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|Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa.
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|American Journal of Medical Genetics
|Non-bullous ichthyosiform erythroderma (NBIE) is an autosomal recessive condition characterized by generalized erythema and scaling. Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome.
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