Kieselova Katarina, Santiago Felicidade, Henrique Martinha, Cunha Maria Fernanda
Department of Dermatology, Centro Hospitalar Leiria, Leiria, Portugal.
Department of Pathology, Centro Hospitalar Leiria, Leiria, Portugal.
BMJ Case Rep. 2017 Aug 28;2017:bcr-2017-221695. doi: 10.1136/bcr-2017-221695.
Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome.
考登综合征是一种罕见的常染色体显性遗传病，其特征为皮肤黏膜错构瘤，最重要的是，易患各种皮肤外的良性和恶性肿瘤。这种疾病与位于10q23染色体上的磷酸酶和张力蛋白同源基因（一种肿瘤抑制基因）的种系突变有关。这种遗传性皮肤病的表现度高度可变，因此许多病例仍未得到诊断。皮肤和黏膜表现在考登综合征中非常常见，可能是导致诊断的初始临床表现。作者描述了一例58岁男性患者，患有多发性皮肤硬化性纤维瘤，伴有先前未被认识的考登综合征。
