Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

被引：0

作者：

Anthony Vandersteen

Jess Turnbull

Wajanat Jan

John Simpson

Sebastian Lucas

David Anderson

Jean-Pierre Lin

Constantine Stratakis

Gabriella Pichert

Ming Lim

机构：

[1] Guy’s and St. Thomas’ NHS Foundation Trust,Department of Clinical Genetics

[2] Lewisham Hospital NHS Trust,Department of Paediatrics

[3] Guy’s and St. Thomas’ NHS Foundation Trust,Department of Radiology

[4] Guy’s and St. Thomas’ NHS Foundation Trust,Department of Paediatric Cardiology

[5] Guy’s and St. Thomas’ NHS Foundation Trust,Department of Histology

[6] Guy’s and St. Thomas’ NHS Foundation Trust,Department of Cardio

[7] Guy’s & St Thomas’ NHS Foundation Trust,thoracic Surgery

[8] National Institute of Child Health and Human Development,Department of Paediatric Neurology, Evelina Children’s Hospital

[9] National Institutes of Health,Department of Pediatric Endocrinology and Genetics

来源：

European Journal of Pediatrics | 2009年 / 168卷

关键词：

Carney complex; Stroke; Atrial myxoma; Cutaneous lentiginosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.

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