Neurofibromatosis type I, or von Recklinghausen disease, is a autosomal dominant disorder affecting the mesodermal and neuroectodermal tissues. Fifty percent of cases are due to spontaneous mutations. The incidence is 1 in 2,000 to 4,000 births. This is most common phakomatosis.

Clinically, neurofibromas, cafe au lait spots, axillary/inguinal freckling, Lisch nodules (iris hamartomas), and osseous lesions are observed. A sharp angled scoliosis is characteristic of the disease, causing dwarfism. On occasion, the disease may produce a shortened limb due to bowing and pseudarthrosis, focal gigantism is more common, due to overgrowth of an ossification center, causing marked enlargement of a digit in the hand or foot.

Treatment consists of scoliosis management. Usually, the scoliosis is refractory to bracing, and fusion may be required.

REFERENCES

• Liebermann F, Korf BR. Emerging approaches toward the treatment of neurofibromatoses. Genet Med. 1999 May-Jun;1(4):158-64; quiz 165-6.
• Parada LF. Neurofibromatosis type 1. Biochim Biophys Acta. 2000 Jul 31;1471(1):M13-9.

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