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- W2040902981 abstract "Sir, Autosomal recessive ichthyoses (ARI) are heterogeneous disorders, with diverse clinical presentations and course. We report a patient with ARI and a striking progressive macular leucoderma. A 1‐year‐old girl was first seen in our department in 1993 because of scaling erythroderma since birth. Her parents were not consanguineous, and another sibling was normal. She was born at term, and did not have a collodion baby phenotype. Examination showed diffuse erythroderma with extensive, fine scaling, and palmoplantar keratoderma. She also had severe ectropion and diffuse hair loss. The remainder of the general examination was normal, as well as thorough neurological and ophthalmological examinations. Full blood count and film, serum biochemistry, immunological profile, blood phytanic acid and very long chain fatty acid levels, biotinidase activity, and urinary excretion of oligosaccharides and amino acids were all normal. Direct light microscopy, polarized light microscopy and scanning electron microscopy of the hairs and eyebrows were repeatedly normal. Cysteic acid content of the hairs was not different from that in a normal control. Brain magnetic resonance imaging did not show any abnormality. Three skin biopsy specimens (two from the trunk and one from the thigh), taken at different times, showed similar results: intense hyperkeratosis with parakeratosis, follicular plugs, acanthosis, and elongation of rete ridges. The granular layer was almost absent. An intense vascular hyperplasia and dilatation was seen in the dermis. Electron microscopy showed striking lipid vacuoles in the stratum corneum cells." @default.
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- W2040902981 date "2001-06-01" @default.
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- W2040902981 title "Progressive macular leucoderma in a patient with congenital ichthyosiform erythroderma" @default.
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- W2040902981 doi "https://doi.org/10.1046/j.1365-2133.2001.04259.x" @default.
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