Neurofibromatosis.
Abstract
Neurofibromatosis (NF) is an inherited disorder characterized by the development of a wide variety of clinical manifestations, including characteristic "freckle-like" pigmentations (cafe au lait spots) that develop in infancy, followed by skin tumors that may vary widely in size, number, and distribution. In addition to skin tumors, bone, neurologic, and endocrine abnormalities are common. NF is recognized in eight different types, with clinical heterogeneity being the hallmark of this disease. Malignant degeneration of the tumor to neurofibrosarcoma is rare. Early diagnosis, genetic counseling, treatment of symptoms, and appropriate surgery are the tools available for management of NF patients. Surgical procedures generally involve judicious subtotal resection, combined with reconstructive efforts aimed at functional improvement and cosmesis.
추출된 의학 개체 (NER)
| 유형 | 영어 표현 | 한국어 / 풀이 | UMLS CUI | 출처 | 등장 |
|---|---|---|---|---|---|
| 해부 | bone
|
scispacy | 1 | ||
| 해부 | endocrine
|
scispacy | 1 | ||
| 합병증 | freckle-like
|
scispacy | 1 | ||
| 합병증 | cafe au
|
scispacy | 1 | ||
| 질환 | Neurofibromatosis
|
C0085113
NF1 gene
|
scispacy | 1 | |
| 질환 | inherited disorder
|
scispacy | 1 | ||
| 질환 | pigmentations
|
C0031911
Pigmentation
|
scispacy | 1 | |
| 질환 | skin tumors
|
C0037286
Skin Neoplasms
|
scispacy | 1 | |
| 질환 | bone, neurologic, and endocrine abnormalities
|
scispacy | 1 | ||
| 질환 | Malignant degeneration
|
scispacy | 1 | ||
| 질환 | tumor
|
C0027651
Neoplasms
|
scispacy | 1 | |
| 질환 | neurofibrosarcoma
|
C0206729
Neurofibrosarcoma
|
scispacy | 1 | |
| 질환 | disease
|
scispacy | 1 |
MeSH Terms
Adult; Female; Humans; Male; Middle Aged; Nervous System Neoplasms; Neurofibromatosis 1; Skin Neoplasms; Surgery, Plastic
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