[Cafe-au-lait spots in the diagnosis of pheochromocytoma].
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Adrenal Gland Neoplasms↗
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A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from a common gene.
A large kindred has two coexistent neurocutaneous syndromes: Certain members appear to have von Recklinghausen's neurofibromatosis (cutaneous neurofibromata, cafe-au-lait spots), others have von Hippel-Lindau's disease (angiomatosis retinae, renal cell carcinomas, pancreatic cysts), and at least one individual has a combined syndrome (neurofibromata, cafe-au-lait spots, pheochromocytomas, cerebellar hemangioblastoma, renal cell carcinoma, pancreatic cysts). Inheritance may be through either two separate genes segregating coincidentally in this family, or a unique single gene with pleiotropic expressivity.
Adolescent↗
Neurofibromatous scoliosis. Natural history and results of treatment in thirty-seven cases.
Of 400 patients with the diagnosis of neurofibromatosis on their hospital records, 141 actually had the disease. The presence of at least two of the following features was considered diagnostic: positive family history; positive biopsy; a minimum of six cafe-au-lait spots, each with a diameter of at least 1.5 centimeters; and multiple subcutaneous neurofibromas. Scoliosis was present in thirty-seven patients (26 per cent), most commonly associated with cafe-au-lait spots (thirty-five patients). In many of the patients with scoliosis there were associated medical and surgical problems. Although no standard pattern of spinal deformity could be identified, a sharp single right thoracic curve involving more than five vertebrae was the most common. For the whole group the initial measurement of the scoliosis averaged 42 degrees. Double curves were more sever, buth kyphosis was uncommon and no cases of paraplegia were recorded. In patients with progressive scoliosis, the best results were obtained with early Harrington instrumentation and posterior spine fusion. Progression of the scoliosis was observed both before treatment and postoperatively. The amount of progression was not necessarily related to the severity of other manifestations of neurofibromatosis, and was not significantly dependent on the length of the curve.
Adolescent↗
Huge plexiform neurofibroma of the head and liver--case report.
Neurofibromatosis (NF) is a hereditary autosomal dominant disorder. Von Recklinghausen first described NF in 1882, which is now classified as Neurofibromatosis 1 (NF-1). NF-1 is the most commonly encountered NF which affects 1 in 4000 persons. Clinical manifestations of NF-1 include: generalized cutaneous neurofibroma, pigmented skin patches (cafe-au-lait spots), pigmented iris hamartoma (Lisch nodules), skeletal abnormally, CNS tumors, etc. The subject of this case study is a young adult male with a huge plexiform neurofibroma involving both the liver and head regions. The head tumor measured 10 x 8 x 3.5 cm3 in size, weighted approximately 180g with overlying hyperpigmented skin and an underlying congenital skull defect. A CT scan and MRI of the head and neck revealed a well defined lobulated tumor and deformed external ear. A abdominal sonogram, CT scan and MRI showed a huge plexiform neurofibroma with liver invasion. Lisch nodules and multiple cafe-au-lait spots were also found. Surgical removal of the head tumor along with an external ear reconstruction was performed. Satisfactory cosmetic results and improved hearing were achieved.
Adolescent↗
Retinal manifestations of neurofibromatosis. Diagnosis and management.
Five patients presented with vision-threatening retinal tumors and systemic signs of neurofibromatosis, including neurofibromatosis type 1 (four patients) and familial cafe-au-lait spots (one patient). These tumors included large retinal astrocytic hamartomas, multiple retinal capillary hemangiomas, and combined hamartomas of the retina and retinal pigment epithelium, which resulted in rubeotic glaucoma, vitreous hemorrhage, and retinal detachment. Surgical therapy included retinal cryopexy, xenon and argon photocoagulation, scleral buckling, and pars plana vitrectomy with excisional retinal biopsy. Retinal tumors may result in marked visual loss in patients with neurofibromatosis, and vitreoretinal surgery may restore useful vision in some of these patients.
Adolescent↗
Familial glioblastoma with hepatic focal nodular hyperplasia.
Two siblings succumbed to glioblastoma multiforme, associated with hepatic focal nodular hyperplasia and cafe-au-lait spots. One sibling had syndactyly and multiple colonic polyps, while the other had an angiomatous malformation in the brain. Their mother died of myasthenia gravis. The findings suggest a hamartomatous syndrome of malformations that predisposes to brain tumors.
Adolescent↗
Neurofibromatosis and fragile-X syndrome in the same patient.
We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease.
Child, Preschool↗
Megalocornea and mental retardation syndrome: a new case.
We report on a new case of the megalocornea mental retardation syndrome, first described by Neuhäuser et al. [1975]. Our patient had mental and motor retardation, megalocorneae, short stature, congenital hypotonia, frontal bossing, micrognathia, a cafe-au-lait spot, and ear anomalies. A literature survey is provided.
Abnormalities, Multiple↗
Multiple radiolucent areas of the jaw.
A case of neurofibromatosis, or von Recklinghausen's disease, was presented. The skin manifestations include the development of numerous, variable sized, smooth-surfaced nodules (benign neural tumors) and asymmetric areas of hyperpigmentation called cafe-au-lait spots. Oral manifestations are not always apparent but, when they do occur, include multiple, discrete, nonulcerated mucosal nodules (typically benign neural tumors). Intraosseous tumors (usually neurofibromas) occasionally develop in the mandible as was reported in this patient. Clinicians should be aware of the characteristics of this hereditary disease, especially the possibility of malignant transformation of the neural tumors.
Adolescent↗
Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia--a case report.
Congenital ectodermal dysplasia is a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. Our patient with classical X-linked anhidrotic ectodermal dysplasia (AED) showed unusual skin manifestations including cafe-au-lait spots on the face, neck, buttock, and lumbo-sacral region; depigmentation of mucous membrane of the lower lip, buccal cavity, and left arm; absence of tragii; plantar keratoderma; and kyphosis of lower cervical and upper thoracic spines which have not been previously reported in the world literature.
Adult↗
Neonatal neurofibromatosis: unusual manifestations with malignant clinical course.
A family with neurofibromatosis is reported in which the proband was an infant in whom the diagnosis was established at birth. In this case, the presenting symptom was a large tumor of the tongue and macrocephaly. Cafe-au-lait spots appeared early, as did additional subcutaneous tumors, with skeletal involvement and severe psychomotor retardation. The rapid growth of the tumor, its spread within the mediastinum, neck and oral cavity, led to a strangulating death at one year of age. The disease originates from early embryonic involvement of the neural crest and from tissues derived from its caudal end. It is probably caused by a single pleiotropic gene transmitted as an autosomal dominant trait, with varying expression of the disease in different members of the same family.
Adolescent↗
E.N.T. manifestations of Von Recklinghausen's disease.
Von Recklinghausen's Disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. Case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "Elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.
Adult↗
Head and neck manifestations of neurofibromatosis.
Neurofibromatosis is a neurocutaneous systemic disease that occurs in 1:2500 to 3300 live births. Prevalence figures have shown it to be as common as cystic fibrosis or Down's syndrome and more than twice as common as muscular dystrophy. In this study, our experience with 257 cases of neurofibromatosis seen since 1972 is reviewed. Intracranial, bony, and extracranial anomalies are described in the 223 patients (87%) who presented with, or ultimately developed, head and neck manifestations of the disease. The most common intracranial tumor was optic glioma, found in 35 patients (14%), 19 younger than 10 years of age. Acoustic neuromas were diagnosed in eight individuals (3%) and were bilateral in three. The most common skull anomaly was macrocephaly, noted 78 times (30%). Absence of the sphenoid wing occurred in 11 patients (4%) and 19 others (7%) had facial asymmetry due to other skull abnormalities. Extracranial manifestations included neurofibromas of the plexiform and nonplexiform type, Lisch nodules, and cafe-au-lait spots.
Adolescent↗
Cutaneous melanoma in a patient with neurofibromatosis.
Although neurofibromatosis and cutaneous melanoma are both diseases of neuroectodermal origin, reports of their association are rare. The case history of a patient with histologically documented neurofibromatosis and a nodular melanoma unrelated to a cafe-au-lait spot or congenital nevus is reported, and the literature reviewed. The appearance of only one patient with neurofibromatosis in a series of 900 patients with melanoma suggests that these diseases are probably not associated with greater frequency than that predicted by chance alone.
Adult↗
[A case of lung cancer in a patient with von Recklinghausen's disease].
A 57-year-old man was admitted to our hospital for further investigation of an abnormal shadow in his chest X-ray. He had cafe-au-lait spots and multiple subcutaneous neurofibromas and was diagnosed as having von Recklinghausen's disease. Bronchofiberscopy was performed, but an adequate specimen was not obtained. Therefore, percutaneous needle biopsy was performed, and the specimen showed poorly-differentiated adenocarcinoma. The left subclavian artery was deviated on aortography, therefore, neoadjuvant chemotherapy with CDDP & VDS was performed. He subsequently underwent left upper lobectomy. Pathologically, the tumor cell showed necrosis and scarring. Including this case, there have been 11 reports of von Recklinghausen's disease associated with lung cancer in the Japanese literature. Adenocarcinoma was observed in 72.9% of cases, and poorly-differentiated tumor was observed in 7 out of 8 patients with distinct tumor differentiation.
Adenocarcinoma↗
von Recklinghausen's disease with involvement of right parapharyngeal space: report of a case.
A 42-year-old patient of von Recklinghausen's disease suffered from odynophagia, trismus and prominent gag reflex for seven months. Physical examination revealed a firm, nonpulsatile submucosal mass in the right oropharynx. CT scan showed a huge, well-defined mass in the right parapharyngeal space and intracranial involvement was excluded. Pathological examination of the tumor after surgical excision demonstrated a neurofibroma about 7.5 x 4 x 3 cm in size, which was consistent with skin neurofibroma. After surgery the patient was free from the initial complaints and has remained well to the present. von Recklinghausen's disease, also known as neurofibromatosis type I, is characterized by numerous skin neurofibromas, cafe-au-lait spots, etc. It has quite diverse complications occurring in the head and neck region. Parapharyngeal space neurofibroma is one of the rare complications of neurofibromatosis type I, occurring in less than 5% of all parapharyngeal space neoplasia.
Adult↗
Combined hamartomas of the retinal pigment epithelium and retina.
Combined hamartomas of the retinal pigment epithelium (RPE) and retina are rare, benign lesions usually occurring in individuals with no underlying systemic abnormalities. The authors report two cases of combined hamartomas of the RPE and retina. In one case, combined macular hamartomas of the RPE and retina were present in a 5-month-old infant. This is the earliest reported case of bilateral macular involvement. In both patients, multiple cafe-au-lait spots were present, and the diagnosis of neurofibromatosis was considered. The authors suggest that combined hamartomas of the RPE and retina are congenital lesions and may be one of the ophthalmic manifestations of the phakomatoses.
Child↗
[A case of Recklinghausen's disease associated with multiple emphysematous bullae and lung cancer].
A 36-year-old man was admitted with cough and sputum. He had cafe-au-lait spots and multiple subcutaneous neurofibromas. Chest X-ray revealed multiple emphysematous bullae in bilateral upper lobes and a tumor in the bulla of the right upper lobe. Needle aspiration biopsy of the tumor showed small cell carcinoma. Although chemotherapy and radiation resulted in decrease in tumor size, it subsequently increased in size and he died 11 months after admission. Including this case there have been 7 reports of Recklinghausen's disease associated with multiple lung cysts and 8 reports with lung cancer in Japan. However, cases with lung cysts and cancer are very rare. The cancer of this case was considered to be associated with emphysematous bulla rather than Recklinghausen's diseases.
Adult↗