Recklinghausen's Neurofibromatosis Research Articles

Immediate Nipple Areolar Complex Reconstruction in A Patient With von Recklinghausen's Neurofibromatosis: A Clinical Case Report

Von Recklinghausen's neurofibromatosis is an autosomal dominant condition commonly characterized by café au lait patches, axillary freckling, multiple neurofibromas, and Lisch nodules. In this context, we present a complex case involving a 32-year-old female who suffered from severe neurofibromatosis, leading to a significant impact on her bilateral nipple-areolar complexes. Furthermore, we illuminate the subsequent outcome of her immediate reconstruction procedure.

PHACOMATOSES. CLARIFICATION OF GENETIC ORIGIN IN NEUROFIBROMATOSIS TYPES 1 AND 2 BY MOLECULAR-GENETIC DIAGNOSTICS AND GUIDELINES FOR THE APPOINTMENT OF SPECIFIC TREATMENT

The article provides information on the etiology and pathogenesis of phacomatoses, presents the classification, clinic and features of the course of their various forms. Details are given about such forms as NF1 (Recklinghausen neurofibromatosis) and NF2 (schwannomatosis). Due to the fact that somatic mosaicism somewhat complicates the work of molecular genetic diagnostics (MGD), the tissue allocated for testing should be selected correctly and laboratory methods with high sensitivity should be used.

Malignant spiradenoma in a patient with Recklinghausen syndrome: a potential association

Recklinghausen syndrome or neurofibromatosis type 1(NF1) is a hereditary condition transmitted with a dominant autosomal inheritance pattern. It’s a systemic disorder characterized by involvements of skin, nerves, bone, soft tissues, iris and nervous system. Specifically a mutation of one allele of the oncosoppressor gene NF1 is the cause of the syndrome. Manifestations of neurofibromatosis include: benign tumors like neurofibromas, pheocromocytoma, juvenile xanthogranulomas, Lisch nodules, cafe-au-lait macules and freckles. Neurofibromatosis also correlates with an increased risk for malignant tumors like malignant melanoma, leukemia, brain gliomas. In this manuscript we report the association of NF1 with a malignant spiradenoma. A literature review has been made to investigate a possible correlation between these two entities.

Spinal Deformities in Romantic Operas.

: The librettos of several of the most famous Romantic operas contain references to disease. These operas can serve as valuable sources of information regarding how spinal deformities were understood during the nineteenth century by physicians and lay persons alike. Original librettos of the operas "Rigoletto" (1851) by Giuseppe Verdi (1813-1901) and "La Esmeralda" (1836) by Louise Bertin (1805-1877) were analyzed. In both operas, spinal deformities of Rigoletto and Quasimodo are a central issue. In detail, Quasimodo could suffer from von Recklinghausen's neurofibromatosis, while Rigoletto could be affected by severe adolescent idiopathic scoliosis. The plays are an expression of the nineteenth century attitude toward deformity: the hunchbacks are ridiculed and excluded from the society due to their deformity. Thus, they are forced by society to act as ugly and evil beings. Although both Rigoletto and Quasimodo show an intense love, at the end of each opera, they are defeated by loss of this love. This is an evident sign that, despite its willingness to tackle the subject, nineteenth-century society was not still ready to attribute success or human value to people affected by disabilities.Level of Evidence: 5.

Aggressive central giant cell granuloma of the maxilla in a patient with neurofibromatosis type 1 — case report and review of literature

Background: Central giant cell granuloma (CGCG) is a benign osseous lesion that predominantly involves jaws with variably aggressive behaviour. It characterised by accumulation of multinucleated giant cells in a background of cellular vascular fibrous tissue and spindle-shaped stromal cells. Neurofibromatosis type 1 (NF-1) is an autosomal dominant trait associated with multiple neurofibromas, cafe-au-lait pigmented skin lesions, optic nerve glioma, Lisch nodules and distinct osseous dysplasia. In 1971 Kerl reported multiple giant cell granulomas in a patient with Recklinghausen's neurofibromatosis, few literatures showed this rare coincidence. Objectives: We report a case of NF-1 with aggressive maxillary CGCG and reviewed on the proposed coincidental association or true genetic linkage. Methods: A complete search on the web was done and all the related articles studied and concluded. Findings and Conclusion: In NF-1 patients genetic drawbacks such as NF-1 haploinsufficiency or underling mechanisms that cause decreased neurofibromin function, may result in decreased bone ability to respond to functional demands, thus the skeleton is more prone to develop intraosseous defects.

Small Bowel Obstruction Due to Gastrointestinal Neurofibromas and Lipomas

The most known manifestation of neurofibromatosis Recklinghausen NF-1 is cafe-au-lait spots on the skin, but up to 25% of patients with NF-1 have gastrointestinal manifestations, and only 5% of the gastrointestinal manifestations of NF-1 will require surgical treatment. We report a rare case of a 73-year-old woman, who five times earlier has undergone bowel resection, due to intussusception and ileus. The patient was admitted to the hospital due to abdominal pain. A computed tomography scan showed progression of the almost disseminated tumor growth of neurofibromas and lipomas of the small intestinal wall. Clinical manifestions showed the ileus required an operative treatment with a sixth small bowel resection. Small bowl obstruction caused by neurofibromas is a rare manifestation of a rare disease. J Med Cases. 2014;5(1):1-3 doi: http://dx.doi.org/10.4021/jmc1579w

Cerebral pseudovasculitic lesion associated with von Recklinghausen's neurofibromatosis: a case report

A child with neurofibromatosis type 1 (NF1) with headache was submitted to magnetic resonanace imaging and a pseudovasculitic lesion was found. Vascular lesions are uncommon in patients with NF1 and our case highlights an even more rare feature of this form of vascular disease.

Manifestations orthopédiques de la neurofibromatose de Von Recklinghausen

Summary Objective Von Recklinghausen's neurofibromatosis is a dominant autosomic genetic disease characterized by different clinical manifestations. The goal of this work was to study its orthopaedic manifestations and to show the characteristics of their management. Method A retrospective study was carried out on 15 patients having a Von Recklinghausen's neurofibromatosis. For each patient, different orthopaedic manifestations and their evolution after treatment were analyzed. These manifestations were classified in spinal deformities, pseudarthrosis of long bones and tumours of the peripheral nerves. Results The spinal deformities were observed in 9 cases. A dystrophic scoliosis was observed in 6 patients with an average angle of 50° and was associated to a kyphosis in 5 patients. The treatment was surgical by posterior arthrodesis in 2 cases and circumferential arthrodesis in 2 cases. The congenital curves and pseudarthroses of leg were observed in 5 cases, localized at the lower third of the leg in all cases. An Ilizarov external fixator with segmental osseous transport was carried out in 2 patients. The duration of the external fixator was 23 months ½ with 5 interventions in each case. Four plexiform neurofibromas and 3 nodular neurofibromas were observed. A transformation into neurofibrosarcoma was found in 2 patients. In one case, a resection without functional sacrifice was carried out and in the other case the patient was dead before the resection. Conclusion The orthopaedic manifestations of Von Recklinghausen's neurofibromatosis are frequent, varied and have a difficult management. The functional and sometimes vital prognoses are challenging.

Treatment of congenital pseudarthrosis of the fibula by periosteal flap

Pseudarthroses of the fibula are frequently associated with a pseudarthrosis of the tibia, but they can be isolated. To treat them it is usually necessary to have ankle alignment at skeletal maturity. We report six cases of fibular pseudarthrosis treated with periosteal flap, all having Recklinghausen's neurofibromatosis type 1. The mean age at the time of treatment was 4 years. Four children were diagnosed with isolated congenital pseudarthrosis of the fibula, with a simple curvature of the tibia, and two children had an associated pseudarthrosis of the tibia that was treated earlier. Treatment of the pseudarthrosis of the fibula was indicated to prevent a fracture of a curved tibia or to prevent ankle valgus. The technique of periosteal flap was different: in one case, the periosteum was taken from the fibular diaphysis as a free pedicled flap; in two cases, the flap was taken with its proximal pedicle; and in three cases, the flap was taken from the fibular diaphysis with its distal pedicle and returned to the pseudarthrosis. We analyzed the different operative techniques used for each patient, the complications and the functional result to follow-up. We did not use any osteosynthesis in two cases; a centro-medullary wire and a screwed plate were used in two cases. The pseudarthrosis healed in four cases in a mean period of 10 months. Healing was faster in the cases treated with distal pedicled returned periosteal flaps, a relatively simple technique not requiring vascular sutures. The distal pedicled returned periosteal flap permits good mobility of the periosteum and gives the best healing times. This treatment is indicated for young children to prevent a fracture and a pseudarthrosis of a dysplastic or congenital curvature of the tibia, or after treatment of congenital pseudarthrosis of the leg after healing of the tibia to prevent ankle instability and severe ankle valgus formation.

A History of von Recklinghausen's NF1

While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves. The neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name of the disorder in 1882. NF1 research widely increased between 1909 and 1990, due to the erroneous diagnosis of the Elephant Man, Joseph Merrick.

Secondary Esophageal Pseudoachalasia Associated with Von Recklinghausenʼs Neurofibromatosis

Purpose: Von Recklinghausen's disease, or Neurofibromatosis (NF) type 1, is an autosomal dominant genetic disorder with an incidence of approximately 1 in 2600 individuals. There is GI involvement in 25% of patients affected and is most often found in the small bowel or colon. Rarely, it is associated with motility disorders such as achalasia. We report a patient with pseudoachalasia secondary to NF involving the esophagus. A 48 year-old man presented with a history of progressive dysphagia to solid food and liquids. He also had frequent episodes of regurgitation after eating and subsequently developed a food phobia with a 15-pound weight loss over 2 months. He had been diagnosed previously with NF with multiple cutaneous neurofibromas. On physical exam, his skin was diffusely covered with dermatofibromas of various sizes with evidence of dehydration and weight loss. Contrast-enhanced CT scan demonstrated marked dilation of the esophagus with smooth tapering from the distal esophagus to a circumferencially thickened gastroesophageal (GE) junction. EGD found multiple nodular entities surrounding the GE junction (Figure 1). Pathology revealed squamocolumnar junctional mucosa with mild chronic inflammation without intestinal metaplasia or dysplasia. A barium swallow was consistent with achalasia. Manometric examination confirmed the diagnosis with an elevated resting lower esophageal sphincter pressure of 50-70 mmHg (normal <25 mmHg) and aperistalsis. The patient subsequently underwent a laparoscopic Heller esophageal myotomy with Dor fundoplication. Pathology revealed chronic inflammation with no changes in ganglion cell number or myenteric nerves. This is the fourth report of a motility disease as a result of Von Recklinghausen's NF. In conclusion, although most patients with Von Recklinghausen's disease have GI involvement of the small bowel and colon, it is also possible to have esophageal involvement and motility disorders. It is important for clinicians to be aware of the symptoms and signs of achalasia in these patients for early diagnosis and prevention to end-stage disease.Figure

Hereditäre und nichthereditäre syndromale gastrointestinale Stromatumoren

The majority of gastrointestinal stromal tumours (GISTs) present as solitary gastrointestinal masses in adults aged 50-70years. A small subset of GISTs (≤5%) occurs in the setting of familial or idiopathic multitumour syndrome. In decreasing order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), familial GIST syndromes resulting from germline mutations in c-Kit/PDGFRA and the Carney-Stratakis syndrome (hereditary GIST paraganglioma syndrome caused by germline mutations in the mitochondrial tumour suppressor gene pathway involving the succinate dehydrogenase subunits SDHD, SDHC and SDHB) represent the four most important GIST syndromes characterized to date. Since affected patients and their family members require special treatment and/or counseling and follow-up, early diagnosis and precise classification of this likely still underdiagnosed diseases is of the utmost importance. This review summarizes the pertinent clinicopathological and molecular features of the main GIST syndromes to facilitate their diagnosis and distinction from their non-syndromic mimics.

Multiple Aneurysmen intrakranieller Arterien bei Neurofibromatose von Recklinghausen Typ 1

We report on a 58 year old female patient with neurofibromatosis Recklinghausen type 1 (NF-1) in whom multiple intracranial aneurysms could be proven. Vascular changes in patients with NF-1 are frequent and concern primarily the aorta, the kidney arteries, the coronary and gastrointestinal arteries. Our case shows that in patients with NF-1 intracranial artery changes like aneurysms, maybe in need of treatment, are possible.

Segmental neurofibromatosis: A report of 3 cases

Neurofibromatosis is a genetic disorder of neural crest-derived cells that primarily affect growth of neural tissues. It is broadly divided into three categories: (a) von Recklinghausen's neurofibromatosis or NF-1, (b) bilateral acoustic neuroma (NF-2), and (c) all other neurofibromatoses, including alternate or atypical forms of the disease. The patients with generalized form of NF1 are characterized by multiple café-au-lait spots and neurofibromas and diagnosed easily. But when an individual has small number of lesions in a limited region of the body it could be neglected by the patient or not be recognized by the clinicians as a segmental form of neurofibromatosis. We describe three cases of segmental neurofibromatosis (SNF). These cases have been classified as segmental NF according to Riccardi's definition of SNF and classification of neurofibromatosis. Segmental form of NF may evolve into a complete form over time. Also, this disorder may be transmitted to the offspring's of these individuals. Hence genetic counseling of these individuals must include these facts.

Pelvic mass in von Recklinghausen's neurofibromatosis: diagnostic issues: a case report

BackgroundLeiomyomas are benign smooth muscle cell tumours. They are the most common uterine neoplasms, although they may also occur elsewhere, such as in the gastrointestinal and urinary tracts. Leiomyomas are uncommon in von Recklinghausen's neurofibromatosis (NF1). However, the literature suggests that the association of NF1 and leiomyomas or leiomyosarcoma is not entirely coincidental.Case ReportWe report here the unusual case of a 47-year-old woman with NF1 who presented menorrhagias and a hard, tender pelvic mass composed of uterine leiomyomas. Positron emission tomography/computed tomography disclosed an area of increased 18-fluorodeoxyglucose (FDG) uptake in the upper right part of the mass that raised the suspicion of malignancy. Magnetic resonance imaging revealed numerous intramural leiomyomas ranging from 1 to 6 cm, including a 6-cm submucosal leiomyoma that had abundant cellularity, matching FDG uptake. Abdominal hysterectomy was performed and microscopic examination confirmed the diagnosis of multiple benign smooth muscle tumours (uterine leiomyomatosis).ConclusionOur case illustrates several diagnostic issues that arose while exploring this pelvic mass. Moreover, the association of uterine leiomyoma and NF1 may not be fortuitous.

An unusual self-limited clonal Mott cell proliferation with lymphoplasmacytic lymphoma-like features in a child with the Wiskott–Aldrich syndrome and Von Recklinghausen's neurofibromatosis

Patients with the Wiskott–Aldrich syndrome are at high risk for development of lymphomas, which are predominantly extranodal and of the immunoblastic type. We present a case of a self-limited lymphoproliferation with features of lymphoplasmacytic lymphoma arising in a patient with the Wiskott–Aldrich syndrome. The patient also had stigmata of von Recklinghausen's neurofibromatosis. The tumor was composed of CD138+, IgG κ+, CD20−, PAX-5− Mott cells and CD5−, CD10−, CD19+, CD20+, CD43− small lymphoid B-cells that partially expressed CD23. The lymphadenopathy spontaneously resolved after a period of less than a year, and the patient had remained free of detectable lymphoproliferation for almost 4 years. He then developed Burkitt's lymphoma of the left parapharyngeal space. It is remarkable that both known lymphoproliferations with features of lymphoplasmatic lymphoma arising in patients with the Wiskott–Aldrich syndrome, this one and the previously described one, have spontaneously resolved. This observation is truly intriguing and requires further clinico-pathologic studies.

Plexiform neurofibroma: an unusual cause of GI bleeding and intestinal obstruction

Neurofibromatosis type 1 (NF1) is a genetic disorder commonly associated with cutaneous, neurologic, and orthopedic manifestations. It is the most frequent of the so-called hamartoses. This syndrome results from a mutation in or deletion of the NF1 gene. The gene product neurofibromin serves as a tumor suppressor, and decreased production of this protein results in a myriad of clinical features. GI stromal tumors, often multiple, with a predilection for the small bowel, may be seen in patients with NF1. 1 Hochberg F.H. Dasilva A.B. Gadalbini J. Gastrointestinal involvement in von Recklinghausen's neurofibromatosis. Neurology. 1974; 24: 1144-1155 Crossref PubMed Google Scholar We report an unusual case of gastric plexiform neurofibroma of a patient who presented with upper-GI bleeding and partial intestinal obstruction.

Thrombophlébite cérébrale : complication d’une parotidectomie chez un enfant

Introduction Onset of cerebral thrombophlebitis following parotidectomy in a child is reported. Observation A seven-year-old boy presenting apparently benign tumefaction in the right parotid gland area had undergone a conservative right total parotidectomy. The histological examination of the operative specimen suggested a diffuse neurofibroma as part of a clinical picture of Recklinghausen's neurofibromatosis. The immediate postoperative follow-up was marked by a pyramidal syndrome in the left hemibody, with the CT scan showing thrombophlebitis. After treatment combining an anticoagulant, a vasodilator and an antibiotic, the patient progressed toward partial recovery of left hemibody motor activity. Comments This cerebral vascular accident is related to the angiodysplasia encountered in Recklinghausen's disease. Anticoagulants initialized rapidly are the only demonstrated therapy to improve the prognosis in this type of complication.

Association of GIST, Breast Cancer and Schwannoma in a 60-Year-Old Woman Affected by Type-1 von Recklinghausen's Neurofibromatosis

Neurofibromatosis (NF1 or von Recklinghausen's disease) is a common autosomal dominant disease associated with a higher incidence of neoplasms than in the general population. We report the case of a 60-year-old woman affected by NF1 who was coincidentally diagnosed with a gastrointestinal stromal tumor, a breast carcinoma and a peripheral nervous system tumor.

Picture Quiz: Distinctive skin signs

A 48 year old man presented to the accident and emergency department with syncope and was admitted for further investigation. He had the signs shown in figures 1 and 2, which are well recognised clinical features of an inherited disorder. Photo of patient's back Close up of patient's back The condition neurofibromatosis encompasses at least two distinct diseases, neurofibromatosis type 1 (von Recklinghausen's neurofibromatosis) and neurofibromatosis type 2. The patient was diagnosed with neurofibromatosis type 2 on clinical grounds; his syncopal episode was incidental and unrelated. Neurofibromatosis type 1 was first described by RW Smith in 1849 and later in 1892 by Friedreich D von Recklinghausen. It is now recognised as the most …