Discover the most talked about and latest scientific content & concepts.

Concept: Friedrich Daniel von Recklinghausen


A 62-year-old female with neurofibromatosis type 1 (NF1; also von Recklinghausen’s disease) was diagnosed with a giant, thick-walled tubular mass, mainly located in the right abdominal area on computed tomography, following an examination for intermittent abdominal pain and increasing abdominal distension. According to the clinical manifestations and imaging features, the giant tubular mass was considered most likely to be a dilated fallopian tube associated with infection, while the possibility of obstructed bowel loops was excluded. However, the subsequent laparotomy revealed a giant appendix, caused by a large neurofibroma in the root region of the appendix, which occluded the lumen. Neurofibroma of the appendix is extremely rare, even in patients with NF1. To the best of our knowledge, only three such cases have previously been reported in the English literature to date.

Concepts: Neurology, Abdominal pain, Bowel obstruction, Neurofibromatosis type I, Neurofibromatosis, Abdominal distension, Friedrich Daniel von Recklinghausen, Café au lait spot


The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi’s homuncio (“Monstrorum Historia”, 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century “Buffon’s Histoire Naturelle” and “Cruveilhier’s Anatomie Pathologique du Corps Human”. The first English language report on NF1 was made by Akenside in 1768 and the first systematic review by Robert William Smith in 1849, while Virchow’s pupil, Friedrich Daniel von Recklinghausen, in 1882, was the first to understand the origin of skin tumors and to name them neurofibromas. The touching story of Joseph C. Merrick (the “Elephant man,” (who had Proteus syndrome and not NF1), in 1884, played an important role in the later misconception of NF1, as did the novel by Vicotr Hugo on the hunchback Quasimodo. The studies by van der Hoeve (1921), Yakovlev and Guthrie (1931), and Van Bogaert (1935), categorized “von Recklinghausen’s” neurofibromatosis among the phakomatoses and the neurocutaneous syndromes. The first known mention of an acoustic neuroma (at autopsy) is attributed to Eduard Sandifort (1777 AD) while John H. Wishart made the earliest autoptic description of neurofibromatosis type 2 (NF2), in 1822, in a 21-year-old man with bilateral acoustic neuromas, who manifested signs since his infancy (Wishart subtype NF2). Smith likely described the first case of schwannomatosis in 1849. Older, Virchow, von Recklinghausen, and Verocay first classified “neuromas” and Masson and Penfield first used the word “schwannoma” taking it from Theodore Schwann’s works. In 1903 Henneberg and Koch described NF2 in detail. Young, Eldridge, and Gardner, in the late ‘70, established NF2 as a distinct familial entity (Gardner subtype NF2). Schwannomatosis, the late entry of the different forms of neurofibromatosis, was credited in the middle '90.

Concepts: Neurology, Neurofibromatosis type I, Ancient Egypt, Neurofibromatosis, Schwannoma, Friedrich Daniel von Recklinghausen, Joseph Merrick, Ulisse Aldrovandi


Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology.

Concepts: Cancer, Genetic disorder, Neurology, Genetic disorders, Neurofibromatosis type I, Neurofibromatosis, Friedrich Daniel von Recklinghausen, Café au lait spot


Malignant peripheral nerve sheath tumor (MPNST) of the liver is rare. Most cases of MPNST are accompanied by neurofibromatosis 1 (NF-1, von Recklinghausen’s disease). We herein report an autopsy case of MPNST without NF-1 and review the pertinent literature. The tumor occupied the entire lobe of the liver, and was 18 cm in maximum diameter. The tumor revealed necrosis and cystic changes with hemorrhage and it had also metastasized to the peritoneum. Microscopically, the tumor was composed of pleomorphic spindle cells with hyperchromatic nuclei and mitogenic figures. The spindle cells stained positive for both S-100 and vimentin antibodies.

Concepts: Cancer, Liver, Action potential, Neurofibromatosis type I, Malignant peripheral nerve sheath tumor, Nerve sheath tumor, Friedrich Daniel von Recklinghausen, Café au lait spot


Colonic diffuse ganglioneuromatosis is a benign neoplastic condition characterized by disseminated, intramural, or transmural proliferation of neural elements involving the enteric plexuses, sometimes associated with von Recklinghausen’s disease and other multiple tumor syndromes. Colonic diffuse ganglioneuromatosis is usually large, ranging from 1 to 17 cm, and thus can distort the surrounding tissue architecture as well as infiltrate the adjacent bowel wall. However, colonic diffuse ganglioneuromatosis is an exceptional finding in adults and only individual cases are reported in the literature. Herein, we report two unusual cases of adult patients with colonic diffuse transmural ganglioneuromatosis presenting as a large subepithelial tumor.

Concepts: Cancer, Digestive system, Benign tumor, Report, Colon, Neurofibromatosis type I, Adult, Friedrich Daniel von Recklinghausen


Neurofibroma is a benign peripheral nerve sheath tumor, usually found in association with Von Recklinghausen’s disease of the skin. The solitary variant commonly occurs in the head and neck region, mostly affecting young adults. They are characteristically slow-growing masses, often asymptomatic and have been found most commonly in the tongue and buccal mucosa. A recent literature review highlighting incidences in various other locations has been tabulated here. We also report a case of a solitary neurofibroma of the gingiva in a 72-year-old male of 15 years duration. Histopathology revealed a fibromyxoid stroma with sinuous nerve bundles with buckled nuclei.

Concepts: Head and neck anatomy, Head and neck, Mouth, Action potential, Neurofibromatosis type I, Nerve sheath tumor, Neurofibroma, Friedrich Daniel von Recklinghausen


Gastrointestinal manifestations occur in up to 25% of patients with neurofibromatosis type 1. This paper reports all published cases of acute intestinal obstruction due to neurofibromatosis type 1 and identifies mechanisms of obstruction, the nature of the tumour and outcome.

Concepts: Neurofibromatosis type I, Friedrich Daniel von Recklinghausen, Café au lait spot


Diffuse neurofibromatosis/ ganglioneuromatosis, solitary/ plexiform neurofibroma, periampullary carcinoids and gastrointestinal stromal tumour (GIST) are the main gastrointestinal manifestations of neurofibromatosis type 1 (NF-1, von Recklinghausen disease). Inflammatory (juvenile-like) polyps still have not been recognized as specific gastrointestinal manifestations of NF-1.

Concepts: Neurology, Neurofibromatosis type I, Gastrointestinal stromal tumor, Neurofibromatosis, Neurofibroma, Dermal and subcutaneous growths, Friedrich Daniel von Recklinghausen, Café au lait spot


With a prevalence of 1 in 3,000 births, neurofibromatosis type 1 (NF1) is one of the most common genetic disorders and is characterized by an uninhibited expansion of neural tissue. Occasionally, severe deformities occur, but frequently considerable cosmetic disfigurement is caused by the development of hundreds of benign cutaneous neurofibromas. The objective of this study was to evaluate the erbium:yttrium-aluminium-garnet (Er:YAG) laser as a therapeutic option for the removal of multiple cutaneous neurofibromas. In this prospective, comparative, in vivo study, 15,580 neurofibromas (44 operations on 21 patients) were removed via electrosurgery, CO2- or Er:YAG laser ablation. In 12 adjacent test areas, we compared the zone of thermal necrosis, the postoperative pain, the time to reepithelialization, the duration of postoperative erythema and the cosmetic outcome of these surgical methods. When compared to electrosurgery and CO2 laser ablation, the Er:YAG laser ablation outperformed the other methods of tumor removal. Rapid healing by second intention as well as the minimal discomfort and scar formation following Er:YAG laser ablation were noted. After 36 months of follow-up, permanent dyspigmentation was rare and hypertrophic scarring was not observed. Er:YAG laser vaporization of multiple cutaneous neurofibromas is a simple and rapid procedure that results in significantly better cosmetic results than CO2 laser treatment or electrosurgery.

Concepts: Scar, Laser, Neurology, Carbon dioxide laser, Genetic disorders, Neurofibromatosis type I, Laser ablation, Friedrich Daniel von Recklinghausen


Neurofibromatosis type 1 (NF-1) is one of the most common autosomal dominant disorders affecting humans. Patients with NF-1 may present with characteristic orthopaedic manifestations such as scoliosis, congenital pseudoarthrosis and limb hyperttrophy. Dislocation of the hip associated with NF-1 is a rare occurrence. There is a relative paucity of reported cases of pathological hip dislocation in patients with NF-1, with 13 documented cases found in the published literature. Seven dislocations occurred following trivial trauma and 6 cases were deemed atraumatic. We report a case of hip dislocation in a 26 years old male with NF-1 and scoliosis, that was treated successfully by closed reduction and skin traction.

Concepts: Genetic disorder, Human, Hospital, Orthopedic surgery, Neurofibromatosis type I, Neurofibromatosis, Friedrich Daniel von Recklinghausen, Café au lait spot