The late appearance of hypopigmented maculae in tuberous sclerosis.
The late appearance of hypopigmented maculae in tuberous sclerosis.
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DOI：
10.1001/archpedi.1985.02140060090039
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发表时间：
1985-04
影响因子：
--
通讯作者：
E. Oppenheimer;N. Rosman;E. Dooling
中科院分区：
文献类型：
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作者：
E. Oppenheimer;N. Rosman;E. Dooling
结节性硬化症(TS)是一种以癫痫、发育迟缓和特定皮肤损害为特征的主要遗传性疾病。80%的TS患者出现黄斑色素减退，这对儿童TS的临床诊断具有重要意义。这些皮损声称是从出生起就存在的，而其他皮肤病的表现通常出现得更晚。我们研究了7名儿童，在反复的阴性皮肤检查后，他们出现了数月至数年的色素减退斑点。我们的研究结果强调，幼儿中没有色素减退的黄斑并不排除他们以后出现的可能性，也不排除TS的诊断。对于怀疑患有TS或癫痫发作和/或原因不明的智力低下的婴儿和儿童，显然需要进行反复的皮肤检查。
Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.