Please use this identifier to cite or link to this item: http://hdl.handle.net/11054/222
Title: Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa.
Authors: Rajagopalan, Bishakha
Issue Date: 2001
Publisher: Wiley
Place of publication: United States
Publication Title: American Journal of Medical Genetics
Volume: 99
Issue: 3
Start Page: 181
End Page: 184
Abstract: 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.
URI: http://hdl.handle.net/11054/222
ISSN: 0148-7299
Internal ID Number: 00204
Health Subject: ICHTHYOSIS
BLINDNESS
ARACHNODACTYLY
ERYTHEMA
GENODETERMATOSIS
RETINITIS PIGMENTOSA
NBIE
CASE REPORT
Type: Journal Article
Article
Appears in Collections:Research Output

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