Neurofibromatosis type 1 history and symptoms
Neurofibromatosis type 1 Microchapters |
Differentiating Neurofibromatosis type 1 from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Neurofibromatosis type 1 history and symptoms On the Web |
American Roentgen Ray Society Images of Neurofibromatosis type 1 history and symptoms |
Risk calculators and risk factors for Neurofibromatosis type 1 history and symptoms |
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.[1]
The most common complication of neurofibromatosis type 1 is disfigurement due to skin lesions[2]
Prognosis will depend on the number of commorbidities, but it is usually moderately good.[3]
Life expectancy is usually reduced by 8-12 years, beign malignant tumors the most common cause of death.[3]
History and Symptoms
History
- Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders.[4]
- Characteristics of neurofibromatosis type 1 appear at different ages,[4][5][6][7] among them:
- Bone manifestations appear from birth.[4]
- Plexiform neurofibromas appear usually around 1 year of age.[4]
- Cafe au lait spots appear in the first 5 years of life.[4]
- Optic gliomas develope in the first 6 years of life.[4]
- Scoliosis develops between age 6 and 10.[4]
- Malignant peripheral nerve sheath tumors usually usually appear around adolescence or adulthood.[4]
- People with neurofibromatosis type 1 tend to grow below average in height and above average in head circumference.[8][9][10][4]
- Precocious puberty and delayed puberty is more common in individuals with neurofibromatosis type 1 than the general population.[11][12][13][4]
Complications
- Common complications of neurofibromatosis type 1 include:
- Depression and social anxiety[14]
- Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors[14]
- Blindness due to optic nerve gliomas[14]
- Amputation due to a tibial pseudarthrosis[14]
- Disfigurement due to skin lesions[14]
- Brain tumors[14]
- Wandering problems due to scoliosis and/or kyphosis[14]
- Malignant degeneration of neurofibromas into malignant periphreal nerve sheath tumor (this occurs in 10-12% of the cases)[14]
Common Symptoms
Common symptoms of neurofibromatosis type 1 include:
Less Common Symptoms
Less common symptoms of neurofibromatosis type 1 include
- Attention difficulties and hyperactivity[15]
- Vision problems[16]
- Pain due to neurofibromas[15]
- Bradykinesia[15]
- Dysphagia[16]
- Dyspnea[16]
- Loss of bladder or bowel control[16]
- Abdominal pain[16]
References
- ↑ 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) - ↑ 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.
- ↑ 3.0 3.1 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 4.9 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) - ↑ 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.
- ↑ 14.0 14.1 14.2 14.3 14.4 14.5 14.6 14.7 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.
- ↑ 15.0 15.1 15.2 15.3 15.4 15.5 15.6 "Neurofibromatosis - Síntomas y causas - Mayo Clinic".
- ↑ 16.0 16.1 16.2 16.3 16.4 "Neurofibromatosis type 1 - Symptoms - NHS".