Xiao-Kai Fang, Yue-Xi He, Yan-Jia Li, Li-Rong Chen, He-Peng Wang, Qing Sun
School of Medicine, Shandong University - Jinan, China.
Department of Dermatology, The First Hospital of HeBei Medical University - Shijiazhuang, China.
An Bras Dermatol. 2017 May-Jun;92(3):329-333. doi: 10.1590/abd1806-4841.20175567.
Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene.
To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH.
Histopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations.
A Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found.
The new pathogenic gene was not found.
A family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.
家族性进行性色素沉着过多和过少症（FPHH）是一种罕见的遗传性皮肤病，其特征为皮肤和黏膜上出现弥漫性色素沉着过多和过少斑点。它由KITLG基因突变引起。
研究一个患FPHH的中国家系的临床特征及KITLG基因的突变情况。
对先证者的皮损进行组织病理学和免疫组化分析。筛查KITLG基因是否存在突变。
描述了一个包含14名FPHH患者的中国家系，先证者为一名5岁女孩，其四肢和躯干有弥漫性色素沉着过多和过少性损害。对色素沉着过多区域的皮肤活检标本进行S100和HMB45的组织病理学和免疫组化染色显示，整个表皮黑色素显著增加，尤其是在基底细胞层，而色素沉着过少区域标本的染色显示表皮中黑色素水平较低。对KITLG基因进行了突变分析，但未发现突变。
未发现新的致病基因。
描述了一个FPHH家系。分析显示其成员没有KITLG基因的任何突变，这为这种遗传性皮肤病的遗传异质性提供了证据。
