Galli-Galli病(GGD)是一种罕见的遗传性皮肤病,表现出常染色体显性遗传,外显率可变。GGD通常表现为红斑,丘疹,弯曲区域的网状色素沉着过度。存在一个独特的非典型变体,主要在树干上有棕色斑疹,下肢,和四肢,在弯曲区域明显没有标志性的网状色素沉着。这篇综述包括详细的文献检索,并审查了自1982年GGD首次描述以来的案例。它旨在综合当前关于GGD的知识,涵盖其病因,临床表现,组织病理学,诊断,和治疗。这篇综述的一个重要方面是对遗传的探索,组织病理学,GGD和Dowling-Degos病(DDD)之间的临床相似之处,这是另一种罕见的常染色体显性遗传病,特别关注它们在KRT5和POGLUT1基因中的共有突变。这支持了GGD和DDD可能是相同病理条件下不同表型表达的假设。尽管它们传统上被认为是独立的实体,上棘皮松解是GGD的显着特征。最后,这篇综述讨论了现有的治疗方法,强调缺乏既定的指导方针和各种治疗方法的有效性有限。
Galli-Galli disease (GGD) is a rare genodermatosis that exhibits autosomal dominant inheritance with variable penetrance. GGD typically manifests with erythematous macules, papules, and reticulate hyperpigmentation in flexural areas. A distinct atypical variant exists, which features brown macules predominantly on the trunk, lower limbs, and extremities, with a notable absence of the hallmark reticulated hyperpigmentation in flexural areas. This review includes a detailed literature search and examines cases since GGD\'s first description in 1982. It aims to synthesize the current knowledge on GGD, covering its etiology, clinical presentation, histopathology, diagnosis, and treatment. A significant aspect of this review is the exploration of the genetic, histopathological, and clinical parallels between GGD and Dowling-Degos disease (DDD), which is another rare autosomal dominant genodermatosis, particularly focusing on their shared mutations in the KRT5 and POGLUT1 genes. This supports the hypothesis that GGD and DDD may be different phenotypic expressions of the same pathological condition, although they have traditionally been recognized as separate entities, with suprabasal
acantholysis being a distinctive feature of GGD. Lastly, this review discusses the existing treatment approaches, underscoring the absence of established guidelines and the limited effectiveness of various treatments.