一例哈特派新生儿局限性皮肤病：诊断和创造性的皮肤管理。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2024-07-04 DOI:10.1111/pde.15681

Jesse Grist, Rebecca Green, Abhay Lodha, Charlene Hunter, Katherine Lach, Thuy Phung, Renee Perrier, Michele Ramien

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引用次数: 0

摘要

限制性皮肤病是一种致命的常染色体隐性遗传病，其特征是皮肤紧密粘连、独特的面部畸形、关节发育不良和肺发育不全。虽然临床表现独特，但组织病理学和遗传学分析对于早期确诊和对这种致命疾病进行适当治疗至关重要。我们报告了一名早产哈特派男性新生儿的双链ZMPSTE24突变情况，以突出局限性皮肤病的临床和组织病理学特征，并分享我们以皮肤为导向的管理策略。

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A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.

Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with biallelic ZMPSTE24 mutations to highlight the clinical and histopathological features of restrictive dermopathy and share our skin-directed management strategies.

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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.