Pulmonary manifestations in tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Pulmonary manifestations of tuberous sclerosis in first degree relatives.
In a family with tuberous sclerosis affecting four generations a mother and daughter had the rare pulmonary manifestations of the disease. Pathologically the pulmonary disease may be the same as pulmonary lymphangioleiomyomatosis.
متن کاملCutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediat...
متن کاملPulmonary involvement in tuberous sclerosis complex: presentation of a case.
A clinical case of a pulmonary involvement in Tuberous Sclerosis Complex is reported. This rare involvement (1%) is characterized by either interstitial disease or bullae; therefore, pneumothorax is likely to happen in lung parenchyma. Furthermore this complication induces a progressive serious respiratory failure until the death of the patient.
متن کاملThe tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...
متن کاملTuberous sclerosis complex.
Contrast enhanced computed tomography revealed a large well-circumscribed heterogenous retroperitoneal mass measuring 25 × 20 cm arising from the left kidney with predominant fat attenuation. Multiple smaller lesions were seen in the opposite kidney. Features were suggestive of diffuse angiomyolipomatosis of the kidneys. Hypodense lesions were also seen involving the lungslymphangioleiomyomatos...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2018
ISSN: 1552-4868,1552-4876
DOI: 10.1002/ajmg.c.31638