neurocutaneous syndromes/asthenia

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Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy.

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Phacomatosis pigmentokeratotica (PP) is a mosaic disorder that represents a distinct epidermal naevus syndrome. Its defining features are an epidermal naevus that is usually of the sebaceous type and a speckled lentiginous naevus arranged in a chequerboard pattern. In addition, there are

Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man.

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Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male

Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report.

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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

Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

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Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors with a birth incidence rate of 1 in 2500-3000. 50% of cases are sporadic. The diagnosis is exclusively based on clinical assessment with

Zoster vaccine live.

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Herpes zoster is a neurocutaneous disease caused by the varicella-zoster virus and is associated with significant morbidity and long-term sequelae in older adults. Until recently, treatment options for these complications have been primarily targeted at disease state management and symptom relief.

Presenting symptoms and time to diagnosis for Pediatric Central Nervous System Tumors in Qatar: a report from Pediatric Neuro-Oncology Service in Qatar

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Introduction: There are no previous published reports on primary pediatric tumors of the central nervous system (CNS) in Qatar. We undertook this retrospective cohort study to review the diagnosis of CNS tumors in children in Qatar to

[Deafness at Wiskott-Aldrich-syndrome].

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BACKGROUND The Wiskott-Aldrich-syndrome belongs to the phakomatoses. The hereditary transmission happens x-chromosomal recessive in the domain of Xp 11.3-Xp 11.22. Clinical evidence for that is given by thrombocytopenia, an eczema and a weakness of the immune system with a subsequent increased risk

Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report.

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Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other

Assessment of sacrum scalloping in neurofibromatosis type 1 caused by a giant cell lesion of the sacrum.

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BACKGROUND Neurofibromatosis type 1 (NF-1) is the most common of the neurocutaneous disorders. It leads to significant orthopedic complications and spinal deformities. Scalloping in NF-1 may be caused by weakness of the mesodermal dysplasia, which develops through the inherited mutation of

Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype.

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Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed

Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities.

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Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on

[A case of giant pigmented nevus with multiple meningiomas].

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A 36-year-old female had a giant congenital pigmented nevus on her anterior trunk. She complained of muscle weakness of the right arm and leg in August 1988, and she was admitted to our hospital to take medical examinations in September 1988. Neurological examination revealed right hemiparesis and

A rare case of massive NF1 with invasion of entire spinal axis by neurofibromas: case report.

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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

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.

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BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central

Skeletal muscle and motor deficits in Neurofibromatosis Type 1.

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Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as poor coordination,

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