Background: Goltz syndrome is a rare, genetic disorder mainly occurring in female patients.
Case presentation: 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.
Conclusion: 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.
Keywords: Emphysema; Goltz syndrome; Lung disease.