[Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases].
We report the cases of 2 boys and 1 girl suffering from Netherton syndrome. Both boys presented with a non-bullous congenital erythroderma and were diagnosed early as Netherton syndrome with hair biopsies. Both had severe failure to thrive, signs of atopy, several episodes of bacterial infection, and rickets (with a high blood level of vitamin D in the first boy, and vitamin D deficiency in the second). In the third case, the pilar abnormality appeared at the age of 3 years. The girl had ichtyosis linearis circumflexa, failure to thrive and severe constipation. Netherton syndrome is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and failure to thrive. The disease is severe and comprises many complications in early infancy. It is due to a genetic disorder of recessive autosomal transmission, and the gene, SPINK5, is located in the chromosome 5. Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population.
André
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Service de rééducation fonctionnelle pédiatrique l'Escale, pavillon 6F, centre hospitalier Lyon-Sud, chemin du Grand-Revoyet, 69495 Pierre-Bénite cedex, France. elisabeth.andre@chu-lyon.fr
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Fouilhoux
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Hovnanian
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Lachaux
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D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005183:Failure to Thrive / Q000473:pathology*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000473:pathology*; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D007223:Infant; D008297:Male; D053491:Proteinase Inhibitory Proteins, Secretory; D012279:Rickets / Q000473:pathology*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors / Q000235:genetics; D013577:Syndrome
D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors