Read by QxMD icon Read

neurocutaneous disorders

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
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
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
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
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
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
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
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
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
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
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
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
Su-Kyeong Hwang, Jae-Hyung Lee, Jung-Eun Yang, Chae-Seok Lim, Jin-A Lee, Yong-Seok Lee, Kyungmin Lee, Bong-Kiun Kaang
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and autism. TSC is inherited in an autosomal dominant pattern and is caused by mutations in either the TSC1 or TSC2 genes, which enhance activation of the mammalian target of rapamycin (mTOR) signaling pathway. Recent studies have suggested that mTOR inhibitors such as rapamycin can reverse TSC-associated deficits in rodent models of TSC...
2016: Molecular Brain
Velusamy Subramanian, Praveen Hariharan, J Balaji
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
January 2016: Journal of Pediatric Neurosciences
Kimberly A Foster, William J Ares, Zachary J Tempel, Andrew A McCormick, Ashok Panigrahy, Lorelei J Grunwaldt, Stephanie Greene
INTRODUCTION: PHACE syndrome is a neurocutaneous disorder involving large facial hemangiomas in association with posterior fossa abnormalities, cerebral arterial anomalies, cardiac defects, and eye abnormalities. A recent consensus statement has delineated criteria necessary for the diagnosis of PHACE syndrome. Extracutaneous manifestations of PHACE syndrome predominately affect the cerebrovascular system. To date, there are no reports of cerebral cavernous malformations (CCMs) in children with PHACE syndrome...
August 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Anna Pinto, Mustafa Sahin, Phillip L Pearl
Epilepsy is a major morbidity in Sturge Weber syndrome, a segmental vascular neurocutaneous disorder classically associated with facial angiomas, glaucoma, and leptomeningeal capillary-venous type vascular malformations. The extent of the latter correlates with neurological outcome. Post-zygotic mosaicism for the activating mutation p.R183Q of the GNAQ gene has been identified as the major cause.  GNAQ encodes for an alpha subunit of a heterotrimeric G protein critical to blood vessel development. The earlier the timing of the mutation in development, the more severe the involvement, e...
2016: F1000Research
Stefano Caccavale, Domenico Bove, Rocco M Bove, Maddalena LA Montagna
This article examines three neurocutaneous syndromes (NCSs), genetic disorders that produce developmental abnormalities of the skin and an increased risk of neurological complications. In this review we examine different aspects of these diseases (Ataxia telangiectasia, Menkes kinky hair disease, Neurocutaneous melanosis): the clinical features, the genetic defect, the mutation spectrum, the pathogenesis, and the neurobiological basis; indications for clinical practice are provided to the reader. The goal of this review is to suggest the importance of cooperation among dermatologist, neurologist and psychiatrist, in order to provide patients suffering from these diseases with timely diagnosis and targeted treatments...
March 22, 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Mark D Mamlouk, John-Paul J Yu, Sarah Asch, Erin F Mathes
PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging.
March 2016: Clinical Imaging
Piero Pavone, Andrea Domenico Praticò, Giulia Gentile, Raffaele Falsaperla, Rosario Iemmolo, Maria Guarnaccia, Sebastiano Cavallaro, Martino Ruggieri
Neurocutaneous disorders represent a heterogeneous group of conditions affecting the skin (with pigmentary/vascular abnormalities, hamartomas or tumors) and the central and peripheral nervous systems. In recent years, besides the well-known neurocutaneous diseases (e.g., the different forms of neurofibromatosis, tuberous sclerosis complex, Sturge-Weber syndrome and mosaic pigmentary/hamartomatous disorders), new distinctive syndromes have been characterized, extending our knowledge on the spectrum of these conditions...
May 2016: European Journal of Medical Genetics
Natália Parenti Bicudo, Balduíno Ferreira de Menezes Neto, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano, Débora Gusmão Melo
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder that can be associated with severe complications, and it may shorten patients' lifespan and affect their quality of life negatively. This study aimed to examine quality of life constructs among adults with NF1 in Brazil. It is an exploratory, descriptive and cross-sectional study consisting of two stages, involving thirteen adult patients with NF1. The first stage was developed using a quantitative methodology, namely the WHOQOL-100 questionnaire; responses for the 13 patients were compared to a matched control group...
October 2016: Journal of Genetic Counseling
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"