Bryan Zachary T, Missall Tricia A, Stieren Stacy, Siegfried Elaine, Burkemper Nicole M
Department of Dermatology, School of Medicine, Saint Louis University, St. Louis, Missouri.
Pediatr Dermatol. 2015 Jan-Feb;32(1):e23-8. doi: 10.1111/pde.12494. Epub 2014 Dec 16.
We report the case of a 2-year-old boy from a family with limited financial resources who presented with cutaneous abnormalities, a history of congenital heart defect, and a presumptive diagnosis of Noonan syndrome. Genetic testing had been deferred because of a lack of funds. Skin findings were characteristic of cardiofaciocutaneous syndrome, including keratosis pilaris, ichthyosis, sparse eyebrows, and multiple nevi. A biopsy of a perifollicular thick papule with background hyperpigmentation was obtained to further characterize the cutaneous findings. Clinical evaluation allowed rapid, cost-effective, specific diagnosis in this patient with a RASopathy-spectrum genetic disorder who did not have access to genetic testing. This time-honored clinical approach is adequate for providing information important for prognosis, follow-up, and counseling. We will also discuss available resources for genetic testing and specialized care for patients with RASopathies.
我们报告了一名来自经济资源有限家庭的2岁男孩的病例，该男孩出现皮肤异常、先天性心脏缺陷病史，初步诊断为努南综合征。由于资金短缺，基因检测被推迟。皮肤表现具有心脏颜面皮肤综合征的特征，包括毛发角化病、鱼鳞病、眉毛稀疏和多发性痣。对伴有背景色素沉着的毛囊周围厚丘疹进行活检，以进一步明确皮肤表现的特征。临床评估使得在这名无法进行基因检测的患有RAS病谱系遗传病的患者中能够快速、经济高效且准确地做出诊断。这种历史悠久的临床方法足以提供对预后、随访和咨询很重要的信息。我们还将讨论RAS病患者进行基因检测和获得专科护理的可用资源。
