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PubMed1986

Hypertelorism in neurofibromatosis.

In eight out of thirty-four patients with neurofibromatosis hypertelorism was seen. This hypertelorism was diagnosed by measuring the intercanthal distance and calculating the interpupillary distance from it. The high incidence of hypertelorism in our group of patients (24%) makes its direct association with neurofibromatosis feasible. Moreover, hypertelorism was found exclusively in neurofibromatosis patients with brain involvement (8 out 11) and therefore seems to herald a severe expression of Morbus Recklinghausen. The bones of the face and the base of the skull are mesenchymal structures of neural crest origin and skull dysplasias - e.g. hypertelorism - fit well into the neurocristopathy concept of neurofibromatosis. Its ease of clinical recognition and its presence at birth makes the hypertelorism an early diagnostic criterium.

Adolescent↗
PubMed2003

Adult height after cranial irradiation for optic pathway tumors: relationship with neurofibromatosis.

OBJECTIVE: Optic pathway tumors decrease adult height by central precocious puberty (PP) or hypothalamic-pituitary disorders, particularly growth hormone (GH) deficiency caused by the tumor, management of the tumor, or associated neurofibromatosis 1. The objective of this study was to evaluate the respective roles of these factors on disorders and adult height. STUDY DESIGN: Thirty-five patients with optic pathway tumors diagnosed at 6.4 +/- 0.6 years treated by cranial irradiation (30-56 Gy) reached adult height after treatment with GH alone (n = 16), gonadotropin hormone-releasing hormone analogue alone (n = 2), or both (n = 16). RESULTS: Central precocious puberty occurred before irradiation in four cases and after irradiation in 18. Eleven of the 17 patients with neurofibromatosis 1 had PP. Before irradiation, five of 21 patients lacked GH, zero of 21 lacked thyroid-stimulating hormone, and zero of 13 lacked adrenocorticotropin. After irradiation, 35 of 35 lacked GH, 28 of 35 lacked thyroid-stimulating hormone, and six of 35 lacked adrenocorticotropin; puberty was delayed in 15 patients. Adult height was -0.8 +/- 0.2 SD, below target height (0.2 +/- 0.2 SD, P <.0001), similar in patients with and without PP, but lower in those with neurofibromatosis 1 (-1.4 +/- 0.4 SD) than in those without (-0.3 +/- 0.3 SD, P =.04). CONCLUSIONS: Optic pathway tumors cause PP, but cranial irradiation causes most of the other hypothalamic-pituitary disorders. Adult height of patients given GH or gonadotropin hormone-releasing hormone analogue seems to depend on neurofibromatosis 1.

Body Height↗
PubMed1993

Von Recklinghausen neurofibromatosis and hematologic malignancies: 2 case reports in adulthood.

Von Recklinghausen's neurofibromatosis is a hereditary disease predisposing to distinctive malignant hemopathies. These often develop during early childhood and are characterized by particular cytologic subtypes: juvenile chronic myeloid leukemia, monosomy 7-associated myeloproliferative syndrome and myelomonocytic leukemia. The etiopathologic mechanism underlying this association begins to be elucidated: the neurofibromatosis gene behaves like a tumor suppressor gene; its inactivation by mutation results in activation of the corresponding oncogenes. We report here the cases of two late-aged adults with neurofibromatosis: the first developed acute myelogenous leukemia, the second polycythemia vera. Based on a review of the literature, we suggest that, in opposition to childhood, the association between neurofibromatosis and malignant blood diseases is not demonstrated in adulthood.

Aged↗
PubMed1988

Cutaneous malignant melanoma in a black patient with neurofibromatosis (von Recklinghausen's disease).

A unique case of a cutaneous malignant melanoma arising in a black man with a familial history of neurofibromatosis (von Recklinghausen's disease) is reported. Although neurofibromatosis is believed to be a disorder of neural crest origin that is associated with a number of different malignancies, a definite association of malignant melanoma with neurofibromatosis has not been reported. The presence of a malignant melanoma arising on the trunk of a black man suggests an association of cutaneous malignant melanoma and neurofibromatosis--a malignancy and genodermatosis, respectively--of ultimate neural crest origin.

Adult↗
PubMed2006

Hypertrophy of Pacinian corpuscles in a young patient with neurofibromatosis.

Hypertrophy of Pacinian corpuscles is a condition that has been reported very infrequently. It was thought not to be connected with neurofibromatosis. A 24-year-old female with a lifelong history of neurofibromatosis type 1, who presented with left ring finger pain and decreased sensation for over 1 year is reported. Histopathology showed hypertrophy of Pacinian corpuscles. Hypertrophy of Pacinian corpuscles should be considered in the differential diagnosis of any patient with persistent pain localized to the distal palm or digits. This is the first case reported in a patient with neurofibromatosis. The finding of this lesion in a patient with neurofibromatosis is somewhat intriguing, though the relationship of these two entities is unclear.

Adult↗
PubMed1991

Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis.

Skeletal lesions are not uncommon in von Recklinghausen neurofibromatosis. Most of them are considered to be dysplastic in nature. Association of osteomalacia or rickets with neurofibromatosis has been documented only rarely. Reported herein is a 40-year-old woman with known von Recklinghausen neurofibromatosis who presented with bone pain, multiple pseudofractures, marked increase in osteoid by bone biopsy, and hypophosphatemia with renal phosphate wasting. Treatment with oral phosphate and vitamin D was effective. A survey of the literature revealed that 34 similar cases have been reported in the past. Although the exact pathogenetic mechanism remains to be determined, osteomalacia in neurofibromatosis appears to be distinct from more common dysplastic skeletal affections of this disease, being characterized by later onset in adulthood as a rule, renal phosphate loss with hypophosphatemia, multiple pseudofractures in typical cases, and response to treatment with pharmacological dose of vitamin D with or without phosphate supplement.

Adult↗
PubMed1980

Neurofibromatosis, hypertension, and renal artery aneurysms.

A case of bilateral renal artery stenosis and aneurysms in association with neurofibromatosis and hypertension is discussed and the literature is reviewed. In patients with neurofibromatosis and hypertension, the association of pheochromocytomas is well known. The association of renal of renal vascular lesions must also be recognized. In children with neurofibromatosis and hypertension, renal artery stenosis is far more common than pheochromocytoma. In adults aneurysms often accompany the renal artery stenosis. Laboratory studies, as well as most intravenous pyelograms, have been normal and, therefore, unreliable for screening. Angiography is essential in the investigation of hypertension in patients with neurofibromatosis.

Aneurysm↗
PubMed2000

Modulation of spinal deformities in patients with neurofibromatosis type 1.

STUDY DESIGN: A consecutive case retrospective chart and radiographic review. OBJECTIVES: To determine the incidence of nine radiographic dystrophic features acquired during the process of modulation, and to analyze the statistical correlation of these acquired dystrophic features with clinical progression of a spinal deformity. SUMMARY OF BACKGROUND DATA: In patients with neurofibromatosis, spinal deformities with seemingly few initial dystrophic features have shown a tendency to acquire dystrophic changes during long-term follow-up periods. Similarly, deformities with dystrophic changes can acquire further dystrophic features. This phenomenon is termed "modulation," a feature unique to spinal deformities in neurofibromatosis. These dystrophic changes may evolve slowly or aggressively, and may spread to other regions as well. METHODS: A review was done of the clinical records, photographs, radiographs, and other imaging studies of 457 patients referred between 1982 and 1995 with the diagnosis of neurofibromatosis Type 1. One hundred twenty-eight patients were diagnosed with a spinal deformity. Ninety-one patients who had a complete set of clinical and radiographic data were included in the study. Location and type of curve as well as the extent of spinal deformity were studied for their effect on the tendency for modulation. Initial spinal radiographs were analyzed for nine radiographic dystrophic features: rib penciling, vertebral rotation, posterior vertebral scalloping, anterior vertebral scalloping, lateral vertebral scalloping, vertebral wedging, spindling of the transverse process, widened interpedicular distance, and enlarged intervertebral foramina. Subsequent radiographs were analyzed critically for evolution, progression, or spread of these features. Correlation of acquisition in these dystrophic features with clinical progression in the spinal deformity, as measured in increments of scoliosis and kyphosis, was analyzed. RESULTS: In 81% of patients with spinal deformity diagnosed before 7 years of age and in 25% of patients with such a diagnosis after 7 years of age, evidence of modulation was observed. Location, side, and extent of the deformity and patient gender did not influence the propensity of the deformity to modulate. Correlation of modulation with clinical progression of the deformity showed rib penciling to be the only singular factor statistically influencing risk of progression. Of the deformities that acquired three or more penciled ribs, 87% showed significant clinical progression. No other radiographic dystrophic feature individually influenced progression. However, when three or more of the dystrophic skeletal features were acquired, the risk of progression reached statistical significance in 85% of patients. CONCLUSIONS: Spinal deformities in patients with neurofibromatosis 1 should be regarded as deformities in evolution. One should resist assigning these evolving deformities to either the dystrophic or nondystrophic end of the spectrum without considering the possibility of modulation across the spectrum. A spinal deformity that develops before 7 years of age should be followed closely for evolving dystrophic features (i.e., modulation). When a curve acquires either three penciled ribs or a combination of three dystrophic features, clinical progression is almost a certainty.

Adolescent↗
PubMed1992

Aspects in neurofibromatosis from the viewpoint of dermatology.

The neurofibromatoses are a heterogenous set of conditions having clinical manifestations such as skin, nervous system, bone and eye disorders. The clinical pictures of the patients will obviously differ, and there is considerable variation of manifestations even within a family. During the last twenty-five years, one thousand and two hundred patients with neurofibromatosis were personally examined. Almost all our patients had classical von Recklinghausen disease. But in addition to these cases, there are 28 cases of NF-2 and 10 patients which we call multiple neurilemmomatosis. Also, there are related groups of patients with conditions which were not neurofibromatosis, such as 40 cases of localized multiple neurofibromas and 61 cases of localized café-au-lait spots. The features of neurofibromatosis in Japan are not different, compared with foreign countries, except increased pigmentation is more common. In addition to café-au-lait spots, some 20% of Japanese neurofibromatosis patients have pigmentary conditions which I termed hairy fuscoceruleus spots. These spots are blue-brown in colour, and one can see coarse hairs in them. Our recent study indicates that the patients with neurilemmomatosis have loss of heterozygosity of chromosome 22, the same position as the site of patients with NF-2. Neurilemmomatosis may be classified as an NF-2 without acoustic tumors.

Adolescent↗
PubMed1992

Ring chromosome 22 and neurofibromatosis.

Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and the small extra marker chromosome stained positively by in situ hybridization with a chromosome 14/22-specific alphoid repeat probe. DNA dosage analysis showed constitutional loss of one copy of the arylsulfatase A gene (ARSA), consistent with its terminal location on 22q. There was no evidence of constitutional loss of D22S1 or D22S28 which flank the neurofibromatosis type 2 (NF2) locus. Analysis of two DNA samples from a skin neurofibroma indicated retainment of two copies of D22S1, whereas the results were ambiguous with respect to tumor-specific loss of one copy of D22S28. It is suggested that the development of neurofibromatosis of unclear type in two r(22) carriers might be associated with somatic mutation of the NF2 locus due to instability of the ring chromosome(s), and in analogy, that somatic mutation of either NF1 or NF2 may account for some cases of neurofibromatosis which do not meet the criteria of either NF1 or NF2. The occurrence of seminoma in the proband may be fortuitous, but could also be due to the presence of a seminoma-associated locus on chromosome 22.

Adult↗
PubMed1995

Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.

Noonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene.

Cafe-au-Lait Spots↗
PubMedDate not supplied

An unusual presentation of neurofibromatosis of the breast.

Patients with neurofibromatosis type I or von Recklinghausen disease develop neurofibromas in the subcutaneous tissues, including the breast. There are two German reports of massive neurofibromatosis of the breast, but few reports of massive neurofibromatosis of the breast in the English literature. We present an unusual case of neurofibromatosis of the breast with large neurofibromas predominantly noted protruding from both nipple-areolar complexes.

Breast Neoplasms↗
PubMed1988

Familial neurofibromatosis and hypertrophic cardiomyopathy.

Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in neurofibromatosis can cause secondary ventricular hypertrophy with septal involvement.

Adult↗
PubMed1983

The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis.

The association of diaphyseal aclasis and neurofibromatosis with malignant neoplasms has been variously reported as between 5 and 28% of all cases, but malignant disease invariably presents at hospital and the true frequency from an unselected group is unknown. The current survey reviews not only hospital patients but also their affected relatives, with particular reference to malignant disease and the cause of death in all family members. A survey of 36 index patients and 80 known affected relatives with diaphyseal aclasis and 37 index patients and 33 known affected relatives with neurofibromatosis has been carried out. The observed proportions with associated malignant disease were 0.9% of all cases of diaphyseal aclasis and 4.3% of neurofibromatosis. The authors consider this is still too high an estimate in view of the number of persons in the families only mildly affected by the inherited disease who cannot be identified, although their malignant disease will be known. A more likely figure for malignant change in diaphyseal aclasis is calculated at 0.5% (or 1.3% of those over 21 years) and in neurofibromatosis 2.0% (or 4.2% of those over 21 years).

Adolescent↗
PubMed2000

Noninvasive evaluation of arterial abnormalities in young patients with neurofibromatosis type 1.

Neurofibromatosis regroups at least two different autosomal dominant genetic disorders: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Vascular disease is an underestimated complication of NF1. Few studies are available on this, all based on case reports. Neurofibromin, NF1 protein product, has also been detected in aortic smooth muscle. The purpose of this study was to evaluate the physical properties of the vessels, by measuring the carotid-femoral pulse wave velocity (PWV). This parameter was assessed by the Complior, a new noninvasive, validated device, used to screen a large population. The authors studied 64 neurofibromatosis patients (34 boys and 30 girls) with a mean age of 12 years (range 5-25 years). To investigate the presence of vascular lesions, aortic stiffness was evaluated by carotid-femoral PWV by using an automatic processor (Complior). They compared data from the PWV with a control group (30 healthy children, 17 boys and 13 girls, mean age 11 years, range 5-23 years). The calculated mean PWV in the control group was 6.5 +/- 1.15 m/s. The mean PWV of the 64 young patients with NF1 was 6.3 +/- 1.02 m/s. There was no difference between the two groups (p=0.39). Nevertheless, analysis of the linear regression has shown a linear relationship between systolic blood pressure (SBP) and PWV in the control group, while in NF1 patients this relationship is not present. The authors suggest that the coexistence of different factors, such as intimal proliferation, thinning media, fragmentation of the elastic tissue, irregularity, stenosis and tortuosity of the vessels, dysplasia of the small vessels, that counterbalance PWV, normalize the mean value. They emphasize the importance of a careful vascular evaluation, using noninvasive method, such as Complior. This device is well accepted by NF1 patients.

Adolescent↗
PubMed1983

Familial central neurofibromatosis.

The condition of central neurofibromatosis, while well documented in neurology literature, has tended to be amalgamated into acoustic neuromas associated with peripheral neurofibromatosis (or Recklinghausen's disease) in otolaryngology literature. The history of a unique family that has demonstrated four generations of bilateral acoustic neuromas has been outlined to show that central neurofibromatosis is a distinct entity related but not identical in clinical and biochemical aspects to Recklinghausen's disease. This article in intended to acquaint the otolaryngologist with the presentation and management of central neurofibromatosis.

Acoustic Impedance Tests↗
PubMed2002

Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1.

Neurofibromatosis 1 is one of the most common single-gene disorders affecting neurologic function in humans. Mutations in the NF1 gene cause abnormalities in cell growth and differentiation and lead to a variety of learning disabilities. Neurofibromin has several biochemical functions, such as Ras-guanosine triphosphatase activity, adenylate cyclase modulation, and microtubule binding, all of which could be critical for brain function. We review how studies in mouse models are helping to unravel the molecular and cellular mechanisms underlying cognitive deficits in neurofibromatosis 1. These studies suggest that the learning disabilities associated with neurofibromatosis 1 are caused by excessive Ras activity that leads to increased gamma-aminobutyric acid (GABA(A)) inhibition and to decreased long-term potentiation. These findings have brought us closer than ever to the development of possible treatments for the learning disabilities associated with neurofibromatosis 1.

Animals↗
PubMed2003

Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma.

We report an 11-year-old girl who presented with a painless unilateral enlargement of the nasal bridge. Because of multiple café-au-lait spots and a positive family history, neurofibromatosis 1was diagnosed. On a computed tomographic scan, a unilocular radiolucency measuring 1.2 x 2 cm was seen in the anterior wall of the maxillary sinus, which was surgically removed. Histology revealed a central giant cell granuloma. Hyperparathyroidism, which can present with an osseous tumor and similar histology, was excluded. Molecular analysis uncovered a novel splice mutation (A4268G) in this neurofibromatosis 1 family, affecting our patient as well as her mother and brother. This article focuses on the variability of the neurofibromatosis 1 phenotype in this family and the possible relationship between central giant cell granuloma and neurofibromatosis 1.

Child↗