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neurocutaneous disorders

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https://www.readbyqxmd.com/read/29274929/intrapericardial-neurofibromatosis-with-coronary-involvement-a-case-report
#1
E A Moghadam, M A Navabi Shirazi, M R Mirzaaghayan, M Nikoufar, A Ghamari
Neurocutaneous syndromes are heterogenous diseases that are diagnosed in the presence of skin and central nervous system disorders. Neurofibromatosis (NF) is one of these disorders, with autosomal dominant inheritance, that causes tumors that grow on nerves as well as other abnormalities such as skin changes and bone deformities. The most common form of NF is type I. A 6-year-old Iranian boy with neurofibromatosis was referred to the pediatric cardiology clinic due to a soft holosystolic murmur discovered on routine examination...
December 20, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29204211/unusual-cause-of-west-syndrome
#2
Ananthanarayanan Kasinathan, Hansashree Padmanabh, Kirti Gupta, Naveen Sankhyan, Paramjeet Singh, Pratibha Singhi
Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29181214/atypical-presentation-of-sj%C3%A3-gren-larsson-syndrome
#3
D Papathemeli, A Mataftsi, A Patsatsi, D Sotiriadis, M Samouilidou, S Chondromatidou, A Evangeliou
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#4
MULTICENTER STUDY
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/28981355/abdominal-imaging-findings-in-neurocutaneous-syndromes-looking-below-the-diaphragm
#5
Maria Gosein, Alison Harris, Emily Pang, Paramanand Maharaj, Silvia Chang
OBJECTIVE: Neurocutaneous syndromes are a heterogeneous group of multisystemic disorders. We review the multimodality imaging findings in the disorders with a propensity for intraabdominal disease. We highlight more recently recognized disease patterns and discuss imaging surveillance optimization. CONCLUSION: Knowledge of varied intraabdominal phenotypic expressions can increase diagnostic rates. Limitation of radiation dose must be considered in screening this tumor-prone population...
December 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28978576/bilateral-intracranial-calcifications-with-bilateral-facial-cutaneous-naevus-sturge-weber-syndrome
#6
Muhammad Arif Saeed, Kiran Hilal, Prem Chand
Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#7
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28895704/-novel-mutation-in-tsc2-gene-in-pediatric-patient-with-clinical-diagnosis-of-tuberous-sclerosis
#8
Gabriela Caicedo-Herrera, Estephania Candelo, Harry Pachajoa
Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant 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. Clinical features are highly variable and could be developing over the life. We present a case of TSC with a molecular test that identified a novel variant in TSC2 gene. It is a sporadic missense mutation which has not been previously reported in the literature. It is caused by premature termination of protein translation and results in the production of truncated and non-functional proteins...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28887276/moyamoya-vasculopathy-in-phace-syndrome-six-new-cases-and-review-of-the-literature
#9
REVIEW
Domenico Tortora, Mariasavina Severino, Andrea Accogli, Carola Martinetti, Nadia Vercellino, Valeria Capra, Andrea Rossi, Marco Pavanello
PHACE syndrome is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and have been recently categorized based on the risk of acute ischemic stroke, raising attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. On the other hand, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high risk vasculopathies, including quasi-moyamoya, in this syndrome...
September 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28803159/telangiectasias-small-lesions-referring-to-serious-disorders
#10
REVIEW
J H Schieving, M H D Schoenaker, C M Weemaes, M van Deuren, M van der Flier, M M Seyger, M A A P Willemsen
Telangiectasias are prominent small vessels (venules, capillaries or arterioles) that are visible as small red-purple focal lesions in the skin and mucous membranes. They can serve as a cutaneous marker for a number of primary (mostly hereditary) disorders and they can be secondary to other (systemic) diseases. Patients with telangiectasias are seen by general health practitioners, pediatricians, (pediatric) neurologists, dermatologists, and ophthalmologists. In this article we give an overview of the different disorders in which telangiectasias are a prominent feature, focusing on neurocutaneous disorders in which they serve as a marker for establishing the right diagnosis...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28771907/xeroderma-pigmentosum-clinical-practice-guidelines
#11
Shinichi Moriwaki, Fumio Kanda, Masaharu Hayashi, Daisuke Yamashita, Yoshitada Sakai, Chikako Nishigori
Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease"...
October 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28749391/variations-in-herpes-zoster-manifestation
#12
REVIEW
Uwe Wollina
Herpes zoster (HZ) is a neurocutaneous disorder due to endogenous reactivation of the varicella-zoster virus (VZV). The typical clinical manifestation is an acute segmental eruption of herpetiform umbilicated vesicles associated with malaise, pain, dysaesthesia, allodynia and probably fever. This review focuses on other possible clinical manifestations of the disease to sensitize physicians not to overlook HZ since only an early antiviral treatment can reduce the risk of post-zosteric neuralgia.
March 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#13
David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Mete
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition that predisposes to numerous proliferative lesions, including perivascular epithelioid cell tumors (PEComas), such as lymphangioleiomyomatosis (LAM) and angiomyolipomas, and rare neuroendocrine neoplasms. We describe herein a TSC2-harboring tuberous sclerosis patient manifesting with a synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like LAM of the rectum. The background large bowel wall was thickened by confluent nodular areas comprising vessels and spindle-to-epithelioid cells, which are immunoreactive for myoid (smooth muscle actin, muscle specific actin, and desmin) and melanocytic markers (HMB45, Melan-A, microphthalmia transcription factor, and CD117)...
July 21, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28671794/-pulmonary-lymphangioleimyomatosis-review-and-case-report
#14
Sophie Excoffier, Olivier Guinand, Thierry Rochat
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease, occurring in women of childbearing age, that can occur sporadically (S-LAM) or can be associated with tuberous sclerosis complex (TSC-LAM), an inherited neurocutaneous disorder. This article is illustrated by a case report. We then review clinical manifestations, diagnostic tools, and treatment of this disease. LAM should be considered in young women who present with dyspnea on exertion and/or spontaneous pneumothorax, with typical cystic lesions on high-resolution chest CT...
August 24, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#15
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
#16
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...
September 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
#17
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
#18
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
#19
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
#20
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
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