نتایج جستجو برای: phakomatosis pigmentovascularis
تعداد نتایج: 132 فیلتر نتایج به سال:
638 Ann Dermatol Received April 5, 2016, Revised September 7, 2016, Accepted for publication September 9, 2016 Corresponding author: Sang Seok Kim, Department of Dermatology, Kangdong Sacred Heart Hospital, Hallym University College of Medicine, 150 Seongan-ro, Gangdong-gu, Seoul 05355, Korea. Tel: 82-2-2224-2285, Fax: 82-2-474-7918, E-mail: [email protected] This is an Open Access article dist...
Epidermal nevus syndrome is a kind of neurocutaneous syndrome that is associated with epidermal nevus and a variety of congenital CNS disorders. Clinical presentations include seizures, paresis, mental retardation, and developmental delay. We report three cases with MR imaging and magnetoencephalography findings; one patient underwent ictal and interictal single photon emission CT. Both structu...
A 15-month-old girl presented with developmental delay, intractable right focal motor seizures, hyperpigmented patch on the left side of the face, facial asymmetry, and right hemiparesis (figure 1). A diagnosis of linear nevus sebaceous syndrome (LNSS) was considered. Brain MRI revealed hemimegalencephaly (figure 2). EEG showed spike/wave discharges in left occipital leads. Ophthalmologic and s...
Lhermitte-Duclos disease is a rare entity, and its pathological features are unique. Pathological findings are characteristic of the disease, with global hypertrophy of the cerebellum, coarse gyri, and the typical "inverted cortex" pattern. Several associated lesions were noted in many patients with Lhermitte-Duclos disease. It is only recently that an association between Lhermitte-Duclos disea...
Neurofibromatosis type-1 (NF1) is a type of phakomatosis inherited in an autosomal dominant fashion. Also called 'von Recklinghausen disease' or 'peripheral neurofibromatosis', it comprises 90% of all neurofibromatosis (NF) cases. It is characterized by multiple peripheral nerve sheath tumors of benign character called neurofibromas. Surgical intervention is indicated when myelopathy and motor ...
Astrocytomas are rarely found in the eye. In the literature which we have reviewed, we have found only five well-documented cases (McLean, 1937; Marks, Willis, and Anderson, I939; Boles, Naugle, and Samson, 1958; Foos, Straatsma, and Allen, I965; Cleasby, Fung, and Shekter, I967) which were not associated with tuberous sclerosis or with neurofibromatosis, and were not formed by an intraocular e...
PURPOSE Neurofibromatosis type 1 (NF-1) is an autosomal dominant phakomatosis with a prevalence of 1 in 2000 to 1 in 5000. Up to 24% of these patients have optic pathway gliomas (OPGs). In the present study, the use of sweep visual evoked potentials (SVEPs) was investigated as a screening tool for identifying patients with NF-1 who had OPGs by comparing them to those patients with no OPGs and t...
AIM To report rare findings of oral and periodontal manifestations in a patient with Epidermal nevus syndrome (ENS). BACKGROUND The ENS describes the rare association of an epidermal nevus with abnormalities of central nervous system,ocular and skeletal abnormalities. Reports of oral involvement have been few. Also, most of the intraoral lesions have been reported in patients with nevi that d...
BACKGROUND Epidermal naevi are benign hamartomatous growths of the skin which are generally asymptomatic with a benign course but are cosmetically disagreeable. Topical treatments such as steroids, calcipotriol, 5 fluorouracil, podophyllin, retinoids and cryotherapy are ineffective and surgical excision results in scar formation. Therapy is often challenging. AIM OF THE STUDY To study the res...
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