Snapshot A 3-year-old female presents with an abnormal "dark spot" in certain parts of the body. The mother reports that these spots began to develop sometime during the last year, but have progressively worsened. The mother also states that her husband has similar skin findings and a history of seizures. On exam, 7-8 uniformly hyperpigmented macules are noted on the chest, back, and buttock. There is freckling in the axilla and inguinal region. Introduction Neurofibromatosis type I (von Recklinghausen disease) most common type of neurofibromatosis autosomal dominant inheritance mutation in NF1 gene on chromosome 17 NF1 gene codes for neurofibromin tumor suppressor that inhibits ras activity via stimulating GTPase variable presentation Epidemiology ~50% of cases are inherited the rest are sporadic mutations overall risk of malignancy is increased Presentation Physical exam café-au-lait macules neurofibromas benign nerve sheath tumor Lisch nodule iris hamartoma optic pathway glioma axillary and inguinal freckling hypertension macrocephaly Evaluation Clinical diagnosis e.g., presence of café-au-lait macules, neurofibromas, Lisch nodules, freckling, etc Genetic analysis rarely indicated Differential Diagnosis Neurofibromatosis type II McCune-Albright syndrome MEN 2b Familial multiple café-au-lait spots Treatment Dependent on clinical manifestations e.g., surgical intervention for tumor excision Annual history and physical for children for adults, depends on disease severity Prognosis, Prevention, and Complications Prognosis increased mortality Prevention genetic counseling Complications increased lifetime cancer risk
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.NE.15.17) A 14-year-old boy presents as a new patient to your practice. While conducting your physical exam, you observe the findings depicted in Figures A and B. Which of the following additional findings would most likely be found in this patient? Tested Concept QID: 105017 FIGURES: A B Type & Select Correct Answer 1 The presence of ash-leaf spots 15% (22/149) 2 Astrocytomas 12% (18/149) 3 Facial angiofibromas 17% (25/149) 4 Iris hamartomas 50% (75/149) 5 A white tuft of scalp hair since birth 4% (6/149) M 2 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept (M1.NE.15.0) A 50-year-old male presents to the dermatologist for a large, soft, cutaneous nerve sheath tumor on his right eyelid resulting in a vision deficit. On physical exam, hyperpigmented macules and numerous other tumors can be seen across his body along with freckling in the inguinal and axillary areas (Figure A & B). His past medical history is significant for loss of vision in his left eye due to an optic glioma at the age of 20. His family history is notable for several members on his mother's side (grandmother, mother, uncle, and brother) having a similar presentation. Genome analysis reveals that the gene is located on chromosome 17. Which of the following genes is most likely mutated? Tested Concept QID: 107027 FIGURES: A B Type & Select Correct Answer 1 VHL 5% (4/82) 2 RB 0% (0/82) 3 NF-1 94% (77/82) 4 WT-1 1% (1/82) 5 BRCA-1 0% (0/82) M 2 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review tested concept (M1.NE.14.72) A 27-year-old Caucasian man presents for a routine visit to his primary care physician. He does not have any complaints at this time. On physical exam he is noted to have numerous firm, rubbery nodules of varying sizes on his back (see Figure A). He also has small darkly pigmented spots on his irises as well as a hyperpigmented, macular skin lesion measuring 3x5 cm on his right medial thigh. Which of the following is a complication of this patient's genetic condition? Tested Concept QID: 106525 FIGURES: A Type & Select Correct Answer 1 Bilateral acoustic schwannomas 23% (19/82) 2 Cardiac rhabdomyomas 6% (5/82) 3 Optic gliomas 60% (49/82) 4 Retinal hemangioblastomas 7% (6/82) 5 Renal angiomyolipomas 4% (3/82) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review tested concept