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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a rare intracranial meningeal melanocytoma associated with the nevus of Ota. The patient was 36-year-old man with a 2-week history of headache and difficulty in opening his right eye. Physical examination showed a black nevus scattered on the right-hand side of the face, right eyelid ptosis and papilledema. CT scans and MRI showed a tumor in the region of the right cavernous sinus. The tumor was subtotally resected. Histological examination confirmed the diagnosis of melanocytoma.
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PMID:Intracranial meningeal melanocytoma associated with nevus of Ota. 2192 17

Neurocutaneous melanosis is characterized by an increased number of melanocytes and melanin deposit in central nervous system associated with giant melanocytic congenital nevi. Patients with multiple satellite nevi or giant cutaneous melanocytic nevus in a midline location (overlying the back, neck or head) have more likelihood of having neurocutaneous melanosis. In most patients, the neurocutaneous melanosis is asymptomatic, only detectable by MRI; nevertheless, those patients with clinical manifestations have a poor prognosis, dying within 3 years of initial neurological manifestations. We present a patient with giant melanocytic congenital nevi and multiple satellite nevi associated with asymptomatic neurocutaneous melanosis. We emphazise the importance of multidisciplinary evaluation in order to detect early neurological symptoms and/or melanoma.
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PMID:[Neurocutaneous melanosis. Case report and literature review]. 2223 76

Cobb syndrome (cutaneomeningospinal angiomatosis) is a rare phacomatosis characterized by vascular abnormality of the spinal cord associated with a vascular naevus at the same metamere. We report the case of a newborn with Cobb syndrome, diagnosed by sonography of the spine and later confirmed by MRI. In neonates and young infants with dermatomal cutaneous vascular abnormalities, sonography of the spine should be used as the first imaging modality.
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PMID:Sonographic findings in a neonate with Cobb syndrome. 2233 59

Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome.
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PMID:A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. 2248 29

Epidermal nevus syndrome (ENS) is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko's lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.
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PMID:Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features. 2277 20

Classic Sturge-Weber syndrome (SWS) is characterized by presence of flammeus nevus involving the first sensory branch of trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and choroidal angioma. Sporadic cases of SWS without facial nevus (SWS type III) have been rarely reported. Here we report the clinical and neuroradiological findings of five patients with SWS type III and compare their findings with those described in the literature. This study confirmed that SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Surgical therapy should be considered in patients with drug-resistant and persistent epileptic seizures.
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PMID:Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. 2335 90

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple recurrent vascular malformations. Herein we report the case of a patient with BRBNS and placenta previa. Sonography and MRI clearly identified several hemangiomas located adjacent to the uterus with none adjacent to the anterior lower uterine segment. This preoperative information helped us perform the uterine wall incision safely during the cesarean delivery. The presence and location of hemangiomas adjacent to the uterus should be carefully examined in a pregnant woman with BRBNS prior to elective or emergency cesarean delivery.
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PMID:Association of blue rubber bleb nevus syndrome and placenta previa: report of a case. 2305 93

Twenty-four children with giant congenital melanocytic nevi underwent brain MRI at 1.5 T scanner. Melanin deposits in the brain were found in seven children (29.2%) located in temporal lobes, thalamus, cerebellum, and pons. One patient showed leptomeningeal involvement. Six patients were asymptomatic, and one had epilepsy. As opposed to previous reports, localization of skin nevi on anterior part of trunk was correlated to central nervous system involvement. In all patients with brain involvement skin nevi showed picture of compound nevus with neurofibromatic component.
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PMID:Neurocutaneous melanosis in children with giant congenital melanocytic nevi. 2423 41

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder comprised typically of a facial nevus, leptomeningeal angioma with calcifications, and seizures. SWS without a port-wine stain is a rare variant with only 30 cases reported in the literature. Here, a case of an 8-year-old girl with no cutaneous abnormalities presenting with medically intractable epilepsy and MRI and CT findings consistent with SWS is described. The patient underwent multistage surgery with subdural electrode monitoring before and after resection of the epileptogenic focus, with complete excision of the lesion and postoperative resolution of her seizures. This is the first reported case of three-stage surgery for localized resection of the seizure focus for SWS.
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PMID:Focal resection of leptomeningeal angioma in a rare case of Sturge-Weber syndrome without facial nevus. 2443 61

We report a case in an adolescent male patient with a history of chronic fatigue, headache and unexplained iron deficiency anaemia since 2007. Numerous bluish-black lesions were found over his body surface. A surgical scar from a previous lumpectomy with a small lump were noted at the left submandibular region and another smaller lesion on the left lobe of the thyroid was also palpated. His most recent blood indices displayed the presence of moderately severe iron deficiency anaemia. Endoscopic evaluation exhibited multiple vascular lesions throughout the gastrointestinal tract. MRI of the brain revealed an irregular intracranial vascular lesion at the cerebellopontine angle. Further work-up with abdominal CT demonstrated the absence of similar lesions in the extraintestinal abdominal organs. Putting these together with histological findings, the diagnosis of blue rubber bleb naevus syndrome was confirmed. The patient was treated conservatively at this point and future management planning was discussed with him.
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PMID:Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia. 2538 91


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