Neurofibromatosis(Von Recklinghausen's disease) is an autosomal dominant disease that affects one in 2,500-3,000 births. The clinical presentation is characterized by multiple pigmented lesions of the skin, known as cafe-au-lait spots, and neurofibromas of the skin. The criteria for diagnosis are at least six cafe-au-lait spots, each greater than 1.5cm in diameter and positive family history and biopsy of a neurofibroma. Management of benign neurofibromatosis must be individualized for each patient and ranges from incisional biopsy to wide local excision. Genetic counseling is advised for all patients with this disease, since no cure is available. We report the case of multiple neurofibromatosis with oral, parapharyngeal space and whole body lesions that was treated with surgical excision.
Biopsy ; Cafe-au-Lait Spots ; Diagnosis ; Genetic Counseling ; Humans ; Neurofibroma ; Neurofibromatoses* ; Parturition ; Skin

Neurofibromatosis is an infrequent genetic disorder that was first clinically described by von Recklinghausen and it was classified into 7 types by Riccardi. Type I neurofibromatosis is the most common type, and it is characterized by neurofibromas of variable size and multiple cafe-au-lait spots with minimal CNS lesion, if any. Malignant tumors develop in 2 to 13% of patients with type I neurofibromatosis, but they are rarely found in the retroperitoneum. We surgically resected huge retroperitoneal malignant peripheral nerve sheath tumors in 2 patients with sporadic type I neurofibromatosis. One patient survived 10 months and the other survived 3 months after operation. Retroperitoneal malignant peripheral nerve sheath tumor shows a poor prognosis even after surgical resection because of frequent recurrence and the lack of effective adjuvant therapy. Early diagnosis and development of new adjuvant therapy are required to effectively treat this malady.
Cafe-au-Lait Spots ; Early Diagnosis ; Humans ; Neurilemmoma* ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1 ; Peripheral Nerves ; Prognosis ; Recurrence

A 30-year-old woman had localized several cutaneous neurofibromas on the scalp in a dermatomal distribution(C2). Family history was negative, and evaluation for other signs such as cafe-au-lait spots, axillary frecklings, or Lisch nodules were not revealed. Biopsy specimen showed a well-circumscribed encapsulated tumor which consists of spindle cells with elongated, wavy nuclei and thin wavy collagenous strands loosely spaced in a clear matrix as seen in the neurofibroma. The diagnosis of bilateral segmental neurofibromatosis was made on the basis of the clinical features including the distribution of the neurofibromas and the absence of the family history and the histology consistent with a neurofibroma.
Adult ; Biopsy ; Cafe-au-Lait Spots ; Collagen ; Diagnosis ; Female ; Humans ; Neurofibroma ; Neurofibromatoses* ; Scalp

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
Cafe-au-Lait Spots ; diagnosis ; genetics ; Child ; Genes, Neurofibromatosis 1 ; Growth Hormone ; deficiency ; Humans ; Male ; Mutation ; Neurofibromatosis 1 ; blood ; diagnosis

OBJECTIVE: To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1). METHODS: Clinical data of 12 patients diagnosed at Ningbo Women and Children's Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis. RESULTS: The 12 patients had ranged from 4 months to 27 years old, with a male-to-female ratio of 2 : 1. Cafè-au-lait spots were found in all patients. 83.3% of them also had axillary and/or inguinal freckling, 58.3% had neurofibromas, and 16.7% had congenital pseudarthrosis of the tibia. Five types of NF1 gene variants were identified in the patients, including 5 nonsense variants, 4 frameshift variants, 1 missense variant, 1 splice variant, 1 large deletion involving the whole gene. Six patients were found to harbor de novo variants, 2 had inherited the variants from their parents, and 4 were not verified for their parental origin. The c.3379del (p.Thr1127Glnfs*15) and c.6628_6629del (p.Glu2210Thrfs*10) variants were unreported in literature and databases. CONCLUSION Most NF1 patients may present with Cafè-au-lait spots initially and are due to pathogenic variant of the NF1 gene. High-throughput sequencing can efficiently identify such variants among the patients and enable the definite diagnosis.
Child ; Humans ; Female ; Male ; Neurofibromatosis 1/diagnosis* ; Cafe-au-Lait Spots/diagnosis* ; Genes, Neurofibromatosis 1 ; Retrospective Studies ; Frameshift Mutation

Bone Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Cafe-au-Lait Spots ; diagnosis ; pathology ; Child ; Diagnosis, Differential ; Female ; Fibroma ; diagnosis ; diagnostic imaging ; pathology ; Humans ; Neurofibromatosis 1 ; diagnosis ; Radiography ; Syndrome

A case of optic nerve glioma is presented. This 11 years old Korean boy was seen because of proto nasion of the risht eye ball of 2 months duration. Vision of the right eye was reduced to 20/30 and optic disc showed blurring of the margin with some venous engorgement. Visual field showed enlarged blind spot of Mariotte and contraction of temporal field of vision in the right eye. Radiograpic study of the optic foramina was normal. There was no cafe-au-lait spot. On April 19. 1967. the orbit was exposed through anterior approach because of the tumor possibly invading the intraocular pertion. On operating procedure it was easy to remove the tumor and optic nerve by aspiration of 3 cc. of vitreous using 19 gauge needle. We confirmed a diagnosis of astrocytoma of the optic nerve in pathologic study. A year later the removal of the tumor, the patient was in good health and there had been no recurrence. A review of the literature of recent years related to glioma of the optic nerve, particularly its signs, symptoms, diagnosis and treatment was added.
Astrocytoma ; Cafe-au-Lait Spots ; Child ; Diagnosis ; Glioma ; Humans ; Hyperemia ; Male ; Needles ; Optic Disk ; Optic Nerve Glioma* ; Optic Nerve* ; Orbit ; Recurrence ; Visual Fields

Neurofibromat osis is a familial discase with widespread manifestations such as lesions of the skin, tumors of the central and peripheral nervous system and abnormalities of bone. The presence of at least two of the following features was considered for diagnostic criteria; positive family history, positive blopsy, a minimum of six cafe-au-lait spots each with a diameter of at least 1.5 cm and multiple subcutaneous nodules. From January 1971 to December 1979, 17 patients of neurofibromatosis and 30 patients of neuro- fibroma treated at Yonsei Medical Center were clinically analized for the study and the results obtained from this study were as follows; 1. Positive family history was obtained In 2 per cent of cases with neurofibromatosis. 2. Cafe-au-lait spots or tumors were the most common findings in neurofibromatosis. The bone changes were presented in 8 patients(45 per cent) and scoliosis has been In 62.5 per cent of them. 3. The location of the neurofibroma was variable. Central nervous sustem was involved in 40.4 per cent and peripheral nervous system in 59.4 per cent. 4. Myelography and determinations of the cerebro-spinal fluid protein concentration led us to a correct diagnosis of the neurofibroma which involved the spinal cord. For the treatment of the neurofibroma, 9 out of 30 patients were performed laminectomies and excision of the intradural masses, and one of them was flxed the spinous processes with a plate and wires after laminectomy for prevent spinal instability. 5. in 3 patients with progressive scoliosis, the best results were obtained with early Harrington instrumentation and posterior fusion.
Cafe-au-Lait Spots ; Chymopapain ; Clinical Study ; Diagnosis ; Fibroma ; Humans ; Laminectomy ; Myelography ; Neurofibroma ; Neurofibromatoses ; Peripheral Nervous System ; Scoliosis ; Skin ; Spinal Cord

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).
Thyroid Diseases/etiology/genetics ; Puberty, Precocious/etiology/genetics ; Mutation ; Male ; Hyperprolactinemia/etiology/genetics ; Humans ; GTP-Binding Protein alpha Subunits, Gs/*genetics ; Fibrous Dysplasia, Polyostotic/*diagnosis/genetics/pathology ; Cafe-au-Lait Spots/etiology/genetics ; Adult ; Acromegaly/*diagnosis/etiology

Neurofibromatosis type 1, an autosomal dominant disorder, is clinically characterized by the presence of cafe-au-lait spots and cutaneous neurofibromas. Malignancy is a frequently cited and feared complication of neurofibromatosis. Neurofibromatosis has been reported to be associated with some CNS tumors, neurofibrosarcoma, pheochromocytoma, and nonlymphocytic leukemia. Also malignant lymphoma may develop in patients with neurofibromatosis. In Korea, only a case of lung cancer and a case of pheochromocytoma have been reported to develop in patients with neurofibromatosis type 1. Recently, we experienced a case of malignant lymphoma involving the stomach in a 70-year-old woman with neurofibromatosis type 1. An esophagogastroduodenoscopy revealed a 5 cm sized ulcerofungating mass on the greater curvature of the upper body. Histologic diagnosis of the biopsied specimen was B-cell diffuse small and large cell lymphoma. This case illustrates that malignant lymphoma should be included in the differential diagnosis of gastric tumors in patients with neurofibromatosis type 1.
Aged ; B-Lymphocytes* ; Cafe-au-Lait Spots ; Diagnosis ; Diagnosis, Differential ; Endoscopy, Digestive System ; Female ; Humans ; Korea ; Leukemia ; Lung Neoplasms ; Lymphoma ; Lymphoma, B-Cell* ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibrosarcoma ; Pheochromocytoma ; Stomach*