Chan Y C, Giam Y C
National Skin Centre, 1 Mandalay Road, Singapore 308205.
Ann Acad Med Singap. 2001 Jul;30(4):409-13.
Incontinentia pigmenti is a rare X-linked dominant disease which affects the ectodermal tissues, usually lethal in males.
A retrospective analysis of clinical data obtained from the photographic documentation and casenotes of patients diagnosed to have incontinentia pigmenti at the National Skin Centre. The study covered the period from January 1990 to December 1999.
Twenty-six patients were diagnosed to have incontinentia pigmenti of the Bloch-Sulzberger type; 23 (88.5%) were females and 3 (11.5%) were males. There were 20 Chinese, 3 Malay and 3 Indian patients. Most patients had cutaneous manifestations at birth or within the first week of life. Cutaneous features included vesicles, papules, verrucous plaques and splash-like hyperpigmentation along the lines of Blaschko. The cutaneous lesions were widespread in 21 (81%) and localised in 5 (19%) patients. In some cases, hypopigmented atrophic streaks (2 patients) or whorled scarring alopecia (4 patients) were seen. Extracutaneous manifestations, seen in 5 (19%) patients, included neurological, dental and ocular defects. One Malay girl had severe neurological involvement associated with ocular abnormalities. A positive family history was present in 6 (23%) patients. The 3 male patients were Chinese without any family history.
Each stage of the disease comes with its own set of differential diagnosis, including infections e.g. herpes virus infection and other types of genodermatoses e.g. linear and whorled nevoid hypermelanosis. The phenomenon of whorled scarring alopecia, hitherto unreported in the literature, corresponded to the lines of Blaschko. In the 3 Chinese male patients, the disorder probably originated from a new mutation. X chromosome inactivation in females during early embryogenesis results in a mosaic population of cells and this explains the linear and patchy manifestations of incontinentia pigmenti.
色素失禁症是一种罕见的X连锁显性疾病，会影响外胚层组织，男性通常致死。
对从国家皮肤中心诊断为色素失禁症患者的照片记录和病历中获取的临床数据进行回顾性分析。该研究涵盖1990年1月至1999年12月期间。
26例患者被诊断为布洛克-苏尔茨贝格型色素失禁症；23例（88.5%）为女性，3例（11.5%）为男性。有20例华裔、3例马来裔和3例印度裔患者。大多数患者在出生时或出生后第一周内出现皮肤表现。皮肤特征包括水疱、丘疹、疣状斑块以及沿布拉斯科线分布的泼溅状色素沉着。21例（81%）患者的皮肤病变广泛，5例（19%）患者的病变局限。在某些病例中，可见色素减退萎缩条纹（2例患者）或涡状瘢痕性脱发（4例患者）。5例（19%）患者出现皮肤外表现，包括神经、牙齿和眼部缺陷。一名马来女孩有严重的神经受累并伴有眼部异常。6例（23%）患者有阳性家族史。3例男性患者为华裔，无家族史。
疾病的每个阶段都有其自身的一系列鉴别诊断，包括感染，如疱疹病毒感染，以及其他类型的遗传性皮肤病，如线状和涡状痣样黑素沉着症。涡状瘢痕性脱发现象，此前文献未报道过，与布拉斯科线相对应。在3例华裔男性患者中，该疾病可能源于新的突变。女性在胚胎早期发育过程中的X染色体失活导致细胞群体呈镶嵌性，这解释了色素失禁症的线状和斑片状表现。
