Abstract
Familial idiopathic pulmonary fibrosis (IPF) is a very rare and progressively fatal disease. Its pathogenesis is not fully understood and involves damage to alveolar epithelial cells of possibly immunological, microbiological or chemical origin, leading to fibrosing healing. A genetic predisposition has been demonstrated. The authors report the case of a female patient whose brother died at the age of 29 from IPF. She had epidermodysplasia verruciformis since childhood, with the absence of pubertal development. At the age of 31, she presented diffuse interstitial pneumonia. A lung biopsy confirmed the diagnosis of IPF. Endocrine explorations detected hypogonadotropic hypogonadism, primary hypothyroidism and magnetic resonance imaging revealed an empty sella turcica. The association of familial IPF, autoimmune polyendocrinopathy and genetic dermatosis caused by a cellular immune deficiency supports the hypothesis of an immune dysfunction in the pathogenesis of IPF.
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