Marfan's syndrome is associated with what ocular pathology?
Subluxation of the lenses
What is the inheritance pattern of multiple endocrine neoplasias?
These syndromes are inherited in an autosomal dominant fashion
How many syndromes are considered multiple endocrine neoplasias?
Three, known as MEN I, MEN II, and MEN III
Name 5 endocrine organs that develop tumors in the multiple endocrine neoplasia syndromes.
Pancreas, pituitary, parathyroid, thyroid, and adrenal medulla
Which gene mutation causes multiple endocrine neoplasias 2A and 2B?
A tall male patient enters the emergency room with the combination of a dissecting ascending aorta and acute mitral valve prolapse; what disorder might explain these findings?
Marfan's syndrome is associated with cystic medial necrosis of the aorta which may lead to a dissection, as well as a floppy mitral valve prone to prolapse
What is the mode of inheritance of neurofibromatosis type 1?
What is another name for neurofibromatosis type 1?
von Recklinghausen;s disease
Neurofibromatosis type 1 (von Recklinghausen's disease) is associated with a mutation on which chromosome?
Chromosome 17 (remember: there are 17 letters in von Recklinghausen)
A patient has caf-au-lait spots, Lisch nodules, scoliosis, neural tumors, and pheochromocytoma. What is the most likely diagnosis?
Neurofibromatosis type 1 (von Recklinghausen's disease)
What is another term for the pigmented iris hamartomas associated with neurofibromatosis?
What are the dermatologic findings in neurofibromatosis type 1?
Caf au lait spots and axillary freckling
What neoplasms are associated with neurofibromatosis type 1?
Neural tumors, optic pathway gliomas, pheochromocytoma, and overall increased tumor susceptibility
What is the mode of inheritance for neurofibromatosis type 2?
A patient has bilateral acoustic neuroma, optic pathway gliomas, and juvenile cataracts. What is the most likely diagnosis?
Neurofibromatosis type 2
True or False? Neurofibromatosis type 2 is associated with skin findings that are similar to those of neurofibromatosis type 1.
False; neurofibromatosis type 2 is not associated with abnormal skin findings
Neurofibromatosis type 2 is a result of a mutation in the gene _____ found on chromosome _____.
NF2, 22 (remember: Type 2 = 22)
What is the mode of inheritance of tuberous sclerosis?
A patient has adenoma sebaceum on his face, ash leaf spots on his trunk, mental retardation, and seizures. What the most likely diagnosis?
What renal findings might distinguish a patient with tuberous sclerosis from a patient with adult polycystic kidney disease ?
While both will have renal cysts, tuberous sclerosis is associated with renal angiomyolipomas
What is a cardiac manifestation of tuberous sclerosis?
Compared to the general population, patients with tuberous sclerosis have an increased incidence of which brain tumor?
True or False? All patients who inherit the gene in tuberous sclerosis will display very similar signs and symptoms.
False; although autosomal dominant, this disease has incomplete penetrance and a variable presentation
What is the mode of inheritance of von Hippel-Lindau disease?
A patient has hemangioblastomas of the retina and cerebellum, as well as bilateral renal cell carcinoma. What is the most likely diagnosis?
von Hippel-Lindau disease