Dwiyana Reiva Farah, Banjarnahor Ivan Daniel, Diana Inne Arline, Gondokaryono Srie Prihianti, Effendi Raden Mohamad Rendy Ariezal, Feriza Vina
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia.
Clin Cosmet Investig Dermatol. 2022 Apr 29;15:803-808. doi: 10.2147/CCID.S363179. eCollection 2022.
Incontinentia pigmenti (IP) is a rare genodermatosis, inherited in an X-linked dominant pattern, making it generally found among women. Among several characteristics of IP are four phases of skin manifestation that tend to follow Blaschko's lines, in addition to abnormalities of the eye, central nervous system (CNS), and teeth. Ocular involvement in IP patients can occur since birth, which can be classified into retinal or non-retinal disorders. Retinal disorders can result in detachment, which is a major ocular threat for IP patients. This article reports two IP cases with overlapped phases of skin disorders in baby girls with ocular manifestations since early life. Clinical signs and additional examination of the skin and eyes are utilized to make the diagnosis. All the features of the histopathological examination supported the diagnosis of IP, and ocular exams revealed abnormalities in the form of retinal neovascularization (RN). Although RN may resolve spontaneously, patients should be monitored for the development of other eye disorders such as visual impairment.
色素失禁症（IP）是一种罕见的遗传性皮肤病，呈X连锁显性遗传，因此通常在女性中发现。IP的几个特征包括皮肤表现的四个阶段，这些阶段往往沿着布拉斯科线分布，此外还伴有眼睛、中枢神经系统（CNS）和牙齿的异常。IP患者的眼部受累可自出生时就出现，可分为视网膜或非视网膜疾病。视网膜疾病可导致视网膜脱离，这是IP患者面临的主要眼部威胁。本文报告了两例自幼年起就有眼部表现的女婴IP病例，其皮肤疾病阶段重叠。通过临床体征以及皮肤和眼睛的进一步检查来进行诊断。组织病理学检查的所有特征均支持IP的诊断，眼部检查发现视网膜新生血管（RN）形式的异常。尽管RN可能会自发消退，但仍应对患者进行监测，以观察是否会出现其他眼部疾病，如视力损害。
