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==Overview==
==Overview==
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].


OR
'''[[Neurofibromatosis type 1|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 [[Cancer|malignant tumors]] the most common cause of death.


Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
==Natural History, Complications, and Prognosis==
==Natural History, Complications, and Prognosis==


===Natural History===
=== Natural history ===


* Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders.
* Manifestations vary widely among patients with [[neurofibromatosis type 1]], from individuals with absent symptoms to rapidly progessive disorders.<ref name="pmid203012882" />
* Characteristics of neurofibromatosis type 1 appear at different ages,<ref name="pmid20301288">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Friedman JM |title= |journal= |volume= |issue= |pages= |date= |pmid=20301288 |doi= |url=}}</ref> among them:
* Characteristics of [[neurofibromatosis type 1]] appear at different ages,<ref name="pmid203012882" /><ref name="pmid106991172">{{cite journal |vauthors=DeBella K, Szudek J, Friedman JM |title=Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children |journal=Pediatrics |volume=105 |issue=3 Pt 1 |pages=608–14 |date=March 2000 |pmid=10699117 |doi=10.1542/peds.105.3.608 |url=}}</ref><ref name="pmid16018159">{{cite journal |vauthors=Boulanger JM, Larbrisseau A |title=Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience |journal=Can J Neurol Sci |volume=32 |issue=2 |pages=225–31 |date=May 2005 |pmid=16018159 |doi=10.1017/s0317167100004017 |url=}}</ref><ref name="pmid19117870">{{cite journal |vauthors=Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL |title=Neurofibromatosis type 1 revisited |journal=Pediatrics |volume=123 |issue=1 |pages=124–33 |date=January 2009 |pmid=19117870 |doi=10.1542/peds.2007-3204 |url=}}</ref> among them:
** Bone manifestations appear from birth.<ref name="pmid20301288" />
** Bone manifestations appear from birth.<ref name="pmid203012882" />
** Plexiform neurofibromas appear usually around 1 year of age.<ref name="pmid20301288" />
** [[Neurofibroma|Plexiform neurofibromas]] appear usually around 1 year of age.<ref name="pmid203012882" />
** Cafe au lait spots appear in the first 5 years of life.<ref name="pmid20301288" />
** [[Café au lait spot|Cafe au lait spots]] appear in the first 5 years of life.<ref name="pmid203012882" />
** Optic gliomas develope in the first 6 years of life.<ref name="pmid20301288" />
** [[Optic nerve glioma|Optic gliomas]] develope in the first 6 years of life.<ref name="pmid203012882" />
** Scoliosis develops between age 6 and 10.<ref name="pmid20301288" />
** [[Scoliosis]] develops between age 6 and 10.<ref name="pmid203012882" />
** Malignant peripheral nerve sheath tumors usually usually appear around adolescence or adulthood.<ref name="pmid20301288" />
** Malignant peripheral nerve sheath tumors usually appear around adolescence or adulthood.<ref name="pmid203012882" />
* People with neurofibromatosis type 1 tend to grow below average in height and above average in head circumference.<ref name="pmid10588837">{{cite journal |vauthors=Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R |title=Neurofibromatosis type 1 growth charts |journal=Am. J. Med. Genet. |volume=87 |issue=4 |pages=317–23 |date=December 1999 |pmid=10588837 |doi=10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x |url=}}</ref><ref name="pmid10817659">{{cite journal |vauthors=Szudek J, Birch P, Friedman JM |title=Growth charts for young children with neurofibromatosis 1 (NF1) |journal=Am. J. Med. Genet. |volume=92 |issue=3 |pages=224–8 |date=May 2000 |pmid=10817659 |doi= |url=}}</ref><ref name="pmid20301288" />
* People with [[neurofibromatosis type 1]] tend to grow below average in height and above average in [[head circumference]].<ref name="pmid105888372">{{cite journal |vauthors=Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R |title=Neurofibromatosis type 1 growth charts |journal=Am. J. Med. Genet. |volume=87 |issue=4 |pages=317–23 |date=December 1999 |pmid=10588837 |doi=10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x |url=}}</ref><ref name="pmid108176592">{{cite journal |vauthors=Szudek J, Birch P, Friedman JM |title=Growth charts for young children with neurofibromatosis 1 (NF1) |journal=Am. J. Med. Genet. |volume=92 |issue=3 |pages=224–8 |date=May 2000 |pmid=10817659 |doi= |url=}}</ref><ref name="pmid23466600">{{cite journal |vauthors=Karvonen M, Saari A, Hannila ML, Lönnqvist T, Dunkel L, Sankilampi U |title=Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1 |journal=Horm Res Paediatr |volume=79 |issue=2 |pages=97–102 |date=2013 |pmid=23466600 |doi=10.1159/000347119 |url=}}</ref><ref name="pmid203012882" />
* Precocious puberty and delayed puberty is more common in individuals with neurofibromatosis type 1 than the general population.<ref name="pmid10969931">{{cite journal |vauthors=Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, Donadio A, Pisani F, Terzi C, Garavelli L |title=Neurofibromatosis type 1 and precocious puberty |journal=J. Pediatr. Endocrinol. Metab. |volume=13 Suppl 1 |issue= |pages=841–4 |date=July 2000 |pmid=10969931 |doi=10.1515/jpem.2000.13.s1.841 |url=}}</ref><ref name="pmid20301288" />
* [[Precocious puberty]] and [[delayed puberty]] is more common in individuals with neurofibromatosis type 1 than the general population.<ref name="pmid109699312">{{cite journal |vauthors=Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, Donadio A, Pisani F, Terzi C, Garavelli L |title=Neurofibromatosis type 1 and precocious puberty |journal=J. Pediatr. Endocrinol. Metab. |volume=13 Suppl 1 |issue= |pages=841–4 |date=July 2000 |pmid=10969931 |doi=10.1515/jpem.2000.13.s1.841 |url=}}</ref><ref name="pmid26666878">{{cite journal |vauthors=Kocova M, Kochova E, Sukarova-Angelovska E |title=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 |journal=BMC Endocr Disord |volume=15 |issue= |pages=82 |date=December 2015 |pmid=26666878 |pmc=4678666 |doi=10.1186/s12902-015-0076-4 |url=}}</ref><ref name="pmid12729406">{{cite journal |vauthors=Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S |title=Growth and pubertal disorders in neurofibromatosis type 1 |journal=J. Pediatr. Endocrinol. Metab. |volume=16 Suppl 2 |issue= |pages=289–92 |date=March 2003 |pmid=12729406 |doi= |url=}}</ref><ref name="pmid203012882" />


===Complications===
===Complications===
*Common complications of neurofibromatosis type 1 include:
 
**Depression and social anxiety
*Common complications of [[neurofibromatosis type 1]] include:
**Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors
**[[Depression]] and [[social anxiety]]<ref name="pmid29478615" />
**Blindness due to optic nerve gliomas
**Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors<ref name="pmid29478615" />
**Amputation due to a tibial pseudarthrosis
**Blindness due to [[Optic nerve glioma|optic nerve gliomas]]<ref name="pmid29478615">{{cite journal |vauthors=Cimino PJ, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=148 |issue= |pages=799–811 |date=2018 |pmid=29478615 |doi=10.1016/B978-0-444-64076-5.00051-X |url=}}</ref>
**Disfigurement due to skin lesions
**Amputation due to a tibial [[pseudarthrosis]]<ref name="pmid29478615" />
**Brain tumors
**[[Disfigurement]] due to skin lesions<ref name="pmid29478615" />
**Wandering problems due to scoliosis and/or kyphosis
**[[Brain tumors]]<ref name="pmid29478615" />
**Malignant degeneration of neurofibromas into malignant periphreal nerve sheath tumor (this occurs in 10-12% of the cases)
**Wandering problems due to [[scoliosis]] and/or [[kyphosis]]<ref name="pmid29478615" />
**Malignant degeneration of neurofibromas into malignant peripheral nerve sheath tumor (this occurs in 10-12% of the cases)<ref name="pmid29478615" />


===Prognosis===
===Prognosis===
*Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [--]%.
*Depending on the extent of the [tumor/disease progression] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
*The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
*[Subtype of disease/malignancy] is associated with the most favorable prognosis.
*The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis.
Common complications of neurofibromatosis type 1 include:
*
There is wide variability in how different individuals with the NF-1 gene manifest the disorder. Some individuals may have no symptoms, while others may have rapidly progressive disorder.
The primary problem of NF-1 is the disfigurement due to the cutaneous neurofibromas, pigmented lesions, and occasional limb abnormalities.
Several more severe complications of NF-1 are listed in the following section.


*Chronic pain, numbness, Pritchetts face, and/or paralysis due to the peripheral nerve sheath tumors
* 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.
*Blindness due to optic nerve gliomas
* [[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.<ref name="pmid23817811">{{cite journal |vauthors=Vranceanu AM, Merker VL, Park E, Plotkin SR |title=Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature |journal=J. Neurooncol. |volume=114 |issue=3 |pages=257–62 |date=September 2013 |pmid=23817811 |doi=10.1007/s11060-013-1195-2 |url=}}</ref>
*Brain tumors
* [[Life expectancy]] in patients with neurofibromatosis type 1 is usually reduced 8-21 years from the normal population.<ref name="pmid28230061" />
*Neurologic impairment due to severe spinal scoliosis and/or kyphosis
* The most common cause of death in these type of patients is due to [[Malignant neoplasms|malignant neoplasm]].<ref name="pmid28230061" /><ref name="pmid25354145" /><ref name="pmid21694737" /><ref name="pmid11283797" /><ref name="pmid21439034" /><ref name="pmid7604643" />
*Amputation due to a tibial pseudarthrosis
*Malignant degeneration of a plexiform neurofibroma into malignant periphreal nerve sheath tumor (MPNST), occurring in 10-12%
*Depression, It is very common of NF sufferers to suffer severe depression because of the disfigurement it can cause to the body and face.
*Social Anxiety is also common among NF sufferers because of the reaction of others to the condition.


The life expectancy of individuals with neurofibromatosis type 1 is reduced by ~8–21 years,<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref> and an excess of deaths occurs in younger individuals (<40 years of age), compared with the general population; the most common cause of early death is malignant neoplasm,,<ref name="pmid28230061" /><ref name="pmid25354145" /><ref name="pmid21694737" /><ref name="pmid11283797" /><ref name="pmid21439034" /><ref name="pmid7604643" /> Individuals have an increased risk for malignant and non-malignant conditions compared with the general population (BOX 1).
<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 14:31, 1 September 2020

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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

Complications

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. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  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.
  13. ↑ 13.0 13.1
  14. ↑
  15. ↑
  16. ↑
  17. ↑
  18. ↑

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