidad Congénita al Dolor/diagnóstico , Insensibilidad Congénita al Dolor/terapia , Adolescente , Niño , Consejo Dirigido , Femenino , Humanos , Hipohidrosis/complicaciones , Hipohidrosis/diagnóstico , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/diagnóstico , Masculino , Insensibilidad Congénita al Dolor/complicaciones , Automutilación/complicaciones , Automutilación/prevención & control , Hermanos , Enfermedades Estomatognáticas/complicaciones , Enfermedades Estomatognáticas/diagnósticoRESUMEN
INTRODUCTION: Primary leiomyosarcoma of the parotid gland is an extremely rare neoplasm, develops from smooth muscle cells. Its primary origin in the face and especially in the salivary glands is even more rare. CASE REPORT: A 15-year-old boy, with no prior history was hospitalized for swelling in the left parotid area having appeared 5 months before. The mass was painless and there was no facial paralysis. CT scan showed a tumoral process of mixed density in the left parotid gland. Thoracoabdominal CT scan was normal. Conservative parotidectomy was performed. The histological diagnosis was primary leiomyosarcoma of the parotid gland. DISCUSSION: Five per cent of salivary gland primitive tumors are of mesenchymatous origin, of which 0.3 to 1.5% are sarcoma. The diagnosis of leiomyosarcoma of the parotid gland is confirmed by histological and immunohistochemical assessment. Surgery sometimes combined to radiochemotherapy seems to be the treatment of choice.
