The differential diagnosis should include
A) Hypothyroidism
B) Addison’s disease
C) Multiple sclerosis
D) Neurofibromatosis
E) Gardner’s syndrome
Answer:
D) Neurofibromatosis
Discussion: Neurofibromatosis is also referred to as von Recklinghausen’s disease. It is associated with autosomal-dominant inheritance and is characterized by multiple, macular, pigmented skin lesions called café au lait spots and skin tumors called neurofibromas.
Axillary or inguinal freckling (Crowe’s sign) is considered to be pathognomonic for neurofibromatosis.
Ocular lesions (Lisch nodules) are asymptomatic, pigmented iris hamartomas that are seen in 80% of cases.
The disease has been associated with defects on chromosomes 17 and 22.
Neurofibromas may cause neurologic symptoms. Seizures, paraplegia, and mental retardation may occur secondary to the condition.
Treatment consists of surgical removal of symptomatic or disfiguring lesions. Patients should be monitored for the development of neurofibrosarcomas, optic gliomas, acoustic neuromas, and pheochromocytomas. Those who are affected should also receive genetic counseling.
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