Ishibashi Masafumi, Matsuda Fumio, Oka Hiroshi, Ishiko Akira
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
J Cutan Pathol. 2006 Jun;33(6):447-53. doi: 10.1111/j.0303-6987.2006.00470.x.
A 32-year-old female had cutaneous and musculoskeletal changes consistent with congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. She was born with the dysplastic, shortened right-sided arm and leg. Erythematous, hyperkeratotic lesion occurred on the trunk initially and extended to the right-sided arm and leg. Almost all area of her right-side body except the head and neck was covered by the erythematous lesion with yellow waxy scales, and the distal end of the rudimentary leg showed a verrucous appearance.
The histology shared many features with verruciform xanthoma. Electron microscopy revealed vesicular structures in the intercellular spaces of the stratum corneum and vacuoles or vesicular structures in upper prickle cell layer. Some of them can be recognized as abnormal lamellar granules. Within the foamy cells in the papillary dermis, large vacuoles were found.
These findings suggested that abnormal lipid metabolism involving lamellar granules may be responsible to the skin lesion of CHILD syndrome.
一名32岁女性出现了与先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷（CHILD）综合征相符的皮肤和肌肉骨骼改变。她出生时右侧手臂和腿部发育不良且短小。躯干最初出现红斑、角化过度病变，并扩展至右侧手臂和腿部。除头颈部外，她右侧身体几乎所有部位都被带有黄色蜡样鳞屑的红斑病变覆盖，发育不全腿部的远端呈疣状外观。
组织学表现与疣状黄瘤有许多共同特征。电子显微镜检查显示角质层细胞间隙中有泡状结构，棘细胞上层有液泡或泡状结构。其中一些可被识别为异常板层颗粒。在乳头真皮的泡沫细胞内发现了大液泡。
这些发现提示涉及板层颗粒的异常脂质代谢可能是CHILD综合征皮肤病变的原因。
