Neurocutaneous, Phakomatoses, and hamartoneoplastic syndromes: Mnemonic
نویسندگان
چکیده
منابع مشابه
Common Neurocutaneous Syndromes.
Neurocutaneous syndromes are a diverse group of neurologic disorders with concurrent skin manifestations. Most neurocutaneous syndromes have a genetic basis and are believed to arise from a defect in the differentiation of the primitive ectoderm. In this regard, the skin can be a window into the central nervous system and can aid in the diagnosis of neurologic disease in children. The cutaneous...
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A patient with multiple basal cell carcinoma syndrome, a symptom complex characteristized by nevoid basal cell carcinomas of the skin, jaw cysts, skeletal abnormalities, and hyporesponsiveness to parathormone is presented. In addition, the patient had a retroperitoneal lymphagiomyoma, a hamartomatous lesion, causing ureteral obstruction. The association of neuroectodermic syndromes and retroper...
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This review highlights the diagnostic criteria and neuro-ophthalmic symptoms and signs of the more commonly seen neurocutaneous disorders, including NF1 and NF2, tuberous sclerosis, VHL disease, Sturge-Weber disease, and AT. The distinct neuro-ophthalmic features in each of these hereditary and congenital disorders play an important role in clinical diagnosis.
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Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence...
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On 9 November 2004 the Round Table Conference on Medical Care Management of Patients with Neurocutaneous Syndromes was held in Warsaw. The Conference was organised by the Polish Neurocutaneous Syndromes Clinics Initiating Group and the Children’s Memorial Health Institute in Warsaw. The heads of the departments involved in the treatment of patients with phakomatoses and delegates of the Polish ...
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ژورنال
عنوان ژورنال: Medical Journal of Dr. D.Y. Patil Vidyapeeth
سال: 2020
ISSN: 2589-8302
DOI: 10.4103/mjdrdypu.mjdrdypu_286_19