特纳综合征与真菌病并存的罕见病例报告:病例报告

IF 1.5 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, Sule Ozturk Sari, Can Baykal, Asli Derya Kardelen Al, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler
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引用次数: 0

摘要

特纳综合征(TS)是女性中最常见的性染色体异常,其特点是身材矮小、性腺功能低下、先天性心脏异常以及患自身免疫性疾病的风险增加。虽然 TS 通常不会增加罹患恶性肿瘤的绝对风险,但某些特定癌症,如影响神经系统和胃肠道的癌症以及恶性黑色素瘤,可能会更频繁地发生。真菌病(MF)是原发性皮肤 T 细胞淋巴瘤中最常见的一种,通常影响成年人,但也见于儿童和青少年。我们报告了一名患有TS的11.2岁女孩,她表现为体重大幅增加和身材矮小。临床检查显示了TS的特征,核型分析证实了镶嵌型TS。在接受生长激素(GH)治疗后,患者出现了持续、红斑、瘙痒的皮损,诊断为 CD4+ MF。停止生长激素治疗后,外用类固醇药物有效控制了皮损。TS 中的 MF 罕见且意外,尤其是在儿童中。这些疾病的同时存在表明,TS 与 MF 风险增加之间存在潜在联系,这可能是由于 T 细胞失调或自身免疫过程所致。虽然骨髓纤维瘤的临床病程通常比较缓慢,但建议对 TS 患者进行仔细监测并每年进行皮肤病学评估,尤其是在出现皮损时。这是首例报告的TS患儿MF病例。该病例强调了仔细评估 TS 患者皮肤病变的重要性,并建议将 MF 作为鉴别诊断之一。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report.

Turner syndrome (TS) is the most common sex chromosome abnormality among females, characterised by short stature, hypergonadotropic hypogonadism, congenital heart anomalies, and an increased risk of autoimmune diseases. Although TS does not typically increase the absolute risk of malignancy, specific cancers, such as those affecting the nervous system and gastrointestinal tract and malignant melanoma, may occur more frequently. Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphoma, typically affecting adults but also seen in children and adolescents. We report an 11.2-year-old girl with TS presenting with substantial weight gain and short stature. Clinical examination revealed characteristic TS features and karyotype analysis confirmed mosaic TS. Following growth hormone (GH) therapy, the patient developed persistent, erythematous, itchy skin lesions diagnosed as CD4+ MF. GH therapy was discontinued, and topical steroids controlled the skin lesions effectively. MF in TS is rare and unexpected, especially in a child. The coexistence of these conditions suggests a potential link between TS and an increased risk of MF, possibly due to T-cell dysregulation or autoimmune processes. While the clinical course of MF is typically indolent, careful monitoring and annual dermatologic evaluations are recommended for TS patients, particularly when skin lesions are present. This is the first reported case of MF in a child with TS. This case emphasises the importance of carefully evaluating skin lesions in patients with TS and suggests considering MF as a differential diagnosis.

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来源期刊
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-PEDIATRICS
CiteScore
3.60
自引率
5.30%
发文量
73
审稿时长
20 weeks
期刊介绍: The Journal of Clinical Research in Pediatric Endocrinology (JCRPE) publishes original research articles, reviews, short communications, letters, case reports and other special features related to the field of pediatric endocrinology. JCRPE is published in English by the Turkish Pediatric Endocrinology and Diabetes Society quarterly (March, June, September, December). The target audience is physicians, researchers and other healthcare professionals in all areas of pediatric endocrinology.
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