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Neurofibromatosis.

Clinics in plastic surgery 1987 Vol.14(2) p. 315-25

Spira M, Riccardi V

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)

유형영어 표현한국어 / 풀이UMLS CUI출처등장
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

같은 제1저자의 인용 많은 논문 (5)