ABSTRACT
A case of photosensitivity induced by itraconazole is reported. A 70-year-old woman had erythema, oedema and vesicles on sun-exposed areas after 5 days of itraconazole treatment for oral candidiasis. Oral photochallenge using itraconazole and sun irradiation was positive, but photopatch test was negative. Photosensitivity from azoles is an uncommon adverse effect. Only three other cases have been described, two induced by ketoconazole and one by itraconazole.
Subject(s)
Antifungal Agents/adverse effects , Dermatitis, Photoallergic/etiology , Itraconazole/adverse effects , Aged , Antifungal Agents/administration & dosage , Candidiasis, Oral/diagnosis , Candidiasis, Oral/drug therapy , Dermatitis, Photoallergic/diagnosis , Female , Follow-Up Studies , Humans , Itraconazole/therapeutic use , Risk AssessmentABSTRACT
Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency is an extremely rare autosomal recessive disorder affecting the activity of many sulfatases: arylsulfatase A, several mucopolysaccharide sulfatases, and steroid sulfatase. Certain aspects of the clinical phenotype can be attributed mainly to a deficiency of one specific sulfatase. Most patients develop metachromatic leukodystrophy caused by arylsulfatase A deficiency, dysostosis multiplex by mucopolysaccharide sulfatase deficiency, and ichthyotic skin by steroid sulfatase deficiency. We describe a 7-year-old boy with developmental delay from 7 months of age, progressive spastic quadriparesis, and coarse facial features. By 27 months of age, an ichthyotic rash had developed on the limbs, trunk, and scalp. A skin biopsy specimen revealed hyperkeratosis with a normal granular layer. The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis. This could reflect the residual activity of steroid sulfatase in some cases.
Subject(s)
Ichthyosis/complications , Leukodystrophy, Metachromatic/complications , Skin/pathology , Sulfatases/deficiency , Child , Female , Humans , Ichthyosis/pathology , Intellectual Disability/complications , Leukocytes/chemistry , Leukodystrophy, Metachromatic/diagnosis , Leukodystrophy, Metachromatic/genetics , Male , Skin Diseases , Sulfatases/analysisABSTRACT
Hepatoerythropoietic porphyria is characterized by an early beginning of severe photosensitivity, with an increase in urinary uroporphyrin excretion and other porphyrins, high isocoproporphyrin fecal levels and an accumulation of protoporphyrin in erythrocytes. It is caused by a dramatic decrease in the activity of the uroporphyrinogen decarboxylase. We report a clinical, biochemical and enzymatic study in a family, where a 2-year-old girl suffers from a hepatoerythropoietic porphyria, and the patient's maternal uncle from a porphyria cutanea tarda. We discuss the relationship between these diseases and their known mutations.
