遗传性全身色素不均匀症。
Dyschromatosis universalis hereditaria.
发表日期:2023 Aug 27
作者:
Aravind B Murthy, Vijayasankar Palaniappan, Kaliaperumal Karthikeyan, Varshini Anbarasan
来源:
International journal of dermatology
摘要:
网状色素性色素紊乱的主要类型包括遗传性全身色素性色素细胞病(DUH)、遗传性对称色素病(DSH)(Dohi的网状肢端色素沉着症)和单侧皮肤支配区色素性皮肤病,这些类型在斑块分布方面存在差异。该疾病最初由Ichikawa和Hiraga于1933年在德国进行描述。DUH的患病率为每10万人口0.3例,且女性较多。皮肤病损通常在婴儿期或幼儿期出现,在青春期停止进展。DUH 1和DUH 3亚型发生常常为常染色体显性遗传方式,这是最常见的遗传模式,而DUH 2则呈现常染色体隐性遗传模式。DUH最常涉及的基因是ABCB6,其他涉及的基因包括SASH1、PER3和KITLG(DUH 2型)。DUH的特点是躯干和四肢上多发不规则的色素沉着斑块,夹杂着色素缺乏斑块,呈现斑驳的模式。面部受累者占个体的50%。罕见情况下,它也可以涉及头发、指甲、粘膜、手掌和脚底。其他不同的表现形式包括局灶性形式、损伤仅局限于阳光照射部位、大面积斑块、均匀的手掌色素缺乏、弥漫性色素沉着伴有斑点状色素缺乏斑块和单侧受累。有报道称DUH与多种皮肤和全身性疾病相关。作者观察到出现DUH与肝细胞癌、孤立性角化瘤和皮样囊肿有关的病例。各种诊断方法包括皮肤显微镜检查、组织病理学检查、电镜检查和靶向基因测序。虽然已尝试了各种治疗方法,如荧光紫外线疗法和激光治疗,但目前没有有效的治疗方法。©2023年国际皮肤病学协会。
Reticulate pigmentary dyschromatoses primarily include dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH) (Reticulate acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis, which differ in their patterns of distribution. The disease was initially described by Ichikawa and Hiraga in Germany in 1933. The prevalence of DUH is 0.3 per 100,000 with a female preponderance. The skin lesions usually appear in infancy or early childhood and cease to progress beyond adolescence. The subtypes DUH 1 and DUH 3 are found to have autosomal dominant inheritance, which is the most common inheritance pattern, while DUH 2 has an autosomal recessive pattern. The most common gene involved in DUH is ABCB6, while the other genes include SASH 1, PER 3, and KITLG (DUH type 2). DUH is characterized by multiple irregular hyperpigmented macules interspersed with hypopigmented macules in a mottled pattern over the trunk and extremities. The face is involved in 50% of individuals. Rarely, it can also involve hairs, nails, mucous membranes, palms, and soles. Other varied presentations include localized forms, localization of lesions to sun-exposed areas, large macules, uniform palmar hypopigmentation, diffuse hyperpigmentation with spotty depigmented macules, and unilateral involvement. DUH has been reported to be associated with various cutaneous and systemic diseases. The authors have observed cases of DUH associated with hepatocellular carcinoma, solitary keratoacanthoma, and dermoid cyst. The various diagnostic modalities include dermoscopy, histopathology, electron microscopy, and targeted gene sequencing. Though various treatment modalities like NBUVB and lasers have been tried, no treatment is promising.© 2023 the International Society of Dermatology.