ichthyosis/uppköst

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Case of Congenital Ichthyosis and Cyclical Vomiting.

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Holocarboxylase synthetase deficiency presenting as ichthyosis.

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Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of

[Life threatening salicylate poisoning caused by percutaneous absorption in severe ichthyosis vulgaris].

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In a 7-year-old boy, ichthyosis vulgaris was treated with a 10% ointment for application over a large area of the body surface. In this way, the child received 400 g salicylic acid (0.6 g/kg body weight per day) percutaneously over a period of 4 weeks. The patient was referred to hospital by the

[Nephroblastoma and xeroderma pigmentosum: A rare association].

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BACKGROUND Xeroderma pigmentosum (XP) is a rare, genetically heterogeneous, autosomal recessive disorder, more common in cases of consanguinity. The basic defect underlying the clinical manifestations is a nucleotide excision repair defect leading to the defective repair of DNA damaged by

Dorfman-Chanarin syndrome.

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A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly,

Amifostine administration during radiotherapy for cancer patients with genetic, autoimmune, metabolic and other diseases.

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Amifostine is a broad-spectrum cytoprotective agent approved for protection against cisplatin toxicities and radiation-induced xerostomia; strong clinical evidence exists that amifostine protects normal mucosa and lung from radiation damage. Hypotension, nausea/vomiting, fatigue and fever/rash are

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.

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Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by excessive accumulation of cystine within the lysosome. Cystinosis is caused by mutations in the lysosomal cystine transporter, cystinosin (CTNS). The CTNS gene consists of 12 exons and encodes for an integral

Preoperative treatment of advanced skin carcinoma with cisplatin and bleomycin.

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In advanced skin carcinomas of the head and neck region, the tumor may be unresectable or curative resection or radiation may either fail or produce poor functional and cosmetic results. The goal of this study was to test the ability of preoperative chemotherapy to decrease the extent of needed

Side effects of clofazimine therapy.

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84 patients of leprosy including 15 female patients were treated with Clofzimine on a predetermined dosage regimen. 76 of these were cases of recurrent lepra reaction; 4 cases of proven DDS resistance, 3 of these being complicated by lepra reaction; and 4 were cases of reactional state in Borderline

Massive cisplatin overdose by accidental substitution for carboplatin. Toxicity and management.

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BACKGROUND Unlike the related drug carboplatin, cisplatin is highly nephrotoxic and must be given with vigorous intravenous hydration at a much lower dose. As the result of an accidental substitution of cisplatin for carboplatin, a 68-year-old woman received a massive overdose of cisplatin without

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