Department of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
J Dermatol. 2020 Mar;47(3):306-310. doi: 10.1111/1346-8138.15216. Epub 2020 Jan 6.
Cantu syndrome is an autosomal dominant disorder, first described by Cantu in 1982, that is characterized by congenital hypertrichosis, characteristic facial anomalies and cardiomegaly. Recent investigations have revealed that this syndrome is caused by mutations of ABCC9, which encodes a regulatory subunit of SUR2, an adenosine triphosphate-mediated potassium channel opener, expressed not only in smooth muscle but also in hair follicles. However, the abnormalities of skin and hair in patients with Cantu syndrome have not been well explored. We herein report three Japanese patients with Cantu syndrome and describe their specific skin manifestations and alterations in the histopathology of their hair follicles and sebaceous glands. Similar alterations were shared among those three patients and may be related to the function of SUR2, namely the regulation of hair follicle growth, because SUR2 is a known pharmacological target of minoxidil.
坎图综合征是一种常染色体显性遗传病，由坎图于 1982 年首次描述，其特征为先天性多毛症、特征性面部异常和心脏肥大。最近的研究表明，这种综合征是由 ABCC9 基因突变引起的，ABCC9 编码 SUR2 的调节亚基，SUR2 是一种三磷酸腺苷介导的钾通道开放剂，不仅在平滑肌中表达，也在毛囊中表达。然而，坎图综合征患者的皮肤和毛发异常尚未得到很好的研究。我们在此报告了 3 例日本坎图综合征患者，并描述了他们特定的皮肤表现以及毛囊和皮脂腺组织病理学的改变。这 3 例患者具有相似的改变，可能与 SUR2 的功能有关，即毛囊生长的调节，因为 SUR2 是米诺地尔的已知药理学靶点。
