SPECIAL RADIOLOGIC IMAGES
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DERMATOLOGY
Neurofibromatosis type 1. Part I. Clinical and central nervous system manifestations Karen S. Caldemeyer, MD,a and Ginat W. Mirowski, DMD, MDb Indianapolis, Indiana
NEUROFIBROMATOSES Genetic nerve-sheath disorders; two distinct forms—neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) Neurofibromatosis type 1 (von Recklinghausen or peripheral disease) is characterized by café-au-lait macules (CALMs), cutaneous neuromas, and neurofibromas.
From the Department of Radiology, Division of Neuroradiology and the Department of Dermatology, Indiana University Medical Centera; and the Department of Oral Surgery, Medicine and Pathology, Indiana University Dental School.b Reprint requests: Karen S. Caldemeyer, MD, Department of Radiology, University Hospital, 550 N University Blvd, Room 0279, Indianapolis, IN 46202-5253. E-mail:
[email protected]. J Am Acad Dermatol 2001;44:1025-6. Copyright © 2001 by the American Academy of Dermatology, Inc. 0190-9622/2001/$35.00 + 0 16/1/111615 doi:10.1067/mjd.2001.111615
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Clinical pearls • Prevalence, 1/2500 to 1/7800 • Autosomal dominant inheritance (gene on 17q) • Many cases sporadic • Variable clinical presentation • CALMs • Present at birth or developing during infancy and early childhood (≥ 5 CALMs found in 1.8% newborns, 25%-40% in schoolchildren, 14% in adults with NF1) • CALMs may be seen in persons unaffected by NF1 • Axillary and flexural freckling • Pathognomonic of NF1 • May be present in children • Present in 80% of adults • Four types of neurofibromas • Cutaneous neurofibromas—superficial, soft, button-like flesh-colored papules, no malignant potential, may be cosmetic problem
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Fig 1. A, Axial contrast-enhanced T1-weighted magnetic resonance image shows enhancing bilateral optic nerve gliomas (arrows) with posterior extension into the optic pathways. B, Axial T2-weighted magnetic resonance image shows areas of high signal in the globus pallidi (arrows). C, Axial computed tomographic scan shows absence of the wing of the sphenoid bone (solid arrow) and a plexiform neurofibroma (open arrow) infiltrating the superior orbit.
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• Subcutaneous neurofibromas—papules in dermis, often cause localized pain or tenderness • Nodular plexiform neurofibromas—large plaque composed of network of neurofibromas, direct involvement of dorsal nerve roots • Diffuse plexiform neurofibromas—more invasive, involve all layers of the skin, may invade or involve deeper layers, muscle, bone, and viscera Systemic manifestations Ophthalmic • Iris—Lisch nodules • In 5% of children younger than 3 years, 55% of children 5 to 6 years of age, 94% of prepubertal patients, and 97% to 100% postpubertal patients • Optic nerve or pathway glioma (Fig 1, A) • Most common tumor in children with NF1 • Eighty-five percent present before 15 years of age • Can cause visual loss • Juvenile pilocytic astrocytomas Central nervous system • Other glial tumors • Nonspecific hyperintensities on T2-weighted magnetic resonance image (Fig 1, B) • Commonly within basal ganglia, thalami, brain stem, dentate nuclei, and cerebellar white matter
J AM ACAD DERMATOL JUNE 2001
• Origin controversial • Vascular—aneurysm; infarcts; Moyamoya (progressive occlusion of distal internal carotid arteries with collateral from small perforating arteries) Other • Osseous lesions—sphenoid wing dysplasia (Fig 1, C), lambdoid suture defect • Neurofibromas or diffuse plexiform neurofibromas (Fig 1, C)—most commonly of cranial nerves III-VI BIBLIOGRAPHY Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278:51-7. Lubs ML, Bauer MS, Formas ME, Djokic B. Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991;324:1264-83. Roos KL, Muckway M. Neurofibromatosis. Dermatol Clin 1995; 13:105-11. Smirniotopoulos JG, Murphy FM. The phakomatoses. Am J Neuroradiol 1992;13:725-46. Zvulunov A, Esterly NB. Neurocutaneous syndromes associated with pigmentary skin lesions. J Am Acad Dermatol 1995;32: 915-35.
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