Identification Of Disease Gene And Analysis Of Clinical And Genetic Features Of Multiple Familial Trichoepithelioma

Part I :Multiple familial trichoepithelioma: Analyses of Clinicaland Genetic FeaturesObjective To study the clinical and genetic features of multiple familial trichoepithelioma (MFT) in Chinese. Methods we analyzed one MFT pedigree collected by clinic and studied the clinical and genetic features of MFT by reviewing 6 families reported in China since 1994. Results (1) The pattern of inheritance was autosomal dominant. (2) The patients showed multiple dome-shaped, skin-colored, firm papules along the nasolabial folds. Some patients also present the lesions on the scalp. (3) The mean age of onset is about 9.8 years old. (4) There was different expressity in different patients of the same family. (5) The patients with MFT in Family I was also affected by progressive symmetric erythrokeratodermia. Patients with MFT in other families was not affected by other diseases such as . cylindromas and basal cell carcinoma. (6) No patient shows the malignant tendency of trichoepithelioma. (7) delayed or irregular dominance may happen. (8) The involvement of MFT in woman is about twice than that in man. Conclusion MFT generally shows an autosomal dominant pattern of inheritance with high penetrance. and it is not a rare disease in Chinese. The mean age of onset is about 9.8 years old. The typical MFT is characterized by the presence of many skin-colored, firm papules between 3mm and 10mm in size located predominantly in the nasolabial folds. There are differences in the expressity of patients.