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先天性和新生儿皮肤疾病:组织病理学诊断与综合征关联

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

作者信息

Qasim Hussein, Abu Shugaer Mohammad, Khattab Karis, Leoni Matteo Luigi Giuseppe, Varrassi Giustino

机构信息

Department of Pathology and Laboratory Medicine, Jordan University of Science and Technology, Irbid, JOR.

Faculty of Medicine, Yarmouk University, Irbid, JOR.

出版信息

Cureus. 2025 Aug 14;17(8):e90102. doi: 10.7759/cureus.90102. eCollection 2025 Aug.

DOI:10.7759/cureus.90102
PMID:40951034
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12433312/
Abstract

Congenital and neonatal skin disorders encompass a broad spectrum of conditions ranging from transient benign rashes to severe genodermatoses and multisystem syndromes. Accurate diagnosis in the newborn period is critical, as cutaneous findings may be the earliest clue to underlying genetic, infectious, or systemic diseases. A comprehensive literature review was performed, drawing from up-to-date peer-reviewed studies, landmark dermatology and pathology reviews, and authoritative texts. Key information on clinical presentation, histology, and syndromic associations was extracted and synthesized. Congenital skin disorders often reflect disruptions in embryologic development or genetic mutations in skin structural proteins. Histopathological examination remains a cornerstone of diagnosis, revealing characteristic patterns (e.g., level of blister cleavage in epidermolysis bullosa, epidermolytic hyperkeratosis in ichthyoses, and eosinophilic spongiosis in incontinentia pigmenti). Many disorders form part of broader syndromes with distinctive cutaneous and systemic features. Recent advances in immunofluorescence mapping and genetic testing have improved diagnostic precision, while emerging therapies (e.g., gene therapy) hold promise for conditions previously managed only supportively. The care of neonates with skin disorders requires a multidisciplinary approach combining clinical evaluation, histopathology, and genetic insights. Early recognition of telltale skin findings and their syndromic context can guide timely interventions, genetic counseling, and anticipatory management of associated complications. Future developments in molecular diagnostics and targeted therapies are poised to further enhance outcomes in this vulnerable patient population.

摘要

先天性和新生儿皮肤疾病涵盖了广泛的病症,从短暂的良性皮疹到严重的遗传性皮肤病和多系统综合征。在新生儿期进行准确诊断至关重要,因为皮肤表现可能是潜在遗传、感染或全身性疾病的最早线索。我们进行了全面的文献综述,参考了最新的同行评审研究、具有里程碑意义的皮肤病学和病理学综述以及权威著作。提取并综合了有关临床表现、组织学和综合征关联的关键信息。先天性皮肤疾病通常反映胚胎发育的中断或皮肤结构蛋白的基因突变。组织病理学检查仍然是诊断的基石,可揭示特征性模式(例如,大疱性表皮松解症中的水疱分裂水平、鱼鳞病中的表皮松解性角化过度以及色素失禁症中的嗜酸性海绵形成)。许多疾病是具有独特皮肤和全身特征的更广泛综合征的一部分。免疫荧光图谱和基因检测的最新进展提高了诊断的准确性,而新兴疗法(如基因疗法)为以前仅进行支持性治疗的病症带来了希望。对患有皮肤疾病的新生儿的护理需要多学科方法,结合临床评估、组织病理学和遗传学见解。早期识别典型的皮肤表现及其综合征背景可以指导及时干预、遗传咨询以及对相关并发症的预期管理。分子诊断和靶向治疗的未来发展有望进一步改善这一脆弱患者群体的治疗结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce96/12433312/718f6a89361f/cureus-0017-00000090102-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce96/12433312/718f6a89361f/cureus-0017-00000090102-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce96/12433312/718f6a89361f/cureus-0017-00000090102-i01.jpg

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