Read R W, Burnstine M, Rowland J M, Zamir E, Rao N A
Doheny Eye Institute, Keck School of Medicine at the University of Southern California, 1450 San Pablo Street, Los Angeles, CA 90033, USA.
Ophthalmology. 2001 Apr;108(4):798-804. doi: 10.1016/s0161-6420(00)00638-2.
To report a rare case of rhabdomyomatous mesenchymal hamartoma and to compare its features with those cases previously reported.
Interventional case report and literature review.
Complete ophthalmologic and systemic examinations followed by excisional biopsy and histopathologic examination.
Clinical examination features and histopathologic findings.
A 6-month-old Latino male presented with a congenital, elevated, smooth, flesh-colored right lower eyelid lesion. An ipsilateral right limbal dermoid and an upper eyelid coloboma were also present. Excisional biopsy of the eyelid lesion revealed randomly oriented mature striated muscle tissue with associated adipose tissue, blood vessels, pilosebaceous units, and peripheral nerves, findings consistent with rhabdomyomatous mesenchymal hamartoma. Of the 24 reported cases (including the current case), eight had associated congenital anomalies.
Although rhabdomyomatous mesenchymal hamartomas are rare and benign, they may be associated with other congenital anomalies and anomaly syndromes. As a result, we recommend systemic evaluation of patients diagnosed with this entity.
报告1例罕见的横纹肌瘤性间充质错构瘤病例，并将其特征与既往报道的病例进行比较。
介入性病例报告及文献复习。
进行全面的眼科及全身检查，随后行切除活检及组织病理学检查。
临床检查特征及组织病理学发现。
1名6个月大的拉丁裔男性患儿，右眼下睑有一先天性、隆起、表面光滑、肉色的病变。同侧右眼角膜缘皮样瘤及上睑缺损也存在。眼睑病变切除活检显示有随机排列的成熟横纹肌组织，伴有脂肪组织、血管、皮脂腺单位及周围神经，这些发现符合横纹肌瘤性间充质错构瘤。在24例报道的病例（包括本例）中，8例伴有相关先天性异常。
虽然横纹肌瘤性间充质错构瘤罕见且为良性，但可能与其他先天性异常及异常综合征相关。因此，我们建议对诊断为此病的患者进行全身评估。
