1977 年 17 巻 5 号 p. 240-253
This article reviews the clinical symptoms and the molecular causes of several skin diseases (dermatoses). These dermatoses are; Xeroderma Pigmentosum, Ataxia Telangiectasia, Fanconi's Syndrome, Ehlers-Danlos Syndrome and Epidermolysis Bullosa; all of them are rare hereditary diseases.
Xeroderma Pigmentosum, Ataxia Telangiectasia and Fanconi's Syndrome are all clinically characterized by typical skin symptoms and high susceptivity to malignancies (skin cancer, leukemia, lympho-reticular malignancies, etc.). The nature underlying these diseases is basically thought to be due to their inability to repair DNA damage caused by some agents.
Ehlers-Danlos Syndrome is a very famous connective tissue disorder, and found to be primarily due of some enzymatic defects in collagen synthetic pathway.
Epidermolysis Bullosa is clinically characterized by spontaneous bulla formation on the skin. The pathogenesis is not well elucidated in molecular term at present, however, studies with this disease will help us to understand structures and functions of the skin, especially junctional part of the dermis and epidermis, as well as the epitherial tissues.