Bronchiectasis in a Marfanoid: Diagnosis Beyond Marfans

Desai, Unnati; Kalamkar, Shailesh; Jm, Joshi

doi:10.5005/ijcdas-56-2-105

Cited by 4 publications

(2 citation statements)

References 6 publications

(5 reference statements)

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“…Classical HCU has several phenotypical features in common with Marfan syndrome, including dislocation of the lens; a tall, thin build with long limbs; arachnodactyly; and a pectus deformity of the chest. Pulmonary manifestations of HCU are generally rare; they have been reported in the form of primary spontaneous pneumothorax, massive pulmonary thromboembolism, and restrictive abnormalities due to scoliosis [ 5 ]. In addition to bronchiectasis, it has been reported in a few countable instances and postulated to be due to fibrillin degeneration [ 1 , 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…Pulmonary manifestations of HCU are generally rare; they have been reported in the form of primary spontaneous pneumothorax, massive pulmonary thromboembolism, and restrictive abnormalities due to scoliosis [ 5 ]. In addition to bronchiectasis, it has been reported in a few countable instances and postulated to be due to fibrillin degeneration [ 1 , 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria

Suliman¹,

Alamin²,

Hamza³

2023

Respiratory Medicine Case Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria

Suliman¹,

Alamin²,

Hamza³

2023

Respiratory Medicine Case Reports

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Vulnerability to Nontuberculous Mycobacterial Lung Disease or Systemic Infection Due to Genetic/Heritable Disorders

Chan¹

2018

Nontuberculous Mycobacterial Disease

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Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings

et al. 2021

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STAT1 gain-of-function (GOF) mutations are associated with a rare autosomal dominant immunodeficiency disorder with main clinical manifestations including chronic mucocutaneous candidiasis (CMC) and bronchiectasis. In addition, these patients show higher incidences of cerebral and extracerebral aneurysm, malignancies and various autoimmune conditions compared to the general population. Although previous publications have reported clinical findings in patients with STAT1 GOF mutation, they did not include histopathologic features. Herein, we describe the first case with detailed histologic findings in the lung of a 5-year-old patient with a de novo STAT1 GOF mutation, who presented with CMC and bronchiectasis. The biopsy showed severe bronchiolectasis with extensive airway dilatation and occasional disruptions. Peribronchiolar inflammation was not always present and evident mainly in areas of airway disruption; inflammation may have not been a main driver of the airway damage in this case. The airway dilatation often showed an interesting herniating pattern, possibly implying a connective tissue etiology. This case also demonstrates the diagnostic utility of whole exome sequencing as STAT1 GOF mutations are not detected by routine workup. The definitive diagnosis will lead to more specific treatments and increased surveillance for serious conditions, such as cerebral aneurysms and malignancies.

show abstract

Bronchiectasis in a Marfanoid: Diagnosis Beyond Marfans

Cited by 4 publications

References 6 publications

Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria

Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria

Vulnerability to Nontuberculous Mycobacterial Lung Disease or Systemic Infection Due to Genetic/Heritable Disorders

Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings

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