Neurofibromatosis type 1 natural history, complications and prognosis: Difference between revisions
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===Natural History=== | ===Natural History=== | ||
* | |||
* | * Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders. | ||
* | * 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: | ||
** Bone manifestations appear from birth.<ref name="pmid20301288" /> | |||
** Plexiform neurofibromas appear usually around 1 year of age.<ref name="pmid20301288" /> | |||
** Cafe au lait spots appear in the first 5 years of life.<ref name="pmid20301288" /> | |||
** Optic gliomas develope in the first 6 years of life.<ref name="pmid20301288" /> | |||
** Scoliosis develops between age 6 and 10.<ref name="pmid20301288" /> | |||
** Malignant peripheral nerve sheath tumors usually usually appear around adolescence or adulthood.<ref name="pmid20301288" /> | |||
* 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" /> | |||
* 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" /> | |||
===Complications=== | ===Complications=== | ||
*Common complications of | *Common complications of neurofibromatosis type 1 include: | ||
** | **Depression and social anxiety | ||
** | **Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors | ||
** | **Blindness due to optic nerve gliomas | ||
**Amputation due to a tibial pseudarthrosis | |||
**Disfigurement due to skin lesions | |||
**Brain tumors | |||
**Wandering problems due to scoliosis and/or kyphosis | |||
**Malignant degeneration of neurofibromas into malignant periphreal nerve sheath tumor (this occurs in 10-12% of the cases) | |||
===Prognosis=== | ===Prognosis=== | ||
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*[Subtype of disease/malignancy] is associated with the most favorable prognosis. | *[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. | *The prognosis varies with the [characteristic] of tumor; [subtype of disease/malignancy] have the most favorable prognosis. | ||
Common complications of neurofibromatosis type 1 include: | |||
* | |||
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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
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
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
- Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders.
- Characteristics of neurofibromatosis type 1 appear at different ages,[1] 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 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.[2][3][1]
- Precocious puberty and delayed puberty is more common in individuals with neurofibromatosis type 1 than the general population.[4][1]
Complications
- Common complications of neurofibromatosis type 1 include:
- Depression and social anxiety
- Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors
- Blindness due to optic nerve gliomas
- Amputation due to a tibial pseudarthrosis
- Disfigurement due to skin lesions
- Brain tumors
- Wandering problems due to scoliosis and/or kyphosis
- Malignant degeneration of neurofibromas into malignant periphreal nerve sheath tumor (this occurs in 10-12% of the cases)
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
- Blindness due to optic nerve gliomas
- Brain tumors
- Neurologic impairment due to severe spinal scoliosis and/or kyphosis
- 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,[5] 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,,[5][6][7][8][9][10] Individuals have an increased risk for malignant and non-malignant conditions compared with the general population (BOX 1).
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 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) - ↑ 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.
- ↑ 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.
- ↑ 5.0 5.1 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.
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