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ichthyosis/fever
Veza se sprema u međuspremnik
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[Exercise-induced malignant hyperthermia in a patient with familial ichthyosis vulgaris. Muscular carnitine deficiency as contributing factor (author's transl)].
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A young soldier with familial ichthyosis vulgaris developed malignant hyperthermia after an intensive exercise. Ichythyosis was considered as a predisposing factor, but the finding of a low muscular carnitine level raises the problem of a relationship between exercised-induced malignant hyperthermia
Sensitivity of hyperthermia-treated human cells to killing by ultraviolet or gamma radiation.
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Human xeroderma pigmentosum (XP) or Fanconi anemia (FA) fibroblasts displayed shouldered 45 degrees C heat survival curves not significantly different from normal fibroblasts, a result similar to that previously found for ataxia telangiectasia (AT) cells, indicating heat resistance is not linked to
Oral acitretin treatment in severe congenital ichthyosis of the neonate.
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Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day). Clinical improvement was achieved shortly after treatment. The second case
Hyperthermia and host-cell reactivation of adenovirus 12.
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Exposure of cultured human fibroblasts to hyperthermia delayed the host-cell reactivation of UV-irradiated human adenovirus type 12 (AD12). The experimental design consisted of irradiating human AD12 with UV doses ranging from 180 to 1800 ergs/mm2, infecting human cell populations at 37 degrees C,
Ichthyosis fetalis in a cross-bred lamb.
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BACKGROUND
Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals: fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not
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
Acquired ichthyosis as a paraneoplastic syndrome in Hodgkin's disease.
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An 80-year-old man was admitted to hospital with low-grade fever, weight loss, asthenia and anorexia. Physical examination revealed generalised ichthyosis with palmoplantar hyperkeratosis. CT scan showed retroperitoneal and inguinal lymph node enlargement. An inguinal lymph node biopsy revealed
Selective inhibition of repair of active genes by hyperthermia is due to inhibition of global and transcription coupled repair pathways.
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Hyperthermia specifically inhibits the repair of UV-induced DNA photolesions in transcriptionally active genes. To define more precisely which mechanisms underlie the heat-induced inhibition of repair of active genes, removal of cyclobutane pyrimidine dimers (CPDs) was studied in human fibroblasts
Ichthyosis and marrow involvement in malignant histiocytosis of the intestine.
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It has recently been suggested that a number of small bowel lymphomas arise from histiocytic cells in the intestine. This has been referred to as malignant histiocytosis of the intestine (MHI) (Isaacson et al, 1979). Three such patients with small bowel malabsorption had the following features:
Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series.
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BACKGROUND Xeroderma pigmentosum (XP) is an autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations include extreme sensitivity to ultraviolet (UV) rays, freckle-like pigmentation, ocular abnormalities, and an increased risk of developing neoplasms in sun-exposed
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
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TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a
Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis.
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Emir S, Hacısalihoğlu Ş, Özyörük D, Kaçar D, Erdem A, Karakuş E. Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis. Turk J Pediatr 2017; 59: 711-714. Xeroderma
Granulomatous mycosis fungoides presenting as an acquired ichthyosis.
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We report a case of a 69-year-old gentleman who presented with a 3-month history of unexplained fevers and malaise who developed generalized pruritus, alopecia and an ichthyosiform erythematous eruption on his forearms, legs, chest and back. Skin histology, immunophenotyping and molecular features
Filaggrin mutations, atopic eczema, hay fever, and asthma in children.
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BACKGROUND
Mutations in the filaggrin gene (FLG) have been shown to play a significant role in ichthyosis vulgaris and eczema, 2 common chronic skin diseases. However, their role in the development of other atopic diseases such as asthma and rhinitis has not yet been clarified in large
Salicylate intoxication using a skin ointment.
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Acute percutaneous salicylate intoxication is a rare event in children but can happen with a skin disease where salicylic acid, used as a keratolytic ointment, can be absorbed transcutaneously. Until now, few cases of transcutaneous salicylate intoxication have been reported in the literature. Our
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