Main Article Content
Introduction: Neurofibromatosis type 1 is a rare genetic disorder that is characterized by the growth of noncancerous neurocutaneous tumors that form near the spinal cord and along the peripheral nerves in the body. Symptoms NF-1 are usually detected in infancy or early childhood. However, in some cases, children and adults without family history may have a spontaneous genetic mutation of unknown cause. There are several modalities to treat NF-1, which include conventional surgery removal and CO2 laser ablation. The review of literature aims to compare the efficacy and outcomes of these two modalities.
Case presentation: A 32-year old post-partum Australian woman is presented to the neurosurgery department outpatient clinic. When she was around 20-year old, non-painful multiple noncancerous growth along her spine and peripheral nerves and multiple café-au-lait spots started to appear. The size and numbers of growth and spots are gradually increasing as she aged. The diagnosis of NF-1 was made according to the presence of four of the seven diagnostic criteria of the National Institute of Health Consensus Development Conference. Patient is scheduled to go to NF clinic 2 months after the meeting, in which the patient is planned to undergo a treatment of CO2 laser ablation.
Conclusions: Studies have shown that CO2 has outperformed conventional surgery in managing the clinical manifestation of NF-1 in term of effectivity and cosmetic outcomes.
Keywords: neurofibromatosis type I, von Recklinghausen’s disease, adult, post-partum woman, CO2 laser ablation
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
© Journal of Asian Medical Students’ Association (JAMSA). Released under a Creative Commons license.
2. Dimitrova V, Yordanova I, Pavlova I, Valtchev V, Gospodinov D, Parashkevova B, et al. A case of neurofibromatosis type 1. JIMAB. 2008; 14 (1): p. 63-7. DOI: 10.5275/jimab.14-1-2010.63
3. Sayah C, Benmahmoud M, Yahia SA, Soualili Z. Neurofibromatosis type 1 (NF1): case report and review of literature. J Child Dev Disrod. 2016; 2 (3): p. 1-4. DOI: 10.4172/2472-1786.100028
4. Cawthon RM, Weiss R, Xu GF, Viskhocil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990; 62 (1): p. 193-201. DOI: 10.1016/0092-8674(90)90253-b
5. Kresak JL, Walsh M. Hereditary cancer syndromes in children: neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 2016; 5 (2): p. 98-104. DOI: 10.1055/S-0036-1579766
6. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014; 13 (1): p. 834-43. DOI: 10.1016/s1474-4422(14)70063-8
7. McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, et al. A clinical study of type 1 neurofibromatosis in north west England. J Med Genet. 1999; 36 (1): p. 197-203. DOI: 10.1136/jmg.36.3.197
8. Kriechbaumer LK, Susani M, Kircher SG, Distelmaier K, Happak W. Comparative study of CO2- and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen’s disease. Lasers Med Sci. 2013; 29 (3): p. 1083-91. DOI: 10.1007/s10103-013-1469-0
9. Algermissen B, Müller U, Katalinic D, Berlien HP. CO2 laser treatment of neurofibromas of patients with neurofibromatosis type 1: five years experience. Med Laser Appl. 2001; 16 (4): p. 265–74. DOI:10.1078/1615-1615-00031
10. Katalinic D. Laser surgical treatment of neurofibromas. Khirrurgia. 1996; 3 (5): p. 52-4
11. Andre P, Chavaudra J, Damia E, Guillaume JC, Avril MF. Lasers in dermatology. Ann Dermatol Venereol. 1990; 117 (4): p. 377-95.
12. Becker DW. Use of the carbon dioxide laser in treating multiple cutaneous neurofibromas. Ann Plast Surg. 1991; 26 (8): p. 582-6
13. Kaufmann D, Tinschert S, Algermeissen B. Is the pattern of dermal neurofibromas in Neurofibromatosis type 1 (NF-1) related to the pattern of the skin surface temperature? Eur J Dermatol. 2001; 24 (7): p. 442-50
14. Moreno JC, Mathoret C, Lantieri L, Zeller J, Revuz J, Wolkeinstein P. Carbon dioxide laser for removal of multiple cutaneous neurofibromas. Br J Dermatol. 2001; 144 (3): p. 1096-8
15. Üre I, Gürocak S, Gönül II, Sözen S, Deniz N. Neurofibromatosis type 1 with bladder involvement. Urol Case Rep. 2013: p. 1-3. DOI: 10.1155/2013/14507
16. Bata BM, Hodge DO, Mohney BG. Neurofibromatosis type 1: a randomized-controlled study. J Pediatr Ophtalmol Strabismus. 2019; 56 (4): p. 234-47. DOI: 10.3928/01913913-20190321-02
17. Algermissen B, Müller U, Katalinic D, Berlien HP. CO2 laser treatment of neurofibromas of patients with neurofibromatosis type 1: a systematic review. Med Laser Appl. 2001; 16 (1): p. 265-74
18. Miyawaki T, Billings B, Har-Shai Y, Agbenorku P, Kokuba E, Moreira-Gonzales A, et al. Multicenter study of wound healing in neurofibromatosis and neurofibroma. J Craniofac Surg. 2007; 18 (5): p. 1008-11. DOI: 10.1097/scs.0b013e31811f3587
19. Dubin I, Glick Y, Schattner A. Postpartum shoulder pain and shortness of breath. Postgrad Med J. 2019; 10 (2): p. 23-4. DOI: 10.1136/postgradmedj-2018-136224
20. Kriechbaumer LK, Susani M, Kircher SG, Distelmaier K, Happak W. Comparative study of CO2 and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen’s disease. Lasers Med Sci. 2013; 35 (4): p. 18-27. DOI: 10.1007/S10103-013-1469-0