Hanssen A M, Fryns J P
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
J Med Genet. 1995 Feb;32(2):117-9. doi: 10.1136/jmg.32.2.117.
Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in young children. Other mucocutaneous symptoms, for example, trichilemmomas in the nasolabial folds and palmar and plantar hyperkeratotic pits, usually become evident later in childhood. They are often accompanied by the appearance of subcutaneous lipomas and cutaneous haemangiomas.
考登综合征，即多发性错构瘤综合征，是一种累及多个器官系统的家族性癌症综合征。其遗传方式为常染色体显性遗传，表现多样。进行性巨头畸形、阴囊舌以及轻度至中度智力发育迟缓是幼儿期提示该综合征的重要体征。其他皮肤黏膜症状，如鼻唇沟的毛发上皮瘤以及手掌和足底的角化过度性凹坑，通常在儿童期后期才会明显出现。它们常伴有皮下脂肪瘤和皮肤血管瘤的出现。
