Case report Bloch-Sulzberger syndrome: a case report

Anna Rosińska-Więckowicz, M. Czarnecka-Operacz
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引用次数: 1

Abstract

Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a very rare genodermatosis characterized by typical skin lesions accompanied by dental, central nervous system, bone and ocular abnormalities. Incontinentia pigmenti is usually observed among women, as this X-linked dominantly inherited disorder is lethal in males. The hallmark fea ture of IP is cutaneous eruption along the lines of Blaschko, usually accompanied by neurological disorders. Apart from clinical features of the disease, skin biopsy is the best diagnostic tool to confirm the diagnosis. We present a case of a newborn with typical vesicular and then verrucous lesions affecting the lower legs.
布洛赫-苏兹伯格综合症:一个病例报告
色素失禁症(Incontinentia pigmenti, IP, Bloch-Sulzberger syndrome)是一种非常罕见的遗传性皮肤病,其特征是典型的皮肤病变,并伴有牙齿、中枢神经系统、骨骼和眼部异常。色素失禁通常在女性中观察到,因为这种x连锁的显性遗传疾病在男性中是致命的。IP的标志性特征是沿Blaschko线皮肤爆发,通常伴有神经系统疾病。除了疾病的临床特征外,皮肤活检是确认诊断的最佳诊断工具。我们提出一个新生儿的情况下,典型的水疱,然后疣性病变影响小腿。
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