hyperpigmentation/phosphatase

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Isolated deficiency of glucocorticoids presenting with cholestasis.

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Prijava / prijava

BACKGROUND Isolated deficiency of glucocorticoids is characterized by elevated levels of adrenocorticotropin (ACTH) and normal aldosterone production. It is rare for isolated deficiency of glucocorticoids to be associated with liver involvement. A case of an infant with isolated deficiency of

Porphyria cutanea tarda and sarcoidosis.

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Prijava / prijava

A 38-year-old black woman presented with a multisystem disease characterized by malaise, fever, sweats, and diffuse hyperpigmentation. Laboratory examinations showed anemia, elevated alkaline phosphatase, granulomas in the liver and bone marrow, and elevated porphyrins in the urine and feces,

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

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Prijava / prijava

Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac abnormalities, and developmental delay. Genes

[The impairement of bone formation and resorption in 25-year-old man with neglected celiac disease].

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Prijava / prijava

Bone turnover impairement and low bone density in 25-year-old man with active celiac disease was presented. The patient refused gluten-free diet compliance and clinically showed doughy abdomen, hyperpigmentation, finger clubbing and koilonychia. In serum, we obtained about 2-fold of formation

Familial benign chronic intrahepatic cholestasis.

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Prijava / prijava

Three of four adult siblings in a family which was studied for three generations had clinical and/or laboratory signs of slowly progressive intrahepatic cholestasis. Slight hyperpigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase

Prospective study on prevalence of dermatological changes in patients under hemodialysis in hemodialysis units in Tanta University hospitals, Egypt.

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Prijava / prijava

BACKGROUND Chronic hemodialysis patients experience frequent and varied mucocutaneous manifestations in addition to hair and nail disorders. The aim of this study was to evaluate the prevalence of dermatological changes among patients with end-stage renal disease under hemodialysis in a hemodialysis

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