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青少年透明纤维瘤病(JHF):一例复发的罕见病例。

Juvenile Hyaline Fibromatosis (JHF): A Rare Case with Recurrence.

作者信息

M V Rashmi, J P Geetha, Arava Srinivas, B Niranjana Murthy, C R Kodandaswamy

机构信息

Associate Professors, Department of Pathology, Sri Siddhartha Medical College , Tumkur, Karnataka, India .

Professor, Department of Surgery, Sri Siddhartha Medical College , Tumkur, Karnataka, India .

出版信息

J Clin Diagn Res. 2014 Feb;8(2):161-2. doi: 10.7860/JCDR/2014/7637.4043. Epub 2014 Feb 3.

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease. Less than 70 cases of JHF have been reported worldwide and extremely few from India. We present a case of 4-year-old girl who presented with multiple painless nodular masses on the scalp. On fine needle aspiration cytology, a diagnosis of benign spindle cell lesion was provided, the scalp lesions were excised and on histopathology the diagnosis of JHF was made. Retrospectively, the cytology slides were reviewed and the features were consistent with the diagnosis. A diagnosis of JHF was made based on the classical clinical features, Fine Needle Aspiration Cytology (FNAC) findings and the characteristic histopathological features along with a supportive evidence based on special stains. However, the patient had a recurrence within two years. Hence, we present this rare case with recurrence.

摘要

青少年透明纤维瘤病(JHF)是一种罕见的常染色体隐性疾病。全球报道的JHF病例不到70例,印度的病例极少。我们报告一例4岁女童,头皮出现多个无痛性结节状肿块。细针穿刺细胞学检查诊断为良性梭形细胞病变,切除头皮病变,组织病理学诊断为JHF。回顾性地复查细胞学玻片,其特征与诊断相符。根据典型的临床特征、细针穿刺细胞学检查(FNAC)结果、特征性组织病理学特征以及特殊染色的支持证据,做出了JHF的诊断。然而,该患者在两年内复发。因此,我们呈现这例伴有复发的罕见病例。

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