Cases reported "Cafe-au-Lait Spots"

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1/29. Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: a case report.

    BACKGROUND: An 8-year old girl was referred for diagnosis and treatment to the Department of Periodontology Oral Surgery of the University Hospital of Liege with an unusual clinical situation: a major, non-inflammatory, diffuse but unilateral enlargement of the interproximal, marginal and attached gingiva around all teeth of the right side of both the upper maxilla and mandible, whereas the alveolar process of the left side of upper and lower arches appeared strictly normal. METHOD: The clinical examination showed delayed eruption of some permanent teeth in the 1st and 4th quadrants. Except for its asymmetric occurrence, this gingival enlargement strongly resembled phenytoin-induced enlargement or gingival fibromatosis. This unilateral expression was evocative of a vascular or neurologic pathology. Several large "cafe-au-lait" spots were found disseminated on the body. Several selective surgical removals of thick gingival caps impairing the eruption of some permanent teeth were performed, and the removed tissues were histologically analyzed. RESULTS: Because of the presence of the large "cafe-au-lait" spots, a clinical diagnosis of Von Recklinghausen's disease was given and later confirmed several times by the histological analysis of the gingival biopsies. Now, 6 years later, this gingival enlargement due to the development of intra-gingival neurofibromas is stable and all permanent teeth have had a normal eruption, but alveolar bone growth has been partly impaired by the presence of the tumor. CONCLUSIONS: The present case of unilateral diffuse hyperplasia is a unique clinical expression of neurofibromatosis type I, a slowly evolving neurodermic dysplasia.
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2/29. Deep-seated segmental neurofibromatosis without cafe au lait spots.

    Segmental neurofibromatosis is a rare disease characterized by neurofibromas with or without cafe au lait spots localized to one segment of the body. The majority of reported cases have had cutaneous neurofibromas, and patients with deep involvement have rarely been described. We report on two patients with deep-seated segmental plexiform neurofibromatosis and review the literature. All reviewed cases including the present two had no cafe au lait spots, axillary freckling, Lisch nodules, family history or malignant progression of disease. Differential diagnoses from neuro-fibromatosis 1 (von Recklinghausen disease) and malignant peripheral nerve sheath tumor are important for genetic counseling and avoiding overtreatment.
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keywords = neurofibroma
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3/29. Plexiform neurofibroma of the penis in a child.

    We report a case of a child with the stigmata of von Recklinghausen's disease and a plexiform neurofibroma arising from the penile shaft.
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4/29. association of juvenile xanthogranuloma with cafe-au-lait macules.

    A 2-year-old boy was referred to the dermatology services for the evaluation of yellowish-brown raised lesions over the face of 3 months' duration. In addition, he had multiple asymptomatic hyperpigmented spots over the trunk, which his parents had noticed at the time of birth. His physical and mental milestones of development were normal. Apart from the cutaneous lesions, the child was otherwise well and there was no history of seizures. He was the only child born to nonconsanguineous parents. No family history of similar lesions was available. The boy weighed 14 kg, had a height of 88 cm, and a head circumference of 48 cm. General physical and systemic examination was normal. Cutaneous examination revealed multiple, yellowish-brown papules over the forehead, sides of the face, and shoulders. The papules measured 0.5-0.8 cm in diameter, were discrete, well defined, oval and flat topped without any surface changes (Fig. 1). Multiple cafe-au-lait macules varying from 0.5 to 3.0 cm in diameter were present over the trunk (Fig. 2). There was no freckling in the axillary or the inguinal regions and no neurofibromas were present. A diagnosis of juvenile xanthogranuloma was considered. Complete blood counts, urine analysis, hepatic and renal function tests, and serum lipid levels were normal. A skin biopsy from a papule over the shoulder revealed a dense infiltrate in the dermis underlying a normal epidermis. The infiltrate was well demarcated and comprised lymphocytes, eosinophils, and foamy histiocytes along with Touton giant cells and proliferating fibroblasts. This confirmed the diagnosis of juvenile xanthogranuloma. The parents were informed about the benign and self-limiting nature of the disorder and were advised to bring the child for regular follow-up.
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keywords = neurofibroma
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5/29. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene.

    Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and cafe-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no cafe-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency.
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keywords = neurofibroma
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6/29. Segmentally distributed neurofibromatosis associated with adenocarcinoma of the colon.

    Neurofibromatosis can be associated with various malignancies, but an association with adenocarcinoma is extremely rare. A 61-year-old man who had been diagnosed with adenocarcinoma of the hepatic flexure of the colon was referred for segmentally located, multiple cafe-au-lait spots and tumors on his back and axillary freckles for 40 years. Histopathologic examination of the tumor was consistent with the neurofibromatosis. We report an unusual case of type I neurofibromatosis associated with adenocarcinoma of the colon that was clinically similar to segmental neurofibromatosis.
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keywords = neurofibroma
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7/29. Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family.

    Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis are both autosomal dominant heredofamilial disorders. Concurrence of these two diseases is very rare. Herein, we report the coexistence of neurofibromatosis in 3 members, a mother and her 2 sons, of a family with preexisting ADPKD. The chromosomal studies of these patients show no translocation, deletion, or other gross abnormality. It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons.
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keywords = neurofibroma
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8/29. Widespread central nervous system cavernous malformations associated with cafe-au-lait skin lesions. Case report.

    The simultaneous presence of cavernous malformations in the brain and spinal cord is a very rare finding and is typically associated with familial cavernous malformations. Although they are uncommon, various skin lesions can manifest in patients with familial cavernous malformations. The authors report on a 60-year-old man in whom more than 100 lesions consistent in appearance with cavernous malformations, including several intramedullary spinal cord lesions, were found throughout the neuraxis. This patient also displayed prominent cafe-au-lait skin lesions, but had no additional signs of neurofibromatosis or other neurocutaneous disorders. Analysis of his dna revealed a novel mutation in the KRIT1/CCM1 gene, thereby confirming the diagnosis of familial cavernous malformation. The presence of these lesions in every major compartment of this patient's central nervous system underscores their indiscriminate nature and the need to screen throughout the neuraxis in patients in whom familial cavernous malformations are suspected. The findings in this case add to the growing list of skin lesions associated with genetically confirmed familial cavernous malformations. In patients presenting with seizures, focal neurological deficits, or hemorrhagic stroke, the presence of unusual skin lesions should prompt consideration of familial cavernous malformations, and appropriate screening should be performed.
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keywords = neurofibroma
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9/29. Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature.

    We describe a dramatic case of an identical twin presenting at birth with unilateral congenital glaucoma. Because of the suspicion of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement. diagnosis of neurofibromatosis 1 was confirmed by 3 months of age with the emergence of cafe-au-lait spots. This case was compared with all 19 reports published in the English literature of neurofibromatosis 1 associated with congenital glaucoma. Initial presentation, family history, characteristics ofthe clinical syndrome, and outcome of glaucoma in infants with neurofibromatosis 1 and congenital glaucoma were reviewed. A plexiform neurofibroma of the ipsilateral eyelid was present in eight patients and ipsilateral facial hypertrophy occurred in three patients. cafe-au-lait spots appeared between the ages of 5 weeks and 8 years; none of the patients were reported to have cafe-au-lait spots at birth. Newborns with unilateral congenital glaucoma should raise high suspicion for neurofibromatosis 1 and its associated findings, which might need immediate intervention.
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keywords = neurofibroma
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10/29. Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?

    This article describes four patients with non-ossifying fibromas (NOFs) and multiple cafe-au-lait spots. Two of the patients were diagnosed with NOFs when they presented with a femur fracture. The other two patients were diagnosed with NOFs because of complaints of leg problems. In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients. These four patients fulfilled the diagnostic criteria for neurofibromatosis type 1 (NF1) and also have been diagnosed with Jaffe-Campanacci syndrome. We propose that Jaffe-Campanacci syndrome is a manifestation of NF1 and suggest that patients with NF1 should have more rigorous radiographic screening of the long bones during early adolescence or adulthood to determine the presence or absence of NOFs. Appropriate intervention (exercise restriction, bracing, and/or surgery) might decrease the long-term disability associated with Jaffe-Campanacci syndrome.
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