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ichthyosis/diarree
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6 resultaten
[Scurvy and acquired ichthyosis associated to Whipple's disease].
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The skin manifestations, except for hyperpigmentation, are uncommon in Whipple's disease (WD). We present the case of a 48-year-old male with chronic diarrhea and long course general syndrome associated to neurological manifestations. Skin examination revealed lesions in the lower limbs and gums
Acquired ichthyosis disclosing non-Hodgkin's malignant lymphoma.
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When ichthyosis occurs in adulthood, it may signify internal disease, especially malignant hemopathy. A 49-year-old man was admitted to hospital with diarrhea, fever, weight loss and abdominal pain. Physical examination showed generalized ichthyosis with palmoplantar hyperkeratosis and multiple
[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature].
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The ARC-syndrome is a rare disease with the obligatory symptoms arthrogryposis, renal tubular dysfunction and cholestasis. Optional further symptoms like ichthyosis, diarrhea, central nervous system defects and recurrent infections have been reported. The ARC-syndrome was first reported by
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome.
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Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
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OBJECTIVE
ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome is a rare, fatal cause of neonatal intrahepatic cholestasis without known treatment modalities and has recently been ascribed to a mutation in the VPS33B gene. We assessed the clinical characteristics and investigated the
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.
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Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed in patients from the Bas St-Laurent region of Quebec. It has similar skin lesions as observed for EKV, including congenital hyperkeratosis and red patches of variable sizes, shapes,
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