Sánchez R L, Raimer S S
Department of Pathology, University of Texas Medical Branch, Galveston 77555-0588.
J Cutan Pathol. 1994 Feb;21(1):40-6. doi: 10.1111/j.1600-0560.1994.tb00689.x.
We describe 5 new cases of striated muscle hamartoma (SMH) and review the 7 cases previously described in the literature. Eleven of the 12 patients had single lesions centrally located on the chin (4), near the ala of the nose (3), on the upper chest (3), and on the upper lip (1). Histologically all of the lesions were characterized by a central core containing bundles and individual fibers of skeletal muscle as well as other mesenchymal elements. The muscle fibers penetrated the dermis among numerous folliculo-sebaceous structures. Of the 12 cases of SMH, 3 had other associated congenital anomalies including a cleft lip in 1 patient and a thyroglossal duct sinus in another with single lesions, and preauricular sinuses, low-set ears and bilateral sclerocorneas in the case of multiple SMH. The relationship of SMH with oculocerebrocutaneous syndrome is discussed, and we conclude that at least some of the skin appendages associated with that syndrome are SMH.
我们描述了5例横纹肌错构瘤(SMH)新病例,并回顾了文献中先前描述的7例病例。12例患者中有11例有单个病变,位于下巴中央(4例)、鼻翼附近(3例)、上胸部(3例)和上唇(1例)。组织学上,所有病变的特征是中央核心包含骨骼肌束和单个纤维以及其他间充质成分。肌纤维在众多毛囊皮脂腺结构之间穿透真皮。在12例SMH病例中,3例有其他相关先天性异常,包括1例患者唇裂、另1例单发病变患者甲状舌管窦,以及1例多发SMH患者伴有耳前窦、低位耳和双侧巩膜角膜。讨论了SMH与眼脑皮肤综合征的关系,我们得出结论,该综合征相关的至少一些皮肤附属器是SMH。