CAJ | 학술논문

遗传性秃发/少毛症是一组临床少见的遗传性脱发性疾病.近年确定多种遗传性秃发/少毛症的致病基因及其染色体定位,包括Marie-Urna型遗传性少毛症(U2HR,8p21.3)、常染色体显性遗传性单纯性少毛症(APCDD1,18p11.22;RPL21,13q12)、常染色体隐性遗传性单纯性少毛症(DSG4,18q12.1;DSC3,18q21.1;LIPH,3q26-27;P2RY5,13q13-14;10q11.23-22.3;7p21.3-22.3)、常染色体隐性遗传性羊毛状发(LIPH,3q26-27;P2RY5,13q13-14)、常染色体显性遗传性羊毛状发(KRT74,12q12-14)和毛囊性鱼鳞病-秃发-畏光综合征(MBTPS2,Xp22).这些基因在毛囊发生和毛囊生长周期过程中具有重要的调控作用,各种致病性突变均可导致毛囊发生和生长异常,引起秃发/少毛症.
유전성독발/소모증시일조림상소견적유전성탈발성질병.근년학정다충유전성독발/소모증적치병기인급기염색체정위,포괄Marie-Urna형유전성소모증(U2HR,8p21.3)、상염색체현성유전성단순성소모증(APCDD1,18p11.22;RPL21,13q12)、상염색체은성유전성단순성소모증(DSG4,18q12.1;DSC3,18q21.1;LIPH,3q26-27;P2RY5,13q13-14;10q11.23-22.3;7p21.3-22.3)、상염색체은성유전성양모상발(LIPH,3q26-27;P2RY5,13q13-14)、상염색체현성유전성양모상발(KRT74,12q12-14)화모낭성어린병-독발-외광종합정(MBTPS2,Xp22).저사기인재모낭발생화모낭생장주기과정중구유중요적조공작용,각충치병성돌변균가도치모낭발생화생장이상,인기독발/소모증.
Hereditary alopecia/hypotrichosis is a large group of rare genetic disorders characterized by hair loss.Many causative genes and their corresponding chromosomal locations have been identified for several types of hereditary alopecia/hypotrichosis in recent years,including Marie-Unna hereditary hypotrichosis(U2HR,8p21.3),autosomal dominant hypotrichosis simplex(APCDD1,18p11.22;RPL21,13q12),autosomal recessive hypotrichosis simplex(DSG4,18q12.1;DSC3,18q21.1;LIPH,3q26-27;P2RY5,13q13-14;10q11.23-22,3;7p21.3-p22.3),autosomal recessive woolly hair/hypotrichosis(LIPH,3q26-27;P2RY5,13q13-14),autosomal dominant woolly hair/hypotrichosis(KRT74,12q12-14)and ichthyosis follicularis-alopecia-photophobia syndrome(MBTPS2,Xp22).These genes play critical roles in the regulation of hair follicle morphogenesis and growth cycles,and their pathogenic mutations may lead to abnormality in hair follicle morphogenesis and development,thus result in alopecia/hypotrichosis.