Neurofibromatosis type 1 natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.

Overview

Neurofibromatosis Type 1 manifestations vary widely among patients , from individuals with absent symptoms to rapidly progressive disorders. The most common complication of neurofibromatosis type 1 is disfigurement due to skin lesions. Prognosis will depend on the number of commorbidities, but it is usually moderately good. Life expectancy is usually reduced by 8-12 years, being malignant tumors the most common cause of death.

Natural History, Complications, and Prognosis

Natural history

Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders.^[1]
Characteristics of neurofibromatosis type 1 appear at different ages,^[1]^[2]^[3]^[4] among them:
- Bone manifestations appear from birth.^[1]
- Plexiform neurofibromas appear usually around 1 year of age.^[1]
- Cafe au lait spots appear in the first 5 years of life.^[1]
- Optic gliomas develope in the first 6 years of life.^[1]
- Scoliosis develops between age 6 and 10.^[1]
- Malignant peripheral nerve sheath tumors usually appear around adolescence or adulthood.^[1]
People with neurofibromatosis type 1 tend to grow below average in height and above average in head circumference.^[5]^[6]^[7]^[1]
Precocious puberty and delayed puberty is more common in individuals with neurofibromatosis type 1 than the general population.^[8]^[9]^[10]^[1]

Complications

Common complications of neurofibromatosis type 1 include:
- Depression and social anxiety^[11]
- Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors^[11]
- Blindness due to optic nerve gliomas^[11]
- Amputation due to a tibial pseudarthrosis^[11]
- Disfigurement due to skin lesions^[11]
- Brain tumors^[11]
- Wandering problems due to scoliosis and/or kyphosis^[11]
- Malignant degeneration of neurofibromas into malignant peripheral nerve sheath tumor (this occurs in 10-12% of the cases)^[11]

Prognosis

Depending on the extent of the disease progression and the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as moderately good.
Quality of life is lower in children and adults with neurofibromatosis type 1, due to the several commorbidities and complications, many times having an incapacitating depression.^[12]
Life expectancy in patients with neurofibromatosis type 1 is usually reduced 8-21 years from the normal population.^[13]
The most common cause of death in these type of patients is due to malignant neoplasm.^[13]^[14]^[15]^[16]^[17]^[18]

References

↑ ^1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 Invalid <ref> tag; no text was provided for refs named pmid203012882
↑ DeBella K, Szudek J, Friedman JM (March 2000). "Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children". Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.
↑ Boulanger JM, Larbrisseau A (May 2005). "Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience". Can J Neurol Sci. 32 (2): 225–31. doi:10.1017/s0317167100004017. PMID 16018159.
↑ Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (January 2009). "Neurofibromatosis type 1 revisited". Pediatrics. 123 (1): 124–33. doi:10.1542/peds.2007-3204. PMID 19117870.
↑ Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R (December 1999). "Neurofibromatosis type 1 growth charts". Am. J. Med. Genet. 87 (4): 317–23. doi:10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x. PMID 10588837.
↑ Szudek J, Birch P, Friedman JM (May 2000). "Growth charts for young children with neurofibromatosis 1 (NF1)". Am. J. Med. Genet. 92 (3): 224–8. PMID 10817659.
↑ Karvonen M, Saari A, Hannila ML, Lönnqvist T, Dunkel L, Sankilampi U (2013). "Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1". Horm Res Paediatr. 79 (2): 97–102. doi:10.1159/000347119. PMID 23466600.
↑ Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, Donadio A, Pisani F, Terzi C, Garavelli L (July 2000). "Neurofibromatosis type 1 and precocious puberty". J. Pediatr. Endocrinol. Metab. 13 Suppl 1: 841–4. doi:10.1515/jpem.2000.13.s1.841. PMID 10969931.
↑ Kocova M, Kochova E, Sukarova-Angelovska E (December 2015). "Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature". BMC Endocr Disord. 15: 82. doi:10.1186/s12902-015-0076-4. PMC 4678666. PMID 26666878.
↑ Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S (March 2003). "Growth and pubertal disorders in neurofibromatosis type 1". J. Pediatr. Endocrinol. Metab. 16 Suppl 2: 289–92. PMID 12729406.
↑ ^11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
↑ Vranceanu AM, Merker VL, Park E, Plotkin SR (September 2013). "Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature". J. Neurooncol. 114 (3): 257–62. doi:10.1007/s11060-013-1195-2. PMID 23817811.
↑ ^13.0 ^13.1 Invalid <ref> tag; no text was provided for refs named pmid28230061
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[pmid203012882-1] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 Invalid <ref> tag; no text was provided for refs named pmid203012882

[pmid106991172-2] DeBella K, Szudek J, Friedman JM (March 2000). "Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children". Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.

[pmid16018159-3] Boulanger JM, Larbrisseau A (May 2005). "Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience". Can J Neurol Sci. 32 (2): 225–31. doi:10.1017/s0317167100004017. PMID 16018159.

[pmid19117870-4] Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (January 2009). "Neurofibromatosis type 1 revisited". Pediatrics. 123 (1): 124–33. doi:10.1542/peds.2007-3204. PMID 19117870.

[pmid105888372-5] Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R (December 1999). "Neurofibromatosis type 1 growth charts". Am. J. Med. Genet. 87 (4): 317–23. doi:10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x. PMID 10588837.

[pmid108176592-6] Szudek J, Birch P, Friedman JM (May 2000). "Growth charts for young children with neurofibromatosis 1 (NF1)". Am. J. Med. Genet. 92 (3): 224–8. PMID 10817659.

[pmid23466600-7] Karvonen M, Saari A, Hannila ML, Lönnqvist T, Dunkel L, Sankilampi U (2013). "Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1". Horm Res Paediatr. 79 (2): 97–102. doi:10.1159/000347119. PMID 23466600.

[pmid109699312-8] Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, Donadio A, Pisani F, Terzi C, Garavelli L (July 2000). "Neurofibromatosis type 1 and precocious puberty". J. Pediatr. Endocrinol. Metab. 13 Suppl 1: 841–4. doi:10.1515/jpem.2000.13.s1.841. PMID 10969931.

[pmid26666878-9] Kocova M, Kochova E, Sukarova-Angelovska E (December 2015). "Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature". BMC Endocr Disord. 15: 82. doi:10.1186/s12902-015-0076-4. PMC 4678666. PMID 26666878.

[pmid12729406-10] Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S (March 2003). "Growth and pubertal disorders in neurofibromatosis type 1". J. Pediatr. Endocrinol. Metab. 16 Suppl 2: 289–92. PMID 12729406.

[pmid29478615-11] 11.0 ^11.1 ^11.2 ^11.3 ^11.4 ^11.5 ^11.6 ^11.7 Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.

[pmid23817811-12] Vranceanu AM, Merker VL, Park E, Plotkin SR (September 2013). "Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature". J. Neurooncol. 114 (3): 257–62. doi:10.1007/s11060-013-1195-2. PMID 23817811.

[pmid28230061-13] 13.0 ^13.1 Invalid <ref> tag; no text was provided for refs named pmid28230061

[pmid25354145-14] Invalid <ref> tag; no text was provided for refs named pmid25354145

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