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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Neurocutaneous Syndromes (6):
Recent article
Neurocutaneous Syndromes
Abstract
We tried to investigate if solitary oral fibromas also share morphologic features with fibrous papules of the face. For this purpose, we designed a retrospective study retrieving 31 fibromas of the tongue from 30 different patients and studied a control group of 20 fibrous papules of the face from 2...
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PMID: 20421776
PDF is available here.
PDF is available here.
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Abstract
We report here the first observation of phacomatosis pigmentokeratotica associated with nephroblastoma. In addition to this paediatric renal tumour, the coexistence of juvenile arterial hypertension suggests an associated vascular defect. The link between the extracutaneous manifestations and cutane...
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PMID: 20526546
PDF is available here.
PDF is available here.
Abstract
The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neu...
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PMID: 19808986
PDF is available here.
PDF is available here.
Abstract
We report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the for...
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PMID: 19707786
PDF is available here.
PDF is available here.
Abstract
We present two rare cases of phacomatosis pigmentovascularis type IIb, with one patient demonstrating concurrent Sturge-Weber syndrome and Klippel-Trenaunay syndrome. To the best of our knowledge, this is the second infantile case meeting diagnostic criteria for systemic phacomatosis pigmentovascula...
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PMID: 20609155
PDF is available here.
PDF is available here.
Abstract
Abstract
Veterinary Pathology (46)4 2009
Abstract
We describe the clinical and pathologic features of NCM in a 4.5-year-old female cynomolgus macaque. Histopathologically, skin lesions showed foci of nests and cords of pigmented cells in the dermis similar to blue nevi in humans. In the brain, focal pigmented cell infiltration was observed in the c...
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PMID: 19276048
PDF is available here.
PDF is available here.
Der Ophthalmologe (106)6 2009
Abstract
A combined hamartoma of the retinal pigment epithelium and the retina is a rare alteration of the ocular fundus. Knowledge of this mostly benign clinical picture is important to be able to differentiate it from malignant tumors such as choroidal melanoma. Occurrence in parallel with phacomatoses is...
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PMID: 19018539
PDF is available here.
PDF is available here.
Abstract
Speckled lentiginous naevus (synonym: naevus spilus) no longer represents one clinical entity, but rather, two different disorders can be distinguished. Naevus spilus maculosus is consistently found in phacomatosis spilorosea, whereas naevus spilus papulosus represents a hallmark of phacomatosis pig...
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PMID: 19040513
PDF is available here.
PDF is available here.
Pediatric Annals (38)1 2009
Abstract
Abstract
Abstract
Folia Medica (51)4 2009
Abstract
We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The describ...
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PMID: 20232658
PDF is available here.
PDF is available here.
Abstract
We describe the first mutation in the human AP1S1 gene, encoding the small subunit sigma1A of the AP-1 complex. This founder splice mutation, which leads to a premature stop codon, was found in four families with a unique syndrome characterized by mental retardation, enteropathy, deafness, periphera...
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PMID: 19057675
PDF is available here.
PDF is available here.
Acta Paediatrica (97)12 2008
Abstract
Two children displayed endocrine anomalies, sporadically described among PHACES subjects. One of them developed a transient hyperthyreotropinemia induced by interferon alpha-2alpha treatment for a giant facial haemangioma, while the second presented with congenital hypothyroidism with an in situ thy...
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PMID: 18801022
PDF is available here.
PDF is available here.
Abstract
A 5-year-old girl with a history of hypomelanosis of Ito and intractable epilepsy was evaluated for possible resective surgery. Magnetic resonance imaging showed an enlarged right hemisphere, whereas electrographic seizures were arising from the right hemisphere or had a generalized onset. The patie...
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PMID: 19073327
PDF is available here.
PDF is available here.
Abstract
We encourage a multidisciplinary clinical approach that minimally includes evaluations by dermatology, cardiology, ophthalmology, radiology, and neurology. The diagnosis of PHACES syndrome is confirmed in a child presenting with the characteristic facial hemangioma and at least 1 associated extracut...
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PMID: 19073318
PDF is available here.
PDF is available here.
Neurochirurgie (54)5 2008
Abstract
We discuss the major types of neurocutaneous disorders most frequently encountered by the neurosurgeon and followed beyond childhood. They include neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. In each case, a review of the literature, inclu...
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PMID: 18752812
PDF is available here.
PDF is available here.
Abstract
Histologically, the pigmented tumor represented low grade. The pigmented dura and bone comprised melanin-bearing cells without tumor cells. Meningeal melanocytoma with leptomeningeal melanosis in the absence of cutaneous nevi was diagnosed. Neurologic symptoms recovered immediately after surgery. No...
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PMID: 18827686
PDF is available here.
PDF is available here.
Abstract
There are several rare syndromes combining wrinkled, redundant skin and neurological abnormalities. Although phenotypic overlap between conditions has suggested that some might be allelic to one another, the aetiology for many of them remains unknown. A consanguineous New Zealand Maori family has be...
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PMID: 18478038
PDF is available here.
PDF is available here.
Abstract
Brain and Development (30)7 2008
Abstract
This new devasting, ultrastructural phenotype accompanied by apparently unspecific and mixed neurological symptoms should represent a future challenge to finally discover the pathogenesis of many childhood CNS symptoms, that currently seem to lack any apparent cause....
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PMID: 18226865
PDF is available here.
PDF is available here.
Acta Neurochirurgica (150)7 2008
Abstract
A 30 year old young male was admitted to our department after experiencing clinical symptoms of a subarachnoid haemorrhage. Imaging studies revealed large cerebral AVMs. Fundus examination of the left eye demonstrated a retinal racemose AVM almost completely covering the posterior pole of the eye. W...
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PMID: 18548189
PDF is available here.
PDF is available here.
Abstract
Abstract
We discuss the autopsy findings of three medico-legal cases of sudden death associated with uncommon neuropathologic findings of which the general forensic pathologist may not be familiar. Case 1 was a 43-year-old man who died of a seizure due to malignant melanoma of the temporal lobe associated wi...
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PMID: 18471225
PDF is available here.
PDF is available here.
Abstract
We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system ma...
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PMID: 18234391
PDF is available here.
PDF is available here.
La Revue du praticien (58)7 2008
Abstract
We will more precisely put the stress on neurofibromatosis and tuberous sclerosis complex, which corresponds to autosomal dominant disorders, with well defined clinical presentation and pathophysiology. In the absence of curative treatment, these diseases require life-long multidisciplinary manageme...
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PMID: 18546640
PDF is available here.
PDF is available here.
Abstract
Abstract
A newborn girl with sternal malformation developed large facial hemangiomas consistent with the PHACES association.
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PMID: 18361192
PDF is available here.
PDF is available here.
Abstract
We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly o...
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PMID: 18203153
PDF is available here.
PDF is available here.
Archives of Dermatology (144)2 2008
Abstract
Mayo Clinic Proceedings (83)2 2008
Abstract
Abstract
A 35-year-old woman affected since birth with two café-au-lait macules, one measuring 15 x 20 cm, with an irregular shape, covering almost all of the left buttock, and the other measuring 6 x 13 cm on the front side of the left thigh, is described. For as long as the patient can remember, she has b...
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PMID: 18211491
PDF is available here.
PDF is available here.
Abstract
We describe 2 cases of such occurrence, one of which was associated with a "bulky perineal nevocytoma" with complex cytogenetic rearrangements. This "metastatic" spreading supports an aggressive phenotype, able to seed and establish new colonies, although only after facilitated translocation of the...
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PMID: 18162783
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
We propose the new term "phacomatosis achromico-melano-marmorata". Future clinical research may show whether analogous "simple" twin-spot phenotypes in the form of "phacomatosis melanomarmorata" or "phacomatosis achromicomarmorata" do likewise exist....
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PMID: 18573710
PDF is available here.
PDF is available here.
Pediatric Dermatology (25)2 2008
Abstract
We report a 3-month-old girl with diagnosis of phacomatosis pigmentovascularis type V....
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PMID: 18429779
PDF is available here.
PDF is available here.
Pediatric Dermatology (25)1 2008
Abstract
We conclude that phacomatosis pigmentokeratotica may be associated with other cutaneous abnormalities such as linear connective tissue nevus of the collagen type and multiple pinhead-sized angioma-like lesions superimposed on the speckled lentiginous nevus. The associated defects of the large vessel...
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PMID: 18304160
PDF is available here.
PDF is available here.
Abstract
We report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology.
(c) 2007 Wiley-Liss, Inc....
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PMID: 17963257
PDF is available here.
PDF is available here.
Abstract
We report on three boys with ECCL with typical abnormalities of the eyes, skin and brain and, in addition, coarctation of the aorta. All three children developed multiple cystic bone lesions, which progressively spread throughout the skeleton in Patient 1 and was shown histologically to be non-ossif...
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PMID: 18000896
PDF is available here.
PDF is available here.
Abstract
We report on four new patients with this syndrome. Additionally, we reviewed (i) the brain imaging studies and clinical data of these new cases of ECCL and six other previously published ECCL patients, and (ii) the literature on 42 other patients who had undergone some form of neuroimaging, includin...
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PMID: 18000987
PDF is available here.
PDF is available here.
Journal of Neurosurgery (107)6 Suppl 2007
Abstract
Neurocutaneous melanosis (NM) coexisting with the Dandy-Walker complex (DWC) is a rare condition, with fewer than 15 cases reported in the literature. The authors present a case of an infant with NM and DWC suffering from progressive brainstem compression following ventriculoperitoneal (VP) shunt pl...
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PMID: 18154021
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
We report a 44-year-old man with an extensive epidermal naevus and an ipsilateral speckled lentiginous naevus. He also had ipsilateral right leg hypertrophy and a suprasellar dermoid cyst with associated neurological abnormalities. We propose that this case represents an unusual example of PP....
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PMID: 17868392
PDF is available here.
PDF is available here.
Abstract
We report a case of a newborn presenting at birth with a giant nevus covering about 40% of the total body surface. MRI showed T1 hyperintensities in the right amygdala and predominantly in the cerebellum corresponding to melanocytic cells....
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PMID: 17727949
PDF is available here.
PDF is available here.
European Journal of Pediatrics (166)10 2007
Abstract
Neurologia (22)8 2007
Abstract
Abstract
Phacomatosis pigmentovascularis (PPV) is a group of syndromes comprising coexistent vascular and pigmentary nevi, which is first classified into five subtypes and then further categorized according to the absence or presence of associated systemic findings as type (a) and (b), respectively. This cas...
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PMID: 17822502
PDF is available here.
PDF is available here.
Abstract
The phakomatoses of particular interest to neurologists including Sturge-Weber syndrome, neurofibromatosis type 1, neurofibromatosis type 2, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome are presented. The physical manifestations required for clinical diagnosis, the neurologic features, an...
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PMID: 17980311
PDF is available here.
PDF is available here.
Abstract
Giant congenital melanocytic nevi are a difficult diagnostic and reconstructive challenge, requiring careful preoperative evaluation, staged surgical excision, and lifelong patient monitoring and follow-up. With proper treatment, patients can expect a decreased risk of melanoma, with the possibility...
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PMID: 17632335
PDF is available here.
PDF is available here.
Journal of Neurosurgery (106)6 Suppl 2007
Abstract
The acronym PHACES describes a rare neurocutaneous syndrome that comprises posterior fossa malformations, facial hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. Facial hemangiomas constitute the hallmark of this d...
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PMID: 17566409
PDF is available here.
PDF is available here.
Abstract
We describe a patient with cutaneous melanosis who presented with neurological symptoms due to a large primary meningeal melanoma. The diagnosis of neurocutaneous melanosis was made. This case is an illustration of melanoma development in the central nervous system in a patient with cutaneous melano...
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PMID: 17382464
PDF is available here.
PDF is available here.
Abstract
We present a 14 years old boy with headache and decreased hearing, who turned to be a case of neurofibromatosis type II....
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PMID: 17623595
PDF is available here.
PDF is available here.
Abstract
ATM, the protein mutated in the human genetic disorder ataxia-telangiectasia, functions by responding to radiation damage to DNA, primarily DNA double strand breaks (dsb), to reduce the risk of genome instability, cancer and neurodegeneration. ATM is rapidly activated as an existing protein to phosph...
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PMID: 17512070
PDF is available here.
PDF is available here.
Abstract
Neuroradiology (49)5 2007
Abstract
In this review, we report on a 4(1/2)-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. W...
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PMID: 17235577
PDF is available here.
PDF is available here.
Abstract
Soft tissue expansion is a mechanical process that increases the surface area of local tissue available for reconstructive procedures. In most cases, adjacent tissue that matches the recipient site in color, texture, and hair-bearing quality is preferred for tissue expansion. In this particular case...
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PMID: 17538342
PDF is available here.
PDF is available here.