患有外胚层发育不全的青少年面部皮脂腺增生症。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2024-09-08 DOI:10.1111/pde.15751

Elena Lucía Pinto-Pulido, Lucero Noguera-Morel, Isabel Colmenero, Antonio Torrelo, Ángela Hernández-Martín

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引用次数: 0

摘要

我们报告了一名 13 岁男孩的病例，他被诊断为因外胚层发育蛋白 A（EDA）的致病变异而导致的多汗症性外胚层发育不良（HED）。他的鼻翼、前额、颞部和颧弓部位出现多发性白色、毫米大小的丘疹。组织学检查显示，真皮层上部有许多增生的皮脂腺小叶。在 HED 患者中出现这种分布的皮脂腺丘疹很少见报道。有人推测这与 EDA 功能失常导致 Wnt/β-catenin 通路受阻有关。

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Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.

We report on a 13-year-old boy diagnosed with hypohidrotic ectodermal dysplasia (HED) due to a pathogenic variant in ectodysplasin A (EDA). He exhibited multiple whitish, millimetric papules clustered on the nasal ala, forehead, temporal, and zygomatic arch areas. Histological examination revealed numerous hyperplastic sebaceous lobules within the upper dermis. The occurrence of sebaceous papules in this distribution among HED patients has rarely been reported. An association with the blockage of the Wnt/β-catenin pathway due to EDA malfunction has been speculated.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.