角化症研究の流れ : 当教室のトピックスを中心に(<特集>医学研究のUP-TO-DATE)  [in Japanese] Research history for keratinizing disorders at Department of Dermatology, Juntendo University School of Medicine  [in Japanese]

角化症は,稀少かつ原因不明の疾患群であるが,近年の分子生物学あるいは分子遺伝学の進歩により,多くの角化症において原因遺伝子の同定が成され、また現在その機能解析が行われている.本講演では,順天堂大学医学部皮膚科の基礎と臨床の研究の流れを紹介しつつ,各角化症疾患とその原因分子につき,時代の流れとともに各々の時点での各疾患の捕らえ方を振り返りたい.角化症とは表皮角化細胞(ケラチノサイト)の機能に関する様々な分子の異常により生じるものであり,ケラチノサイトの多機能性を示唆するものである.

(Congenital) keratinization disorders are a group of rare and origin-unknown diseases in which many responsible genes have been identified recently in accordance with advances in molecular genetics techniques. In this presentation, we have summarized the clinical findings and identified the disease-gene of each (major) keratinization disease in addition to the history of clinical and basic research for keratinization disorders performed in the Department of Dermatology, Juntendo University School of Medicine. These observations indicated that keratinization disorders are defined as being caused by mutations in the genes specifically expressed in keratinocytes. Moreover, keratinocytes are unexpectedly multifunctional.