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https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#1
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28621617/intrathoracic-meningocele-associated-with-neurofibromatosis-type-1-and-a-novel-technique-for-surgical-repair-case-report
#2
Paramita Das, Tarini Goyal, Matthew A Hunt
Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Surgical interventions discussed in the literature include shunting the pseudomeningocele, primary repair with laminectomy, thoracoscopic plication, and reinforcement of the closure with cement, muscle, or fascia...
June 16, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28558025/doxycycline-potentiates-antitumor-effect-of-5-aminolevulinic-acid-mediated-photodynamic-therapy-in-malignant-peripheral-nerve-sheath-tumor-cells
#3
Ming-Jen Lee, Shih-Hsuan Hung, Mu-Ching Huang, Tsuimin Tsai, Chin-Tin Chen
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. Some NF1 patients develop benign large plexiform neurofibroma(s) at birth, which can then transform into a malignant peripheral nerve sheath tumor (MPNST). There is no curative treatment for this rapidly progressive and easily metastatic neurofibrosarcoma. Photodynamic therapy (PDT) has been developed as an anti-cancer treatment, and 5-aminolevulinic (ALA) mediated PDT (ALA-PDT) has been used to treat cutaneous skin and oral neoplasms...
2017: PloS One
https://www.readbyqxmd.com/read/28552839/endocrinological-evaluations-of-a-neurofibromatosis-type-1-cohort-is-it-necessary-to-evaluate-autoimmune-thyroiditis-in-neurofibromatosis-type-1
#4
Serhat Güler, Gözde Yeşil, Hasan Önal
BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which coexistence with autoimmune thyroiditis and thyroid gland tumours has been reported previously. AIMS: We aimed to determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases. STUDY DESIGN: Case-control study...
May 29, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28540905/tuberous-sclerosis-complex-bourneville-pringle-disease-in-a-25-year-old-female-with-bilateral-renal-angiomyolipoma-and-secondary-hypertension
#5
Sahar El Aoud, Faten Frikha, Mouna Snoussi, Raida Ben Salah, Zouhir Bahloul
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#6
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#7
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28431841/cognitive-profile-and-disorders-affecting-higher-brain-functions-in-paediatric-patients-with-neurofibromatosis-type-1
#8
E Vaucheret Paz, A López Ballent, C Puga, M J García Basalo, F Baliarda, C Ekonen, R Ilari, G Agosta
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. OBJECTIVE: The purpose of our study is two-fold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients...
April 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#9
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#10
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#11
E B F Terpstra-Prinsen, K Kamphuis-Van Ulzen, K D Liem
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Mostly TSC is diagnosed on MRI and not by cerebral ultrasound. Subependymal nodules are the usual presenting sign of TSC on cerebral ultrasound in neonates, which are often misdiagnosed as subependymal hemorrhage, calcifications or ischemic lesions after intrauterine germinal matrix hemorrhage...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28367137/epilepsy-mechanisms-in-neurocutaneous-disorders-tuberous-sclerosis-complex-neurofibromatosis-type-1-and-sturge-weber-syndrome
#12
REVIEW
Carl E Stafstrom, Verena Staedtke, Anne M Comi
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28346953/lennox-gastaut-syndrome-a-state-of-the-art-review
#13
Mario Mastrangelo
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting from dysfunctions of a complex system involving both cortical and subcortical structures (default-mode network, corticoreticular connections, and thalamus). These dysfunctions are produced by different disorders including hypoxic-ischemic encephalopathies, meningoencephalitis, cortical malformations, neurocutaneous disorders, or tumors...
June 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28297145/5q14-3-microdeletions-a-contiguous-gene-syndrome-with-capillary-malformation-arteriovenous-malformation-syndrome-and-neurologic-findings
#14
Sung-Min Park, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28250072/neurocutaneous-disorders-in-children
#15
Bruce R Korf, E Martina Bebin
Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come...
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28248915/-phacing-a-new-cause-of-carotid-artery-dissection
#16
Caterina Kulyk, Filippo Farina, Anna Palmieri, Federica Viaro, Francesco Causin, Anna M Laverda, Claudio Baracchini
INTRODUCTION: Cervical arterial dissection (CAD) is a frequent and preventable cause of ischemic stroke in young patients. Several arguments suggest that genetic and developmental disorders could play an important role as part of a multifactorial predisposition of sporadic CAD.We present 2 cases of young patients with CAD in association with cutaneous lesions and nonatherosclerotic multivessel arteriopathy. CASE REPORTS: Our first patient was a 17-year-old white girl with sudden onset of weakness in her right upper limb...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28215521/orbital-imaging-manifestations-of-neurocutaneous-syndromes-revisited
#17
REVIEW
Abanti Das, Sanjay Sharma
Neurocutaneous syndromes or phakomatoses represent a heterogeneous group of multisystemic disorders involving structures of ectodermal origin. Characteristic ocular manifestations are described for individual entities that are often the first clues to the underlying diagnosis. However, opaque ocular media or involvement of retrobulbar orbit limits adequate clinical evaluation. This underlines the role of imaging, especially cross-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, which offer a comprehensive evaluation of orbit and its contents...
December 30, 2016: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28207006/papillary-transitional-cell-bladder-carcinoma-and-systematized-epidermal-nevus-syndrome
#18
Adekemi Akingboye, Heather Schultz, Gina A Taylor
Epidermal nevus syndrome (ENS), also known as Solomon syndrome, is a rare neurocutaneous disorder defined by mosaicism. Epidermal nevus syndrome may be associated with a variety of systemic findings, several of which have been described in the literature, including but not limited to central nervous system abnormalities and internal malignancies. There is a paucity of reports of patients with both epidermal nevi and papillary transitional cell bladder carcinoma in the literature. We present a rare case of systematized epidermal nevi associated with development of papillary transitional cell bladder carcinoma in a young woman...
January 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28127866/rare-familial-tsc2-gene-mutation-associated-with-atypical-phenotype-presentation-of-tuberous-sclerosis-complex
#19
Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevski
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a heterozygous TSC2 mutation (c.5138G>A (p.Arg1713His)) in the patient. This heterozygous alteration was detected in his mother as well as several other maternal family members...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28126187/sturge-weber-syndrome-a-review
#20
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
June 2017: Actas Dermo-sifiliográficas
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