Axillary and inguinal freckling Diffuse hyperpigmentation Diffuse or generalized hyperpigmentation is not well characterized, but often it is noticed by an astute physician or family member. Hypopigmentation can occur in patients with NF-1. Abnormalities of CNS development are common. Similarly functional problems often are noted, and, of course, benign and malignant tumors of the CNS occur at a greatly increased incidence in NF-1. Skeletal involvement Progressive kyphoscoliosis May lead to paraparesis without intervention.
Short stature is very common.
Reports of associations with other soft tissue tumors Ophthalmic involvement Lisch nodules are the most common type of ocular involvement in NF-1. No specific causes for sporadic mutations have been identified. Tissue biopsy of skin lesions is occasionally necessary to confirm the diagnosis of NF-1. Plain film imaging of long bones can reveal the metaphyseal and the diaphyseal bone defects when present. Lytic lesions of bones due to adjacent neurofibromas also can be detected radiologically.