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SEGMENTAL NEUROFIBROMATOSIS (SNF) IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS (C-A-YA)
Objectives: To study the clinical features, improve recognition, and discuss the clinical implication of SNF.
Methods: All cases of SNF under age 30, seen at the Cleveland Clinic Foundation between 1990–2005 were reviewed (51). A literature search for cases of SNF between 1984–2005 was undertaken. Patients were separated into those <30 years (58) and >30 years (53).
Results: A total of 162 patients were analyzed <30 years (109), >30 years (53). M/F ratio and side effectes were not significantly different. All races were affected. At least 13 cases were bilateral/segmental. The trunk was most commonly involved, followed by the arm, leg, and least often the face. In some contiguous areas (arm & trunk) were affected. Under age 30 CAL macules were most common followed by freckling, NF, and plexiform NF. Lisch nodules were rare. In the >30 age group NF were most common followed by CAL macules, plexiform NF, and freckling. Lisch nodules were rare. 2 patients had internal NF resulting in severe pain, motor and sensory dysfunctions.
Conclusion: The incidence of SNF has not been well studied. Our CCF series suggests it is not rare. Only a few patients have had DNA studies so we cannot be sure that every patient in our series truly has a post zygotic mutation of CHR-17. None of our patients had 1° relatives with either the generalized or segmental form of NF-I. The genetic risks seem limited. This group of patients lacked the severe systemic manifestation of NF-I such as MR, LD, epilepsy, scoliosis, ONG, etc. The most severe disabilities occurred in the 2 patients with deep NF causing pain and sensory/motor disability. Further DNA studies and longitudinal studies of this disorder are needed to better understand its etiology and prognosis.