CORRECT DIAGNOSIS:
Neurofibromatosis Type 1
DISCUSSION:
Our patient presented as an unusual case of NF type 1 which took greater than 3 years and multiple specialty consultations until a diagnosis was rendered. Orthopedics, Genetics, Dermatology, and Ophthalmology consultations did not result in a diagnosis or with suggestions for how to help the child’s cosmesis or possible future functional impairments. Upon initial presentation in our dermatology office, the differential diagnosis represented the venous lymphatic malformations seen in Proteus or Maffucci syndromes, or possibly the enchondromas seen in Maffucci’s syndrome. Consultation with a Pediatric Dermatologist was placed. Operating under the impression that the lesions were vascular in nature due to H&P as well as past MRI and recent US evaluation, the patient was brought to the Vascular Anomalies Clinic where biopsies of the lesions were deemed the next most appropriate option. Biopsies revealed plexiform neurofibromas. These are pathognomonic for NF type 1. The patient has a full-body MRI scheduled to determine the extent of lesions.
Literature searches have noted the MRIs of superficial plexiform neurofibromas can be misread as venolymphatic malformations(O’Keefe). This explains the initial confusion of the original MRI done at 3 years of age. Also contributing to the delay in diagnosis is that during an initial presentation at 3 years of age the patient had only one café au lait macule. She did not then meet the criteria for NF type 1.
Now that a diagnosis has been rendered more radiologic, and perhaps histopathologic, procedures need to be performed. Friedrich et al. note that when 22 NF type 1 patients were investigated clinically and radiographically, 11 had trigeminal plexiform neurofibromas and 11 had multiple cutaneous neurofibromas. Maxillary sinus malformations were present in those with trigeminal plexiform neurofibromas. Thus, a midfacial overgrowth can greatly complicate the care of these patients. It will be important to determine the extent of her facial lesions for cosmesis and to determine if these lesions are starting to compress vital organs.
This case took over 4 years, and multiple specialties, to determine the correct diagnosis of neurofibromatosis type 1. Now that the diagnosis has been determined there is much debate on how to further treat the patient for both functional, as well as cosmetic, reasons. These decisions will be reached after further MRI imaging is performed of the head and neck.
TREATMENT:
Once radiographic studies are performed, is it necessary to have a biopsy performed of her facial lesion? What other diagnostic studies should be performed? What procedures can be entertained to decrease the size of the tumorous masses?
REFERENCES:
Paller, A. (n.d.). Hurwitz Clinical Pediatric Dermatology (3rd ed.).
Spitz, J. L. (2005). Genodermatoses: A clinical guide to genetic disorders (2nd ed.). Philadelphia: Lippincott Williams & Wilkins.
Mallory, S. B., Alanna, B., & Chern, P. (n.d.). Illustrated manual of pediatric dermatology.
James, W. D., Berger, T. G., & Elston, D. M. (2006). Andrews’ diseases of the skin (10th ed.). Canada: Elsevier.
Tsao, H. (2008). Neurofibromatosis and tuberous sclerosis. In Bolognia, J. L., et al. (Eds.), Dermatology (2nd ed., pp. 825-832). Spain: Mosby.
Garzon, M. C., et al. (n.d.). Vascular malformations part II: Associated syndromes. Journal of the American Academy of Dermatology, 541-558.
Friedrich, R. E., Giese, M., Mautner, V. F., Schmelzie, R., & Scheuer, H. A. (2002). Abnormalities of the maxillary sinus in type 1 NF. Mund, Kiefer, Gesichtschirurgie, 6(5), 363-367.
Patil, K., Mahima, V. G., Shetty, S. K., & Lahari, K. (2007). Facial plexiform neurofibroma in a child with NF 1: A case report. Journal of the Indian Society of Pedodontics and Preventive Dentistry, 25(1), 30-35.
O’Keefe, P., Reid, J., Morrison, S., Vidimos, A., & DiFiore, J. (2005). Unexpected diagnosis of superficial NF in a lesion with imaging features of a vascular malformation. Pediatric Radiology, 35(12), 1250-1253.
