Coleman R, Hay R J
St John's Institute of Dermatology, Guy's Hospital, London, UK.
Br J Dermatol. 1997 Jan;136(1):24-9.
Chronic mucocutaneous candidosis (CMC) is a rare, complex disorder characterized by chronic and recurrent candida infections of the skin, nails and oropharynx. In over 50% of cases there is an associated endocrine disease, the complex being described as the candida endocrinopathy syndrome. Inheritance of familial endocrine associated cases has been thought to follow an autosomal recessive pattern. In addition, autosomal recessive and autosomal dominant forms of CMC not associated with endocrinopathy have been described. We report a new syndrome in which there is vertical transmission of CMC within families associated with primary hypothyroidism. This suggests that the candida endocrinopathy syndrome can be subdivided into at least two types, one associated with hypoparathyroidism and/or hypoadrenalism which is inherited as an autosomal recessive trait, the other associated with hypothyroidism which is an autosomal dominant disease. We emphasize the importance of early and regular monitoring thyroid function in individuals with CMC and a need to provide appropriate genetic counselling to affected members.
慢性黏膜皮肤念珠菌病（CMC）是一种罕见的复杂疾病，其特征为皮肤、指甲和口咽的慢性复发性念珠菌感染。超过50%的病例伴有内分泌疾病，这种综合征被称为念珠菌内分泌病综合征。家族性内分泌相关病例的遗传被认为遵循常染色体隐性模式。此外，还描述了与内分泌病无关的常染色体隐性和常染色体显性形式的CMC。我们报告了一种新的综合征，其中CMC在家族中呈垂直传播，并伴有原发性甲状腺功能减退。这表明念珠菌内分泌病综合征可至少分为两种类型，一种与甲状旁腺功能减退和/或肾上腺功能减退相关，呈常染色体隐性遗传；另一种与甲状腺功能减退相关，是一种常染色体显性疾病。我们强调对CMC患者进行早期和定期甲状腺功能监测的重要性，以及为受影响成员提供适当遗传咨询的必要性。
