A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.
A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.
复制标题
一种家族性皮肤松弛综合征，伴有胶原蛋白和弹性蛋白超微结构异常。
DOI：
10.1111/1523-1747.ep12523655
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发表时间：
1980
期刊：
影响因子：
--
通讯作者：
Pinnell,SR
中科院分区：
文献类型：
--
作者：
Marchase,P;Holbrook,K;Pinnell,SR
材料和方法1，KG，11岁男性，SG(见下文)的儿子，正常妊娠和分娩的产物，出生时在左脚背侧和小腿以及左侧都有血管痣。到3岁时，侧翼病变已经消失。随着静脉曲张的逐渐发展，左腿畸形变得更加明显，以及腿长不等和足部大小不同。他的皮肤是正常的，直到9岁时，他的屈曲皮肤出现松弛，并迅速进展到全身受累超过6个月。无丘疹或纹状病史。无疝气、关节或骨骼异常、眼科问题或肺部症状。病人确实有易擦伤的症状。体格检查显示，一名发育良好的男性皮肤对他的身体来说太大了，弯曲处有明显的皱纹。面部和颈部皮肤普遍下垂。皮肤略有伸展，没有丘疹。两个膝盖上都有萎缩的疤痕。眼科和心脏检查正常。关节活动度正常。有一个累及左脚背侧和小腿远端的血管痣，伴有多种静脉曲张。左脚踝比右脚踝大0.5厘米。左脚背比右脚掌大1厘米。
MATERIALS AND METHODSCase 1, KG, an 11-yr-old male, the son of SG (see below) and the product of a normal pregnancy and delivery was noted at birth to have a vascular nevus over the dorsal left foot and lower leg as well as the left flank. By age 3, the flank lesion had disappeared. The left leg abnormality became more apparent with varicosities gradually developing as well as leg length inequality and differential foot size. His skin was normal until age 9 when he developed laxity of the flexural skin with rapid progression over 6 mo to total body involvement. There was no history of papules or striae. There were no hernias, joint or skeletal abnormalities, ophthalmologic problems, or pulmonary symptoms. The patient does experience easy bruisability. Physical exam showed a well-developed male with skin that appeared too large for his body and wrinkled markedly in the flexures. There was generalized drooping of the facial and neck skin. The skin was slightly extensible and there were no papules. Atrophic scars were present over both knees. Ophthalmological and cardiac exams were normal. Joint mobility was normal. There was a vascular nevus involving the dorsal left foot and distal leg with multiple varicosities. The left ankle was 0.5 em larger than the right. The left instep was 1 em larger than the right.