Bazex A, Boulard C, Delsol G, Bazex J, Louvet J L
Ann Dermatol Venereol. 1977 Feb;104(2):103-14.
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.
这种由戈林分离出的疾病实体，其特征为存在皮肤和黏膜神经瘤、类似肢端肥大症的面部畸形以及与马凡氏综合征导致的肢体形态变化相似的症状。这些因素还与西普尔综合征的II型多发性内分泌肿瘤有关。换句话说，由甲状腺“C”细胞以及双侧良性嗜铬细胞瘤（源自APUD系统的肿瘤）发展而来的恶性肿瘤。它被认为具有遗传性，以显性性状遗传。其病程呈三相，预后极差。可能存在不完全或良性形式，在此过程中，内分泌肿瘤可能出现得非常晚或根本不出现。一般来说，诊断很容易。这个疾病实体可与其他源自神经嵴的疾病归为一类，即“神经嵴病”，但尽管与相同胚胎起源的疾病有这些相似之处，这个特定的疾病实体似乎在基因上是独立的。唯一有效的治疗方法是手术，针对甲状腺肿瘤以及发生在肾上腺髓质的肿瘤。需要注意的是，这种治疗方法必须极其谨慎地进行。
