Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis

Frontiers in Pediatrics

Pediatrics

Maha Younes¹  Matthew Edwards¹  Fiona Price-Kuehne²  Ebun Omoyinmi²  Paul Brogan³  Despina Eleftheriou³ 

[1] Clinical Genetics and Genomics Laboratory, Royal Brompton Hospital, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom;University College London Great Ormond Street Institute of Child Health, London, United Kingdom;University College London Great Ormond Street Institute of Child Health, London, United Kingdom;Rheumatology Department, Great Ormond Street Hospital NHS Foundations Trust, London, United Kingdom;

关键词: marfan syndrome;    FBN1;    vasculitis;    skin rash;    aortic dilatation;   

DOI  :  10.3389/fped.2023.1205255

 received in 2023-04-13, accepted in 2023-05-30,  发布年份 2023

来源: Frontiers

【 摘 要 】

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by variants in the extracellular microfibril fibrillin (FBN1) gene. Here we report an FBN1 variant in a child with an unusual skin rash mimicking cutaneous vasculitis, and mild aortic root dilatation. The case was complicated by lack of typical skeletal MFS phenotype; and severe needle phobia preventing any blood testing for workup of suspected vasculitis. Therefore inflammatory markers, autoantibody profile and general hematology/biochemistry results were unknown. Diagnosis of MFS was made via genetic testing of a saliva sample alone using a next-generation sequencing (NGS) targeted gene panel designed to screen for monogenic forms of vasculitis and noninflammatory vasculopathic mimics. This revealed the patient was heterozygous for a pathogenic frameshift variant in FBN1; NM_000138, c.1211delC, p.(Pro404Hisfs*44), predicted to cause premature protein truncation leading to loss of function. The variant has not been detected in control populations and has previously been detected in individuals with MFS. This rapid diagnosis significantly impacted the patient management: avoidance of invasive investigations; avoidance of unnecessary immunosuppression; facilitating genetic counselling of the index case and family; and directly informing lifelong monitoring and ongoing treatment for aortic root involvement from MFS. This case further emphasizes the diagnostic utility of NGS early in the diagnostic workup of paediatric patients referred with suspected vasculitis, and we emphasize that MFS can present with cutaneous vasculitic-like features in the absence of the typical Marfanoid skeletal phenotype.

【 授权许可】

Unknown   
© 2023 Price-Kuehne, Omoyinmi, Younes, Edwards, Eleftheriou and Brogan.