keyword
MENU ▼
Read by QxMD icon Read
search

neurocutaneous disorders

keyword
https://www.readbyqxmd.com/read/28087349/combination-of-multiple-ligation-dependent-probe-amplification-and-illumina-miseq-amplicon-sequencing-for-tsc1-tsc2-gene-analyses-in-patients-with-tuberous-sclerosis-complex
#1
Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor AzniYahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Zabidi Azhar Mohd Hussin
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate...
January 10, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28025990/focal-cortical-dysplasia-molecular-disturbances-and-clinicopathological-classification-review
#2
Monika Siedlecka, Wiesława Grajkowska, Ryszard Galus, Bożenna Dembowska-Bagińska, Jarosław Jóźwiak
Focal cortical dysplasia (FCD) is one of the most important causes of drug-resistant epilepsy in paediatric patients, particularly in those below the age of 3. Even though over 40 years have passed since the first description of the entity by Taylor, the exact mechanisms causing these cortical abnormalities remain unelucidated. In this review, we summarise the current knowledge on clinical and histopathological aspects, taking into account the new classification system proposed by the International League Against Epilepsy...
November 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#3
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28003905/coexistence-of-autism-spectrum-disorders-among-three-children-with-tuberous-sclerosis-complex-case-reports-and-review-of-literature
#4
Amna Al-Futaisi, Ahmed Idris, Abeer Al-Sayegh, Watfa S Al-Mamari
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27990391/encephalocraniocutaneous-lipomatosis-haberland-syndrome-a-rare-case-report
#5
Ashish Jagati, Bela J Shah, Rima Joshi, Trusha Gajjar
Haberland syndrome or Fishman syndrome also known as encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital neurocutaneous disorder. It is characterized by unilateral involvement of skin, eyes and central nervous system. We report the case of a 28-year-old woman who presented with soft lipomatous swelling over right temporal area with nonscarring alopecia of part of frontal and parietal region. The patient had a history of seizures and ipsilateral scleral dermoid. Computed tomography scan findings were suggestive of lipomas and calcification of falx...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27980226/novel-phenotypes-of-nf1-patients-from-unrelated-chinese-families-with-tibial-pseudarthrosis-and-anemia
#6
Santasree Banerjee, Dongzhu Lei, Shengran Liang, Li Yang, Saijun Liu, Zhu Wei, Jian Ping Tang
Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body...
December 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27942471/mixed-vascular-nevus-syndrome-a-report-of-four-new-cases-and-a-literature-review
#7
Martino Ruggieri, Agata Polizzi, Serena Strano, Carmelo Schepis, Massimiliano Morano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Vito Sofia, Emanuele David, Vincenzo Salpietro, Kshitij Mankad, Pietro Milone
BACKGROUND: Mixed vascular nevus (or nevus vascularis mixtus) represents an admixture of cutaneous vascular malformations of the telangiectatic type and angiospastic spots of nevus anemicus. It can occur as an purely cutaneous trait or as a hallmark of a neurocutaneous phenotype (mixed vascular nevus syndrome) characterised by the combination of: (I) paired vascular (telangiectatic and anemic) twin nevi and brain abnormalities of the Dyke-Davidoff-Masson type (i.e., crossed cerebral/cerebellar hemiatrophy with hypoplasia of the ipsilateral cerebral vessels and homolateral hypertrophy of the skull and sinuses (hyperpneumatisation) with contralateral hemispheric hypertrophy); or (II) paired vascular twin nevi and brain malformations of the Dyke-Davidoff-Masson type in association with systemic abnormalities consisting in facial asymmetry, skeletal anomalies (i...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#8
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27735809/celiac-disease-phylloid-hypomelanosis-and-autoimmune-thyroiditis-a-case-report
#9
Mahya Sultan Tosun, Vildan Ertekin
Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her physical examination had determined multiple hypopigmented patches. Finally, she was diagnosed phylloid hypomelanosis together with partial trisomy 13 accompanying celiac disease and autoimmune thyroiditis...
November 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27539768/hemiplegia-following-mild-head-injury-in-a-child-with-sturge-weber-syndrome-a-diagnostic-dilemma
#10
Shameem Ahmed, Siba Prosad Paul
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder with skin, eye, and brain involvement. Hemiplegia in children with SWS after a mild head injury is known to occur in up to one-fifth of cases. A3-year male child presented with a sudden onset hemiplegia following a mild head injury. He was known to have seizure disorder and was being treated with sodium valproate. CTscan of the brain showed contusion. He was admitted for neurological observations and the patient made complete recovery with conservative treatment...
August 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27465244/brief-report-the-prevalence-of-neurofibromatosis-type-1-among-children-with-autism-spectrum-disorder-identified-by-the-autism-and-developmental-disabilities-monitoring-network
#11
Deborah A Bilder, Amanda V Bakian, David A Stevenson, Paul S Carbone, Christopher Cunniff, Alyson B Goodman, William M McMahon, Nicole P Fisher, David Viskochil
Neurofibromatosis type 1 (NF1) is an inherited neurocutaneous disorder associated with neurodevelopmental disorders including autism spectrum disorder (ASD). The frequency of ASD/NF1 co-occurrence has been subject to debate since the 1980s. This relationship was investigated in a large population-based sample of 8-year-old children identified with ASD (N = 12,271) by the Centers for Disease Control and Prevention's Autism and Developmental Disabilities Monitoring (ADDM) Network. Twenty-two (1-in-558) children with ASD had diagnosed NF1, exceeding NF1 general population estimates by four to five fold...
October 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27462357/a-rare-case-of-sjogren-larsson-syndrome-with-recurrent-pneumonia-and-asthma
#12
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation in the ALDH3A2 gene. An ALDH3A2 gene mutation results in dysfunction of the microsomal enzyme fatty aldehyde dehydrogenase and impaired metabolism and accumulation of leukotriene B4, which is a key molecule and a pro-inflammatory mediator in developing allergic diseases, especially asthma...
June 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27432683/neurocutaneous-syndromes
#13
Nitasha Klar, Bernard Cohen, Doris D M Lin
Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases...
2016: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27423801/pediatric-neurocutaneous-syndromes-with-cerebellar-involvement
#14
REVIEW
Thangamadhan Bosemani, Thierry A G M Huisman, Andrea Poretti
Neurocutaneous syndromes encompasses a broad group of genetic disorders with different clinical, genetic, and pathologic features that share developmental lesions of the skin as well as central and peripheral nervous system. Cerebellar involvement has been shown in numerous types of neurocutaneous syndrome. It may help or be needed for the diagnosis and to explain the cognitive and behavioral phenotype of affected children. This article describes various types of neurocutaneous syndrome with cerebellar involvement...
August 2016: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/27423683/age-related-changes-in-brain-mr-appearance-in-the-course-of-neurocutaneous-melanosis
#15
Monika Bekiesińska-Figatowska, Ewa Sawicka, Klaudia Żak, Orest Szczygielski
BACKGROUND: Patients with giant congenital melanocytic nevi (GCMN) have increased risk of neurocutaneous melanosis (NCM). Brain MRI is mandatory in GCMN. OBJECTIVES: To present the age related changes in brain MRI in children with NCM during several-year follow-up. METHODS: In 7 NCM children following data were analyzed: main nevus localization, surgical treatment phase, histology of excised nevi, time of NCM diagnosis, number of MRI studies, neurological symptoms, changes of melanin deposits in brain during follow-up...
August 2016: European Journal of Radiology
https://www.readbyqxmd.com/read/27373137/giant-congenital-melanocytic-nevus-in-a-bulgarian-newborn
#16
A A Chokoeva, M Fioranelli, M G Roccia, T Lotti, U Wollina, G Tchernev
Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant congenital melanocytic nevus on his back, as we discuss the diagnostic and treatment approach...
April 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/27319310/primary-amelanotic-leptomeningeal-melanomatosis-in-a-child-a-rare-but-severe-disease
#17
Alexandru Szathmari, Romain Perbet, Marc Hermier, Federico Di Rocco, Didier Frappaz, Carmine Mottolese
BACKGROUND: Primary leptomeningeal melanomatosis (PLM) is a rare and aggressive form of nonmetastatic invasion of leptomeninges by malignant melanocytic cells. Clinical presentation includes nonspecific meningism with various forms of cerebrospinal fluid circulation or absorption disorders leading to hydrocephalus. CASE DESCRIPTION: A 5-year-old child with PLM without neurocutaneous melanosis presented with cystic enlargement of the brainstem surrounding cisterns and hydrocephalus requiring occipitoaxial decompression and endoscopic cystostomy...
August 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27268758/leveraging-a-sturge-weber-gene-discovery-an-agenda-for-future%C3%A2-research
#18
Anne M Comi, Mustafa Sahin, Adrienne Hammill, Emma H Kaplan, Csaba Juhász, Paula North, Karen L Ball, Alex V Levin, Bernard Cohen, Jill Morris, Warren Lo, E Steve Roach
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder...
May 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27234610/a-novel-mutation-in-nf1-is-associated-with-diverse-intra-familial-phenotypic-variation-and-astrocytoma-in-a-chinese-family
#19
Santasree Banerjee, Yi Dai, Shengran Liang, Huishuang Chen, Yanyan Wang, Lihui Tang, Jing Wu, Hui Huang
Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but his siblings only had regional lesions. The man's daughter presented with severe headache and vomiting...
September 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27222632/sturge-weber-syndrome-an-unusual-case-with-multisystem-manifestations
#20
C Nidhi, C Anuj
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder. It is characterized by the presence of facial port wine stains, neurological abnormalities like seizures and mental retardation, ocular disorders, oral involvement and leptomeningeal angiomas. CASE REPORT: A 13-year-old boy presented with the chief complaint of swollen, bleeding gums and deposits on the teeth. Detailed medical and dental history, clinical examination and investigations confirmed the diagnosis of Sturge-Weber syndrome...
March 2016: Ethiopian Journal of Health Sciences
keyword
keyword
65963
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"