[Hereditary Sipple syndrome (author's transl)].
This entity, isolated by Gorlin, is characterized by the presence of cutaneous and mucous neuromas, facial disfiguration resembling acromegalia as well as morphological changes to the extremities similar to those produced by Marfan's disease. These factors are also associated with multiple endocrinological neoplasms type II of Sipple's syndrome. In other words, malignant tumors developing from thyroid "C" cells as well as from bilateral benign pheochromocytoma (neoplasias which derive from the A.P.U.D. system). It is considered to be hereditary in nature and transmitted as a dominant trait. Its evolution is triphasic, and the prognosis is extremely dismal. There may exist incomplete or benign forms, in the course of which the endocrinological neoplasms may appear very late or not at all. Generally, the diagnosis is easy. This entity can be calssified with other diseases stemming from the neural ridge, in other words "neurocristopathies" but in spite of these similarities with disease of the same embryological origin, it would seem that this particular entity is genetically autonomous. The only effective treatment is surgical, for thyroid neoplasms, as well as neoplasms occurring in the medullo-adrenal glands. It should be noted that this line of treatment must be undertaken with the utmost precaution.
D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007830:Larynx / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009092:Mucous Membrane / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D009463:Neuroma / Q000150:complications* / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000150:complications* / Q000473:pathology; D010673:Pheochromocytoma / Q000150:complications* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications* / Q000235:genetics / Q000473:pathology; D013964:Thyroid Neoplasms / Q000150:complications* / Q000473:pathology
Syndrome de Sipple héréditaire.