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The presence of ash-leaf spots
15%
47/315
Astrocytomas
12%
39/315
Facial angiofibromas
16%
49/315
Iris hamartomas
50%
157/315
A white tuft of scalp hair since birth
5%
15/315
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The images depict café-au-lait spots and axillary freckling, characteristic for neurofibromatosis (NF) type 1. NF1 is also commonly associated with iris hamartomas. NF1 is a neurocutaneous disorder which results from a mutated NF-1 gene on chromosome 17. NF1 is associated with widely distributed neurofibromas. It is also associated with café-au-lait spots (figure A), axillary or groin freckling (figure B), iris hamartomas, and optic gliomas. The presence of café-au-lait spots or axillary/groin freckling should prompt a search for other features of NF1. If suspected, patients need referral to an ophthalmologist to be examined for optic gliomas or iris hamartomas. Figure A depicts characteristic cafe-au-lait spots. Figure B depicts axillary freckling. Illustration A depicts characteristic neurofibromas on an arm, as would be seen in NF1. Incorrect answers: Answer 1-3,5: These represent findings that would be characteristic for a patient with tuberous sclerosis, a multisystem disease that classically involved the triad of congenital hypopigmented macules, seizures, and mental retardation.
3.8
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