Elephantiasis Neuromatosa in Neurofibromatosis Type I Mimicking Venocapillary Malformation

International Journal of Anatomy Radiology and Surgery

PRANAV KUMAR SANTHALIA¹  SUBHASH KUMAR²  S APARNA³  PREM KUMAR⁴  RISHIKANT SINHA⁵ 

[1] Assistant Professor, Department of Radiodiagnosis, AIIMS, Patna, Bihar, India.;Associate Professor, Department of Radiodiagnosis, AIIMS, Patna, Bihar, India.;Junior Resident (Academics), Department of Radiodiagnosis, AIIMS, Patna, Bihar, India.;Professor and Head, Department of Radiodiagnosis, AIIMS, Patna, Bihar, India.;Senior Resident, Department of Radiodiagnosis, AIIMS, Patna, Bihar, India.;

关键词: gigantism;    hypervascular neurofibroma;    haemangioneurofibroma neurocutaneous syndrome;   

DOI  :  10.7860/IJARS/2019/41182:2501

来源: DOAJ

【 摘 要 】

Elephantiasis neuromatosa is a rare clinical manifestation associated with the Neurofibromatosis Type 1 (NF1). A 14-year-old male presented with progressive non-tender swelling of left arm and forearm since birth, axillary freckling, café-au-lait macules and lisch nodules in left iris on slit lamp. X-ray, USG and MRI showed abnormality involving areas of the subcutaneous tissue, superficial and deep muscles and underlying bones of left arm and forearm with diffuse hypertrophy of subcutaneous fat with fatty and fibrotic tissue. Multiple vascular structures were seen throughout the arm and forearm with dilated subcutaneous, superficial and deep veins without evidence of arterial feeders. Possibility of diffuse neurofibroma or veno-capillary malformation was given. USG guided TRUcut biopsy confirmed neurofibroma.

【 授权许可】

Unknown