نتایج جستجو برای: phakomatosis pigmentovascularis
تعداد نتایج: 132 فیلتر نتایج به سال:
The sebaceous nevus, a congenital sk in disease, was first described in 1895 by Jadassohn [1] and later became known as the organoid nevus syndrome within the grouping of the phacomatoses [2]. In 1957 , Schimmelpenning [3] described its assoc iation with central nervous system, skeletal, and eye lesions. In 1962, Feuerstein and Mims [4] reported a case with epi lepsy and mental retardation . In...
of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference Lisa M. Guay-Woodford, MD, John J. Bissler, MD, Michael C. Braun, MD, Detlef Bockenhauer, MD, Melissa A. Cadnapaphornchai, MD, Katherine M. Dell, MD, Larissa Kerecuk, MD, Max C. Liebau, MD, Maria H. Alonso-Peclet, MD, Benjamin Shneider, MD, Sukru Emre, MD, Theo Heller, MD, Binita M. Kamath, MD, Karen F. Murr...
Focal cortical dysplasia type IIb is characterized by epilepsy-associated malformations that are often composed of balloon cells and dysplastic neurons. There are many histopathologic similarities between focal cortical dysplasia type IIb and cortical tubers in tuberous sclerosis complex (TSC), an autosomal-dominant phakomatosis caused by mutations in the TSC1 or TSC2 genes that encode hamartin...
OBJECTIVE Tuberous sclerosis complex (TSC) is the second most common phakomatosis and is characterized by the formation of benign hamartomas and low-grade neoplasms in multiple organ systems. In this study, our objective here was to explore the interaction and crosstalk between pathways in response to tuberous sclerosis complex. MATERIALS AND METHODS We enriched the significant pathways and m...
We report two cases of epidermal nevus syndrome (ENS) involving the spine. MR imaging of the spine demonstrated intraspinal lipomas in both cases. Abnormal, enhancing, enlarged cervical and lumbosacral nerve roots were present in one patient. Spinal imaging for patients with ENS may help in the diagnosis of subtle intracranial manifestations, as it did in both of our cases. ENS has features sim...
Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and...
BACKGROUND The epidermal nevus syndromes include different diseases that have the common feature of mosaicism. One of these has been recently identified and named phacomatosis pigmentokeratotica, in analogy to phacomatosis pigmentovascularis. It is characterized by an organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies. It has been hypothe...
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