Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: A distinct syndrome
Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: A distinct syndrome
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DOI：
10.2340/00015555-0495
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发表时间：
2008-01-01
影响因子：
3.6
通讯作者：
Tinschert, Sigrid
中科院分区：
文献类型：
--
作者：
Happle, Rudolf;Tinschert, Sigrid
一位39岁的男性，以Blaschko线的系统化模式表现为累及右侧身体的多发性基底细胞样滤泡性错构瘤。他的右腿比左腿短22.5 cm，在左手和右脚上发现了残留的轴前多指畸形。右上颌骨牙齿发育不全。DNA分析的血液淋巴细胞和成纤维细胞从病变的皮肤没有发现任何突变的补丁基因。考虑到这一情况下，并在文献中发现的8个类似的情况下，一个独特的综合征的频谱划定。同侧皮外缺损包括颈肋、多指畸形、拇指畸形和肢体骨不成比例的过度生长或生长不足;牙齿异常，如无牙、缺牙或成釉细胞瘤;以及大脑缺陷，如智力迟钝、步态不稳、脑膜瘤和视神经胶质瘤。这种综合征的皮肤病变不应被称为“基底细胞痣”，因为这将导致继续与Gorlin综合征混淆。这种疾病的分子基础仍有待阐明。
A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral extracutaneous defects include cervical ribs, polydactyly, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and optic glioma. The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated.