IllnessBirt-Hogg-Dubé syndrome, differential diagnosis

NGS +

Birt-Hogg-Dubé syndrome (BHDS) is rare, affects the skin and lungs, and increases the risk of certain types of tumors. The symptoms vary in these patients. BHDS is characterized by a variety of benign skin tumors (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, epidermal cysts), particularly on the face, neck and upper chest. These growths typically first appear in the twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased risk of developing cysts in the lungs and pneumothorax. In addition, BHDS is associated with an increased risk of benign and/or malignant kidney tumors. Other cancers have also been reported in affected individuals. Mutations in the FLCN gene cause this disease with an autosomal dominant pattern. Molecular genetic diagnostic yield is high (~95%), but a negative DNA test result cannot formally exclude the clinical diagnosis.

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

• Birt-Hogg-Dube syndrome (FLCN)
• Alias: Fibrofolliculomas with trichodiscomas + acrochordons
• Alias: Hornstein-Knickenberg-Syndrom (FLCN)
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• 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: Erythrocytosis, familial, 2 (VHL)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
• Allelic: Fumarase deficiency (FH)
• Allelic: Gastrointestinal stromal tumor (SDHB, SDHC)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
• Allelic: Hemorrhagic diathesis due to antithrombin Pittsburgh (SERPINA1)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Leigh syndrome (SDHA)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: MASS syndrome (FBN1)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Meningioma (PTEN)
• Allelic: Mitochondrial complex II deficiency (SDHD)
• Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA)
• Allelic: Osteofibrous dysplasia, susceptibility to (MET)
• Allelic: Pancreatitis, hereditary (CFTR)
• Allelic: Pheochromocytoma (SDHB, SDHD, VHL)
• Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Allelic: von Hippel-Lindau syndrome (VHL)
• Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
• Brooke-Spiegler syndrome (CYLD)
• Carcinoid tumor of lung (MEN1)
• Cowden syndrome 1 (PTEN)
• Cylindromatosis, familial (CYLD)
• Cystic fibrosis (CFTR)
• Deafness, AR 97 (MET)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Emphysema due to AAT deficiency (SERPINA1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
• Leiomyomatosis + renal cell cancer (FH)
• Lhermitte-Duclos syndrome (PTEN)
• Marfan syndrome (FBN1)
• Multiple endocrine neoplasia 1 (MEN1)
• Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Pheochromocytoma, susceptibility to (MAX, TMEM127)
• Pneumothorax, primary spontaneous (FLCN)
• Renal carcinoma, chromophobe, somatic (FLCN)
• Renal cell carcinoma, papillary, 1, familial + somatic (MET)
• Renal cell carcinoma, somatic (VHL)
• Trichoepithelioma, multiple familial, 1 (CYLD)
• Tuberous sclerosis-1, -2 (TSC1, TSC2)
• Tumor predisposition syndrome (BAP1)