Clinical case of alopecia totalis in pediatric practice

Q4 Medicine
O. Stroi, Т.А. Кyian, N. Balatska, L. Levadna, G.E. Kozynkevych
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Abstract

Alopecia (baldness) is a pathological hair loss. A chronic relapsing course leads to a violation of the emotional sphere of the child, worsens the quality of life. Alopecia is considered autoimmune, since it is characterized by hair loss due to lymphocytic infiltration around the hair follicles. It can be secondary as a result of infectious and inflammatory processes. Purpose - is to conduct own clinical observation of a child with total alopecia to increase the awareness of doctors about this pathology in children. Clinical case. The article presents a clinical case of total alopecia in an 11-year-old child. It is known from the anamnesis that in 9 months the child began to lose hair on his head, at 2 years old - eyebrows and eyelashes, at 3 years old he was diagnosed with total alopecia. The patient had a complex clinical and laboratory examination with the involvement of a multidisciplinary team, since alopecia can occur under the mask of autoimmune diseases and immunodeficiencies. Total alopecia, atopic dermatitis, changes in immunological status in the anamnesis, cases of early mortality among family members, as well as a history of alopecia areata in the father gave us reason to suspect a genetic disease in the patient, including autoimmune polyendocrinopathy candidiasis-ectodermal dystophia (APECED syndrome) with mutation in the AIRE gene. Conclusions. For verification the diagnosis and choose a treatment strategy, the patient needs an additional examination: sequencing of the relevant locus of the AIRE gene to detect mutations characteristic of APECED syndrome, as well as a serological test to detect the titer of antibodies to Candida and a puncture biopsy of the scalp. Considering the above, the prognosis for recovery is unfavorable. The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of parents was obtained for the study. No conflict of interests was declared by the authors.
小儿全秃临床一例
脱发是一种病理性脱发。长期复发会侵犯孩子的情感范围,恶化生活质量。脱发被认为是自身免疫性的,因为它的特点是毛囊周围的淋巴细胞浸润导致脱发。由于感染和炎症过程,它可能是继发性的。目的是对一名患有完全脱发的儿童进行自己的临床观察,以提高医生对儿童这种病理学的认识。临床病例。本文介绍一例11岁儿童完全性脱发的临床病例。从记忆中可以知道,在9个月后,孩子在2岁时开始脱发——眉毛和睫毛,3岁时被诊断为完全脱发。该患者在多学科团队的参与下进行了复杂的临床和实验室检查,因为脱发可能是在自身免疫性疾病和免疫缺陷的掩盖下发生的。完全性脱发、特应性皮炎、记忆中免疫状态的变化、家庭成员早期死亡的病例,以及父亲有斑秃病史,这些都让我们有理由怀疑患者患有遗传性疾病,包括AIRE基因突变的自身免疫性多endoclindopathy candiosis extordermal neophia(APCED综合征)。结论。为了验证诊断和选择治疗策略,患者需要进行额外的检查:对AIRE基因的相关基因座进行测序,以检测APCED综合征的突变特征,并进行血清学检测,以检测念珠菌抗体的滴度和头皮穿刺活检。考虑到以上情况,康复的预后是不利的。这项研究是根据《赫尔辛基宣言》的原则进行的。研究获得了家长的知情同意。提交人没有宣布任何利益冲突。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Suchasna pediatriia Ukrayina
Suchasna pediatriia Ukrayina Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.40
自引率
0.00%
发文量
50
审稿时长
8 weeks
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