Neurofibromatosis type 1 history and symptoms: Difference between revisions

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{{Neurofibromatosis type 1}}
{{Neurofibromatosis type 1}}


{{CMG}}; {{AE}}  
{{CMG}}; {{AE}}[[User:MoisesRomo|Moises Romo M.D.]]
==Overview==
==Overview==
The majority of patients with [disease name] are asymptomatic.
'''[[Neurofibromatosis type 1]]''' manifestations vary widely among patients , from individuals with absent [[symptoms]] to rapidly progessive 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, beign [[Cancer|malignant tumors]] the most common cause of death.<br />


OR
==History and Symptoms==
 
===History===
 
**Manifestations vary widely among patients with [[neurofibromatosis type 1]], from individuals with absent symptoms to rapidly progessive disorders.<ref name="pmid203012882">{{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>
**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="pmid203012882" />
***[[Neurofibroma|Plexiform neurofibromas]] appear usually around 1 year of age.<ref name="pmid203012882" />
***[[Café au lait spot|Cafe au lait spots]] appear in the first 5 years of life.<ref name="pmid203012882" />
***[[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="pmid203012882" />
***Malignant peripheral nerve sheath tumors usually 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="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="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" />


The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
===Complications===


==History and Symptoms==
*Common complications of [[neurofibromatosis type 1]] include:
*The majority of patients with [disease name] are asymptomatic.
**[[Depression]] and [[social anxiety]]<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>
OR
**Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors<ref name="pmid29478615" />
*The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
**Blindness due to [[Optic nerve glioma|optic nerve gliomas]]<ref name="pmid29478615" />
*Symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
**Amputation due to a tibial [[pseudarthrosis]]<ref name="pmid29478615" />
===History===
**[[Disfigurement]] due to skin lesions<ref name="pmid29478615" />
Patients with [disease name]] may have a positive history of:
**[[Brain tumors]]<ref name="pmid29478615" />
*[History finding 1]
**Wandering problems due to [[scoliosis]] and/or [[kyphosis]]<ref name="pmid29478615" />
*[History finding 2]
**Malignant degeneration of [[Neurofibroma|neurofibromas]] into [[Nerve sheath tumor|malignant periphreal nerve sheath tumor]] (this occurs in 10-12% of the cases)<ref name="pmid29478615" />
*[History finding 3]


===Common Symptoms===
===Common Symptoms===
Common symptoms of [disease] include:
Common symptoms of [[neurofibromatosis type 1]] include:
*[Symptom 1]
 
*[Symptom 2]
*[[Learning disability|Learning difficulties]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic">{{cite web |url=https://www.mayoclinic.org/es-es/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490 |title=Neurofibromatosis - Síntomas y causas - Mayo Clinic |format= |work= |accessdate=}}</ref>
*[Symptom 3]
*[[Clinical depression|Depression]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />
*[[Headache|Headaches]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />
*[[Back pain]] due to [[Scoliosis|scloliosis]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />


===Less Common Symptoms===
===Less Common Symptoms===
Less common symptoms of [disease name] include
Less common symptoms of [[neurofibromatosis type 1]] include
*[Symptom 1]
 
*[Symptom 2]
*[[Attention-deficit hyperactivity disorder|Attention difficulties and hyperactivity]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />
*[Symptom 3]
*[[Vision]] problems<ref name="urlNeurofibromatosis type 1 - Symptoms - NHS" />
*[[Pain]] due to [[Neurofibroma|neurofibromas]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />
*[[Bradykinesia]]<ref name="urlNeurofibromatosis - Síntomas y causas - Mayo Clinic" />
*[[Dysphagia]]<ref name="urlNeurofibromatosis type 1 - Symptoms - NHS" />
*[[Dyspnea]]<ref name="urlNeurofibromatosis type 1 - Symptoms - NHS" />
*[[Urinary incontinence|Loss of bladder]] or [[bowel]] control<ref name="urlNeurofibromatosis type 1 - Symptoms - NHS" />
*[[Abdominal pain]]<ref name="urlNeurofibromatosis type 1 - Symptoms - NHS">{{cite web |url=https://www.nhs.uk/conditions/neurofibromatosis-type-1/symptoms/ |title=Neurofibromatosis type 1 - Symptoms - NHS |format= |work= |accessdate=}}</ref>


==References==
==References==

Latest revision as of 14:34, 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 progessive 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, beign malignant tumors the most common cause of death.

History and Symptoms

History

Complications

Common Symptoms

Common symptoms of neurofibromatosis type 1 include:

Less Common Symptoms

Less common symptoms of neurofibromatosis type 1 include

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Friedman JM. PMID 20301288. Vancouver style error: initials (help); Missing or empty |title= (help)
  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. ↑ 12.0 12.1 12.2 12.3 12.4 12.5 12.6 "Neurofibromatosis - Síntomas y causas - Mayo Clinic".
  13. ↑ 13.0 13.1 13.2 13.3 13.4 "Neurofibromatosis type 1 - Symptoms - NHS".

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