IllnessPneumothorax, familial; differential diagnosis

NGS +

[Sanger]

Primary spontaneous pneumothorax occurs without the presence of lung disease, but can result in partial or complete collapse of a lung. This form of pneumothorax is likely due to the formation of small alveoli blebs that burst and allow air to enter the pleural space. The blebs can remain asymptomatic for a long time before they rupture, e.g. due to a deep breath. Mutations in FLCN can trigger the development of blebs, although the cause often remains unknown. Rapid growth of the chest during growth spurts may increase the likelihood of blebs formation, although long-term smoking is certainly the main cause. When the disease is caused by mutations in the FLCN gene, it is inherited in an autosomal dominant manner. FLCN mutations may also be the basis of Birt-Hogg-Dubé syndrome with multiple skin manifestations such as epidermal cysts, various types of renal tumors and pulmonary blebs and pneumothorax in the history. The differential diagnosis of genetic spontaneous pneumothorax also includes mutations in a number of other genes, usually with autosomal dominant inheritance. Yet the molecular genetic yield remains low, and clinical diagnosis cannot be ruled out by DNA testing.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1522/

• Alias: (Primary) spontaneous pneumothorax
• Alias: Pulmonary emphysema
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
• Allelic: Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Colorectal cancer, somatic (FLCN)
• Allelic: Congenital bilateral absence of vas deferens (CFTR)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Emphysema-cirrhosis, due to AAT deficiency (SERPINA1)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Hemorrhagic diathesis due to antithrombin Pittsburgh (SERPINA1)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: MASS syndrome (FBN1)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Pancreatitis, hereditary (CFTR)
• Allelic: Polymicrogyria with or without vascular-type EDS (COL3A1)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Birt-Hogg-Dube syndrome (FLCN)
• Cystic fibrosis (CFTR)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Emphysema due to AAT deficiency (SERPINA1)
• Emphysema due to AAT deficiency, included
• Emphysema-cirrhosis, due to AAT deficiency, included
• Familial spontaneous pneumothorax
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Loeys-Dietz syndrome 5 (TGFB3)
• Lymphangioleiomyomatosis, included
• Marfan syndrome (FBN1)
• Marfan syndrome, included
• Pleuropulmonary blastoma (DICER1)
• Pneumothorax, primary spontaneous (FLCN)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)