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nevus/phosphatase

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11 tulemused

Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets.

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The association of connate, left-sided, extensive epidermal verrucous nevus, multiple isolated bone tumors and vitamin-D-resistant rickets since childhood seen in a 20-year-old male patient corresponded to an epidermal nevus syndrome (ENS). However, other organ involvement occasionally associated

Skeletal anomalies and keratocysts in the basal cell nevus syndrome.

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Five cases with multiple jaw cysts from two families, and two other unrelated patients are presented. Multiple keratocysts of the jaws were found in all patinets whose cysts had been examined histologically. There were also several follicular cysts without keratinization. In some cysts there was
BACKGROUND Epidermal nevus syndrome is very variable in symptoms and associated abnormalities. Synonyms of this syndrome are linear nevus sebaceus syndrome or Schimmelpenning-Feuerstein-Mims syndrome or Solomon syndrome. The combination with vitamin D-resistant rickets is rare and only sporadically
A severe form of vitamin D-resistant rickets is associated with the linear sebaceous nevus syndrome. We investigated the pathophysiology underlying defective bone mineralization in two individuals and examined the effects of 1,25-dihydroxyvitamin D (1,25(OH)2D, calcitriol) therapy on the clinical
A 5-year-old boy was found to have severe rickets in association with hyperpigmented, linear, verrucous, epidermal tumors, typical of the epidermal nevus syndrome. Normocalcemia (9.6 mg/dl), hypophosphatemia (2.0 mg/dl), elevated serum alkaline phosphatase concentration (313 IU), decreased renal
We examined the influence of different staining techniques [(three-step immunoperoxidase technique (IP); alkaline phosphatase-anti-alkaline phosphatase technique (APAAP)] on the quantitative evaluation of Ki-67-labeled nuclei. We studied five melanocytic skin tumors. From each case, five parallel

Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.

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BACKGROUND Hypertrophy of the calvarium has different aetiologies, among them the rare Proteus syndrome. METHODS We report here the case of a young girl initially treated for relapsing right then left large chronic subdural haematoma, who progressively developed craniofacial hypertrophy consistent

Cutis marmorata telangiectatica congenita: report of nine cases and review of the literature.

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The major clinical features of nine patients (seven women and two men) with cutis marmorata telangiectatica congenita (CMTC) were persistent cutis marmorata, spider nevus-like telangiectasia, and phlebectasia. Three of the patients had persistent ulcers and atrophy. In two patients, atrophie

Biopsy in indeterminate intraocular tumors.

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OBJECTIVE To describe an intraocular biopsy technique that allows accurate histopathologic diagnosis in cases of clinically unclassifiable uveal tumors. METHODS Retrospective noncomparative consecutive interventional case series. METHODS Intraocular biopsies were performed by a vitreous cutter

Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome.

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Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurologic (seizures), and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no
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