1/42. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 1keywords = nervous system (Clic here for more details about this article) |
2/42. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?We report a 22 year old female presenting with slowly progressive paraparesis, who appeared to have many (mainly subcutaneous) hamartomas. The neurological symptoms were caused by intraspinal masses and arteriovenous malformations. In addition, she had mild overgrowth of one leg and lymph vessel malformations. This combination of symptoms resembles proteus syndrome, but is different in symptomatology and progression and may be yet another hamartoneoplastic syndrome.- - - - - - - - - - ranking = 1.7703367907091keywords = malformation (Clic here for more details about this article) |
3/42. Linear epidermal nevus and nevus sebaceus syndromes: a clinicopathologic study of 3 patients.BACKGROUND: Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare. DESIGN: We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery. RESULTS: patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients. CONCLUSION: The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.- - - - - - - - - - ranking = 0.16666666666667keywords = nervous system (Clic here for more details about this article) |
4/42. Nevoid bag-like soft fibromas.True nevi and nevoid disorders are defined as visible, circumscribed and long-lasting lesions of the skin, reflecting genetic mosaicism. We report on a 17-year-old young man presenting with large pedunculated soft fibromas restricted to a circumscribed area of the right abdomen. We suggest that these nevoid bag-like soft fibromas represent a new malformation in the heterogenous group of nevoid tumors.- - - - - - - - - - ranking = 0.29505613178485keywords = malformation (Clic here for more details about this article) |
5/42. renal artery stenosis associated with epidermal nevus syndrome.Epidermal nevus syndrome is an unusual neurocutaneous disorder in which epidermal nevi are associated with abnormalities of the skeleton and central nervous system, including the eyes and somtimes the cardiovascular system. We treated a patient in whom the latter included renal artery stenosis. An 18-year-old man with epidermal nevi was diagnosed as having the syndrome based on the additional presence of scoliosis, an arachnoid cyst in the middle cranial fossa, and microphthalmos. hypertension was diagnosed when the patient was 15 years old. The plasma renin activity (9.7 ng/ml/h) was elevated. Right renal artery stenosis was demonstrated by angiography, and the abdominal aorta was narrowed distal to the ostium of the superior mesenteric artery. The plasma renin activity in the right renal vein (16 ng/ml/h) was higher than contralaterally (10 ng/ml/h). Several cardiovascular manifestations have been reported as a complication of epidermal nevus syndrome. hypertension in an individual with epidermal nevi and congenital anomalies should prompt a search for a vascular anomaly.- - - - - - - - - - ranking = 0.16666666666667keywords = nervous system (Clic here for more details about this article) |
6/42. sturge-weber syndrome without facial nevus.An 11-month-old patient with sturge-weber syndrome with the absence of facial angioma and normal mental development is presented. Noncontrast computed tomography revealed left parieto-occipital atrophy with heavy gyriform calcifications. Axial T(2)-weighed magnetic resonance imaging confirmed the presence of low-signal areas corresponding to the gyral calcifications evident on computed tomography. Contrast-enhanced T(1)-weighted axial and coronal images exhibited high signals in the left parieto-occipital cortical and subcortical areas, representing angiomatous malformations. The clinical appearance and pathologic features of the reported patient were compared with those of similar patients described in published reports.- - - - - - - - - - ranking = 0.29505613178485keywords = malformation (Clic here for more details about this article) |
7/42. Spinal AVM, epidermal nevus, and rhabdomyosarcoma: A rare neurocutaneous syndrome?A 26-year-old man with a history of an embryonal rhabdomyosarcoma arising from the urachus and a large, right-sided, epidermal nevus presented with a rapidly evolving tetraparesis. Investigations confirmed an intramedullary hemorrhage of the cervical spinal cord and an extensive arteriovenous malformation (AVM). An association between his nevus, rhabdomyosarcoma, and spinal AVM is hypothesized.- - - - - - - - - - ranking = 0.29505613178485keywords = malformation (Clic here for more details about this article) |
8/42. Linear nevus sebaceous syndrome associated with porencephaly and nonfunctioning major cerebral venous sinuses.An infant with the linear nevus sebaceous syndrome also had new findings of porencephaly and nonfunctioning major cerebral venous sinuses. This infant is the first described with the syndrome to undergo angiographic study. Similar nonfunctioning major cerebral venous sinuses are seen in the sturge-weber syndrome. A leptomeningeal angioma recently was reported in a newborn with the linear nevus sebaceous syndrome. The central nervous system disturbances in this syndrome might be secondary to developmental vascular anomalies. Therefore, the linear nevus sebaceous syndrome exhibits important similarities to the Sturge-Weber variety of neurocutaneous syndrome.- - - - - - - - - - ranking = 0.16666666666667keywords = nervous system (Clic here for more details about this article) |
9/42. Acantholytic dyskeratotic epidermal nevus: a rare histopathologic feature.BACKGROUND: Epidermal nevus is a congenital malformation of the epidermis consisting of verrucoid scaly plaques on the skin, often in a linear fashion. Different histologic features have been seen and, at times, acantholytic dyskeratosis has been observed. We report a new case of acantholytic dyskeratotic epidermal nevus. CASE REPORT: A 3-year-old girl presented, since birth, asymptomatic keratotic scaly lesions on the left hemithorax and left arm that followed Blaschko's lines. histology: Biopsies revealed acanthosis, papillomatosis, hyperkeratosis and focal areas of suprabasal clefting with acantholysis, as well as individual dyskeratotic cells (corps ronds et grains) in the upper layers of the epidermis. In the literature, this histologic feature has been reported twice. Generalized or localized Darier's disease are well-established clinical entities with characteristic histologic features of acantholytic dyskeratosis. Because of the linear clinical appearance and the onset at birth or early childhood, the lesions should be regarded as epidermal nevi and not linear Darier's disease. CONCLUSION: We report here an additional case of dyskeratotic epidermal nevus, which is a rare histopathologic feature.- - - - - - - - - - ranking = 0.29505613178485keywords = malformation (Clic here for more details about this article) |
10/42. Epileptic disorder as the first neurologic manifestation of blue rubber bleb nevus syndrome.Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous manifestations characteristic of this process present from birth and multiple cerebral angiomas detected by magnetic resonance imaging. At age 1(1/2) months, the patient showed myoclonic seizures and complex partial seizures that were refractory to various antiepileptic regimens. At age 5 months, electroencephalograms (EEGs) showed continuous generalized slow spike-waves, predominantly in the right temporal region; however, EEGs normalized after induction of coma with intravenous midazolam. At age 13 months, the patient suffered from occasional seizures and slightly retarded psychomotor development. epilepsy is rare in this syndrome but as in other neurocutaneous syndromes (e.g., sturge-weber syndrome) can compromise psychomotor development; thus, every effort should be made to control seizures.- - - - - - - - - - ranking = 1.0518350620212keywords = malformation, nervous system (Clic here for more details about this article) |
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