Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 28-year-old female with Klippel-Trenaunay-Weber syndrome associated with an arteriovenous malformation (AVM) of the spinal cord is reported. She was admitted to our hospital with a 4-month history of steadily progressive weakness and dysesthesia of the legs. A nevus flammeus, varices, hypertrophy and elongation of the left leg had been present since her infancy. These symptoms progressed and she became unable to walk and pass water by herself. Myelography disclosed a spinal AVM extending from Th11 to L2. Angiography confirmed the presence of stretched and tortuous vessels as well as an arteriovenous shunt in the left leg. Magnetic resonance imaging showed a high-intensity area extending from Th10 to L2. Following laminectomy from Th10 to L2 and resection of the AVM, her motor and bladder functions worsened. However, 6 months later, her motor function improved to the preoperative state and the bladder dysfunction disappeared. The coexistence of Klippel-Trenaunay-Weber syndrome with spinal AVM, considered to be rare, is discussed, and the pertinent literature is reviewed. The case presented here is the first to have been surgically treated in Japan.
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PMID:Klippel-Trenaunay-Weber syndrome with spinal arteriovenous malformation--case report. 247 29

A case of meningioma that developed 37 years after irradiation therapy for vascular nevus of the scalp over the right frontoparietal region was reported. A 49-year-old male was admitted to the hospital of Gifu University on October 26, 1979, because of a generalized seizure. He had been born with a vascular nevus affecting the right frontoparietal scalp, for which he began receiving local irradiation at the age of 12. The total dose was not known because the only source of information regarding this treatment was the patient's memory. From the age of 17, the suffered from occasional attacks of dysesthesia in the left side of his body without consciousness disorder. He otherwise remained well for the intervening 37 years. Upon admission, he had a vascular nevus remaining with post irradiation skin changes over the right frontoparietal region. General and neurological examination were not remarkable. Right carotid angiogram and CT scan disclosed the presence of a right frontal tumor. A right frontotemporal craniotomy was performed on December 4, 1979 and a hard tumor was found firmly attached to the dura and bone at the right site. All visible tumor and involved bone were completely removed without difficulty. Histological examination of the surgical specimen showed the characteristic features of a transitional meningioma. There was no evidence of malignancy in the sections examined. Since Mann et al reported a malignant meningioma following irradiation therapy for optic nerve glioma, there have been many reports, over seventy cases of so-called radiation-induced meningioma. However, a meningioma following irradiation therapy for vascular nevus of scalp or face is exceedingly rare.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Meningioma following irradiation for vascular nevus. A case report]. 673 96

Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with Schimmelpenning syndrome, such as hyperhidrosis, muscular weakness and dysesthesia. This second component of phacomatosis pigmentokeratotica may likewise occur separately. For the association of speckled lentiginous nevus with hyperhidrosis, muscular weakness, dysesthesia or other neurological abnormalities, the term "speckled lentiginous nevus syndrome" is proposed. Some case reports that may be categorized as examples of this new syndrome are reviewed. The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype.
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PMID:Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. 1187 7

A 42-year-old man had a large speckled lentiginous nevus on the left side of his trunk. The involved area was painful when touched and paresthetic. Moreover, the ipsilateral half of his body showed a pronounced hyperhidrosis. This case can be categorized as a typical example of speckled lentiginous nevus syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral neurological abnormalities in the form of dysesthesia, muscular weakness or hyperhidrosis. Speckled lentiginous nevus syndrome represents a mosaic phenotype. Most likely it originates from loss of heterozygosity occurring in a heterozygous embryo at an early developmental stage.
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PMID:Speckled lentiginous nevus syndrome: report of a further case. 1545 38

Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on his trunk, bilateral upper extremities, and neck associated with hyperhidrosis and nonspecific pain in the distribution of the nevus in addition to prominent upper extremity asymmetry and scoliosis. Similar musculoskeletal abnormalities have been reported in patients with phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica which feature speckled lentiginous nevus; however, this patient demonstrates striking musculoskeletal abnormalities in the absence of coexisting vascular lesions or nevus sebaceous.
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PMID:Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. 1970 91

Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and PPV has not been reported to the best of our knowledge. Melanocytoma, which usually involves the leptomeninges or spinal cord, is extremely rare in the retroperitoneum. We present here a case of a patient with NCM, PPV, and melanocytic tumors in the spinal cord and retroperitoneum, which were treated surgically. A 40-year-old woman had a 2-year history of dysesthesia and weakness in the left leg. History included congenital giant blue nevus-like lesion in the trunk, a port-wine stain in the sacral area, and Caesarean section performed 8 years before, when diffuse pigmentation in the peritoneum was noted. Magnetic resonance (MR) imaging of the spine revealed an intramedullary tumor at T10 level with paramagnetic signal characteristics. The spinal cord tumor was totally removed, and the histological diagnosis was melanocytoma. Three months later, a left retroperitoneal mass with histological features of melanocytic tumor was removed. Neither tumors recurred and the patient stays ambulatory 4 years after the surgery. Multiple subtypes of melanocytic tumors with distinctive features of NCM and PPV can develop simultaneously, mimicking malignant melanoma. Gross total resection of each tumor, when indicated, is beneficial.
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PMID:Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report. 2407 74

Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of the disorder, we found multiple hypointense lesions involving the ipsilateral hemisphere.
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PMID:Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. 2502 80