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Not only coffee milk spots, read neurofibromas in one article

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Neurofibromatosis, although rare, should not be taken lightly
.

Neurofibromatosis type I (NF1) is an autosomal dominant genetic disease ^[1], which can cause damage and dysfunction of skin, bones, organs, etc.
, and is one of
the difficulties in current medical diagnosis and treatment.

Due to the lack of public awareness of the disease, some medical institutions lack NF1 diagnosis and treatment experience, resulting in NF1 groups being easily misdiagnosed, missed, missed the best treatment time, and causing irreparable damage
to the patient's body.
This article takes you to a comprehensive understanding of NF1, a relatively rare disease, and hopes to help you increase your understanding
of NF1.

Not only skin manifestations, NF1 can cause multi-faceted harm
neurofibromatosis can be clinically divided into 3 main types: NF1, type II neurofibromatosis (NF2) and Schwann cell neoplasia, NF1 is the main type of neurofibromatosis, its global incidence is about 1 in 3000, there are no racial and gender differences ^[2]
。 Because it was first described by von Recklinghausen in 1882, it is also known as von Recklinghausen disease, and was first named NF1
by the National Institutes of Health (NIH) in 1987.

As an autosomal dominant disease, NF1 is caused by NF1 gene mutations located on chromosome 17q11.
2 that lead to inactivation or downregulation of neurofibrin, resulting in a series of neurocutaneous lesions characterized by neurofibromas, which can combine various benign and malignant tumors ^[3].
。 The clinical symptoms of NF1 often manifest as multiple coffee milk spots, freckles, Lisch nodules, skeletal deformities and cognitive dysfunction, and even life-threatening multiple neurofibromas and other tumors, of which multiple coffee milk spots and neurofibromas are the hallmark features
of NF1.

Figure 1: The clinical manifestations of NF1 patients vary
depending on the age of coffee milk spots

The timing and severity of clinical features of NF1 vary from person to person [^3,4], with the typical sequence of presentation being coffee milk spots, axillary and/or inguinal freckles, Lisch nodules, and neurofibromas ^[5].
Bone dysplasia usually develops within 1 year of life, and symptomatic optic pathway gliomas usually develop
by the age of 3 years.
Other tumors and neurological complications usually begin 1
year after birth.
Hypertension may occur in childhood, and malignant tumor changes can occur in childhood, but more commonly in adolescence and
adulthood.

In the Expert Consensus on Clinical Diagnosis and Treatment of NF1 Type I (2021 Edition) ^[6], the natural history of different clinical phenotypes of NF1 patients in China is also proposed (Figure 2).

Figure 2: Natural history flow chart of NF1 (CALMs: coffee milk spots)
NF1 symptoms are complex and diverse, and skeletal abnormalities can include scoliosis and long bone dysplasia, among which scoliosis often occurs at the age of 6~10 or early
adolescence 。 Individual behavioral characteristics can include cognitive impairment, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), which are also more common in childhood
.
Tumors can include malignant peripheral nerve schwannoma (MPNST), optic pathway glioma, which is most common around age 30, but can occur at any age
.

Plexiform neurofibromas (pNF) are one of the main features of NF1, manifested by the formation of large tumor clumps
along multiple nerve trunks and/or branches.
pNF increases fastest in younger patients, but tumor growth rates of more than 20 percent per year are rare in patients older than 18 ^{years [7].}
Most pNFs are associated with significant clinical symptoms, especially in the early stages of pain and motor dysfunction, rapid tumor growth can be accompanied by significant pain exacerbation, and larger tumors are more likely to cause motor dysfunction ^[8].

How to properly diagnose NF1?
In general, NF1 can be diagnosed
by physical examination and evaluation of the patient's family history.
The diagnosis of NF1 in clinical diagnosis and treatment in China mainly draws on the clinical standards formulated by NIH at the 1987 consensus meeting ^[9], specifically:

6 or more coffee milk spots: > 5 mm in diameter before puberty or > 15 mm in diameter after puberty;
2 or more neurofibromas of any type or 1 pNF;
freckles in the armpits or inguinal area;
Optic nerve glioma;
2 or more Lisch nodules;
characteristic bone lesions such as sphenoid dysplasia or cortical thickening of long bones with or without pseudoarthrosis;
Have a first-degree relative (parent, sibling, or child) diagnosed with NF1
based on the above criteria.

If a patient has 2 or more of these clinical features, NF1
is diagnosed.
In 2021, the International Consensus Group on Diagnostic Criteria for Neurofibromatosis (I-NF-DC) proposed amendments to the NF1 diagnostic criteria developed in 1987 ^[10], mainly adding genetic diagnosis to further increase the sensitivity and accuracy
of diagnosis.

At the same time of diagnosis, attention should be paid to the need to distinguish NF1 from other similar diseases, common diseases that are easy to misdiagnose are Legius syndrome, McCune-Albright syndrome, NF2, Noonan syndrome, structural mismatch repair defect syndrome, etc.
^[6], the following are the clinical features of common similar diseases (Table 1).

Table 1: Summary of differential diagnosis
of NF1

Milk coffee spots and neurofibromas are the prominent features of NF1, but the clinical manifestations of NF1 are far more than these, NF1 can involve many parts and systems of the body (skin, nerves, eyes, bones, etc.
), and the symptoms are of different severity, causing patients to have many aspects including appearance and body functions, seriously endangering the physical and mental health
of patients.
Strengthening the understanding of NF1 is conducive to the early diagnosis and treatment of NF1 patients, and reduces the multifaceted harm
caused by the disease.

References: [1] Ellie, Rad, rew, et al.
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer[J].
Seminars in Cell & Developmental Biology, 2016.
[2]Evans DG, Howard E, Giblin C, et al.
Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
Am J Med Genet A 2010; 152A:327.
[3]Gutmann DH, Ferner RE, Listernick RH, et al.
Neurofibromatosis type 1.
Nat Rev Dis Primers, 2017, 3: 17004.
[4]Dunning-Davies BM, Parker APJ.
Annual review of children with neurofibromatosis type 1.
Arch Dis Child Educ Pract Ed, 2016,101(2): 102-111.
[5]DeBella K, Szudek J, Friedman JM.
Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.
Pediatrics 2000; 105:608.
[6] Wang Zhichao, Li Qingfeng.
Expert consensus on clinical diagnosis and treatment of neurofibromatosis type I (2021 edition)[J].
Chinese Journal of Reparative and Reconstructive Surgery,2021,35(11):1384-1395 [7]Akshintala S, Baldwin A, Liewehr DJ, et al.
Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1:growth analysis of plexiform neurofibromas and distinct nodular lesions.
Neuro Oncol, 2020, 22(9): 1368-1378.
[8]Gross AM, Singh G, Akshintala S, et al.
Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1.
Neuro Oncol, 2018, 20(12):1643-1651.
[9]No authors listed.
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis.
Bethesda,Md.
, USA, July 13-15, 1987.
Neurofibromatosis, 1988, 1(3): 172-178.
[10]Legius E, Messiaen L, Wolkenstein P, et al.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med, 2021, 23(8):1506-1513.

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