Clinical characteristics and genetic survey on four families of keloid / 中华医学美学美容杂志

ABSTRACT

Objective To study the clinical and genetic characteristics of keloid through investigating on four Han Chinese pedigrees.Methods The pedigree information and clinical data from Han Chinese keloid pedigrees were collected,which consisted of 22 patients in 127 family members,and then the charts of these pedigrees were constructed according to the data.Using the genetic model and pedigree analyses we summarized the clinical features of the disease in the families.Results Four Han Chinese keloid pedigrees were discovered.The three pedigree spans included 3 generations and one was 4 generations.Incidence of KD in the consanguinity family member was 23.7％ (23/93),and 20.8％ (11/53) in male KD,and 27.5％ (11/40) in female.Incidence of anterior chest KD was 40.9 ％.The inheritance pattern observed in these pedigrees was consistent with an autosomal dominant inheritance multi-gene hereditary disease with incomplete penetrance,and its nonpenetrance of KD gene carriers was 12％ (3/25).Conclusions The pattern of inheritance observed in these four Han Chinese keloid pedigrees is similar to previous reports and no gender differences are found in the incidence of disease,but differences in pathogenic site.Pedigree investigation helps to reveal the genetic characteristics of keloid.