The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene
Masanori Kaji,
Ho Namkoong,
Shotaro Chubachi
et al.
Abstract:Background:
Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions. While cutis laxa has been linked to conditions like emphysema, asthma, and bronchiectasis, the specific pathological and radiological characteristics underlying pulmonary complications related to cutis laxa remain unclear.
Case presentation:
A 36-year-old woman, diagnosed with cutis laxa at birth, presented to… Show more
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