Manuja Nishtha, Mohale Sandip, Khandelwal Shreya, Sood Anshul
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.
Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, Maharashtra, India, 442001.
Radiol Case Rep. 2024 Dec 7;20(2):1280-1283. doi: 10.1016/j.radcr.2024.11.029. eCollection 2025 Feb.
A rare type of localized gigantism known as macrodystrophia lipomatosa is characterized by a disproportionate increase in fibroadipose tissues and a gradual overgrowth of all mesenchymal elements. The distribution in the lower extremities' plantar nerves and the upper extremity's median nerve is most commonly observed. This abnormality is congenital and typically manifests at birth or during the neonatal stage. This deformity begins to mechanically impair joint function, blood supply, and innervation as age advances. The findings from radiography include lucencies in the soft tissues and expansion of the digit's phalanges and soft tissue components, with predominantly distal component involvement. Herein, we present a case of a 20-year-old male from rural India who came to us with the complaint of abnormal asymmetrical swelling of bilateral hand fingers, which has been progressing since birth. Physical examination revealed a soft, non-fluctuant, non-pulsatile swelling with no associated trauma or injury. The clinical picture revealed disproportionate enlargement of phalanges in both hands.
一种罕见的局限性巨人症,称为脂肪性大发育异常,其特征是纤维脂肪组织不成比例地增加,所有间充质成分逐渐过度生长。最常观察到其在下肢足底神经和上肢正中神经的分布。这种异常是先天性的,通常在出生时或新生儿期出现。随着年龄的增长,这种畸形开始对关节功能、血液供应和神经支配造成机械性损害。X线检查结果包括软组织透亮区以及手指指骨和软组织成分的扩张,主要累及远端成分。在此,我们报告一例来自印度农村的20岁男性病例,他因双侧手指异常不对称肿胀前来就诊,这种肿胀自出生以来一直在进展。体格检查发现肿胀柔软,无波动感,无搏动,无相关创伤或损伤。临床检查显示双手手指指骨不成比例地增大。