Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome

Mattioli1885 - Tập 11 - Trang 1-3 - 2016
Rosaria Cortese1, Salvatore Savasta2, Silvia Di Stasi1, Tiziana Boggini2, Chiara Trabatti2, Roberto Dore3, Giulia Maria Stella1
1Cardiothoracic Department, Section of Pneumology, IRCCS Policlinico San Matteo, Pavia, Italy
2Department of Pediatrics, IRCCS Policlinico San Matteo, Pavia, Italy
3Unit of Radiology, IRCCS Policlinico San Matteo, Pavia, Italy

Tóm tắt

Goltz syndrome is a rare, genetic disorder mainly occurring in female patients. The case presented here is, to the best of our knowledge, the first description of the occurrence of lung parenchymal alterations in a young female patient affected by Goltz syndrome. Although pulmonary involvement is not known in patients affected by X-linked Goltz syndrome, the case here described is related to the even rarer autosomal form of the disease, as in this case. It is thus conceivable that in such different genetic setting the involvement of lung parenchyma may be unveiled through atypical emphysematous lesions. This report suggested - for the first time time - a rationale for a lung function and imaging screening in patients affected by Goltz syndrome at least in its autosomal form.

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