Section of Dermatology and Infectious Diseases, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.
Pediatr Dermatol. 2021 May;38(3):637-639. doi: 10.1111/pde.14540. Epub 2021 Mar 13.
Partial trisomy-13 mosaicism (PT13M) is a rare condition. Among its possible associated cutaneous features, phylloid hypomelanosis (PH), characterized by leaf-like macules reminiscent of floral ornaments in the form of round or oval spots and patches and oblong lesions, is typical. Two cases of PH associated with hidradenitis suppurativa (HS) have been already reported in the literature. We report a third child with PH due to PT13M associated with HS-like lesions limited to hypomelanotic regions. We hypothesize that follicular occlusion genes may be located in the duplicated part of chromosome 13.
部分 13 三体嵌合体（PT13M）是一种罕见的情况。其可能存在的皮肤特征包括叶状性低色素沉着症（PH），其特征为呈圆形或椭圆形斑点和斑块以及长形损害的类似花卉装饰的叶片状斑点。文献中已经报道了两例与化脓性汗腺炎（HS）相关的 PH。我们报告了第三例由于 PT13M 引起的 PH，其与局限于低色素沉着区域的 HS 样病变相关。我们假设毛囊闭锁基因可能位于 13 号染色体的重复部分。
