Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome.
BACKGROUND
Goltz syndrome is a rare, genetic disorder mainly occurring in female patients.


METHODS
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.


CONCLUSIONS
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.
Cardiothoracic Department, Section of Pneumology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Rosaria
R
Cortese
Department of Pediatrics, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Salvatore
S
Savasta
Cardiothoracic Department, Section of Pneumology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Silvia
S
Di Stasi
Department of Pediatrics, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Tiziana
T
Boggini
Department of Pediatrics, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Chiara
C
Trabatti
Unit of Radiology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Roberto
R
Dore
Cardiothoracic Department, Section of Pneumology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Giulia Maria
GM
Stella
Emphysema; Goltz syndrome; Lung disease