Internal Medicine

0521779407-15 CUNY1086/Karliner 0 521 77940 7 June 7, 2007 18:43

Neurofibromatosis Nevi and Pigmented Lesions 1047

Prognosis

■Majority (>60%) of NF-1 patients have mild forms of disease, lead

healthy and productive lives

■20% have problems that need correction

■20% have severe problems

■A progressive disorder; time, pregnancy, adolescence make it worse

■25–40% have learning disabilities

■5–10% have mental retardation

■LISTEN TO SPEECH, an early clue.

■Behavior problems

■Mean age of death is about 60

➣Due to malignancies and complications of neurofibromas

Manifestations Age of clinical expression

Caf ́e-au-lait macules Infancy to early childhood

Crowe’s sign Childhood

Neurofibromas Late childhood – adolescence – adulthood

Plexiform NF Infancy to adulthood

Lisch nodules Late childhood to adulthood

Optic path tumors Early childhood

Sphenoid wing dysplasia Infancy

Long-bone bowing Infancy

Scoliosis Childhood

Hypertension Childhood to adulthood

Learning disabilities early childhood to adolescence

Nerve sheath tumors Adolescence to adulthood

(adapted from Viskochil D. Management of Genetic Syndromes. 2nd

Ed. 2005. Wiley-Liss, Inc.)

NEVI AND PIGMENTED LESIONS

JEFFREY P. CALLEN, MD

history & physical

History

■Personal or family hx of melanoma, atypical moles or non-melanoma

skin cancer?

■A change in the mole

■“Newly” recognized mole