Macrodystrophia Lipomatosa: A Case Report

脂瘤性巨大症：病例報告

陳珮瑩(Pai-Yin Chen) ； 程琡敏(Shu-Min Chen) ； 林啟禎(Chii-Jeng Lin)

《台灣復健醫學雜誌》 39卷3期 (2011/09) Pp. 175-180

https://doi.org/10.6315/2011.39(3)06

摘要

脂瘤性巨大症是一種局部巨大症的罕見先天性異常，其特點是漸進性間質增生，尤其是纖維脂肪組織。該異常經常出現在上肢的正中神經和下肢的足底神經支配範圍。通常是在出生時就可發現手指或腳趾的肥大，其致病原因不明，主要是經由臨床病史，身體檢查及影像學表現特徵來診斷，顯示出先天性巨指和軟組織及骨質的增生。本文報告一位3歲的男孩患有脂瘤性巨大症，主要影響左手的食指和中指。其臨床表現及X光表現典型，但磁振造影和病理切片結果主要是以纖維化爲主，脂肪組織的增生相對較少，是與其他病例報告不同之處。

關鍵字

巨大症 ； 組織肥大 ； 先天性巨指 ； 脂瘤性巨大症

並列摘要

Macrodystrophia lipomatosa is a rare congenital anomaly of localized gigantism, characterized by progressive overgrowth of all mesenchymal components, particularly fibroadipose tissue. The anomaly occurs frequently in the distribution regions of the median nerve in the upper extremity and the plantar nerve in the lower extremity. It is usually noticed at birth with predominately unilateral distal involvement of the digits. The cause of this condition is still unknown. Physicians use the patient's clinical history, physical examination, and imaging techniques to diagnose the condition, with characteristic imaging findings revealing macrodactyly with hypertrophy of the soft tissue and osseous structures. This study reports the case of a 3-year-old boy with macrodystrophia lipomatosa affecting the index and middle fingers of the left hand. Clinical presentation and radiographic imaging demonstrated typical findings, as reported in previous studies, but magnetic resonance imaging and histological examination revealed dominant fibrosis, instead of the fatty tissue characteristic to the condition.

並列關鍵字

gigantism ； hypertrophy ； macrodactyly ； macrodystrophia lipomatosa