Bronchoalveolar disease in dyskeratosis congenita.
Dyskeratosis congenita (DC) is an unusual familial disorder primarily affecting the skin and its appendages. We report the case of a DC patient with chronic respiratory tract involvement, confirming the features previously reported by a small number of authors: 1) chronic bronchoalveolar involvement is not unusual in this disorder; 2) the main features are early sputum production with subsequent bronchial and alveolar destruction; 3) after onset of dyspnoea the course is rapidly fatal, with progressive respiratory failure. Immune deficiency and repeated bronchoalveolar infections may be involved in the pathogenesis of these manifestations.
Verra
F
F
INSERM unit 139, Centre Hospitalier Intercommunal, Creteil, France.
Kouzan
S
S
Saiag
P
P
Bignon
J
J
de Cremoux
H
H
D000328:Adult; D001855:Bone Marrow Diseases / Q000235:genetics*; D001987:Bronchiectasis / Q000150:complications*; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*; D011658:Pulmonary Fibrosis / Q000150:complications*