1929
DOI: 10.1007/bf02158983
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Lipoidosis cutis et mucosae

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Cited by 248 publications
(117 citation statements)
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“…From a clinical perspective, patients with mutations outside exon 7, compared to those with mutations inside exon 7, have a similar clinical presentation, but with a more severe phenotype for respiratory and skin manifestations of LiP. Extracutaneous features including epilepsy, mental retardation, migraine and psychiatric abnormalities were equally found in patients lacking only ECM1a compared with patients lacking both transcripts [26][27][28][29][30]. These findings favor the hypothesis that the isoforms containing exon 7 (ECM1a/c) are of more fundamental biological importance than ECM1b [23,27].…”
Section: Ecm1 and Lipoid Proteinosismentioning
confidence: 99%
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“…From a clinical perspective, patients with mutations outside exon 7, compared to those with mutations inside exon 7, have a similar clinical presentation, but with a more severe phenotype for respiratory and skin manifestations of LiP. Extracutaneous features including epilepsy, mental retardation, migraine and psychiatric abnormalities were equally found in patients lacking only ECM1a compared with patients lacking both transcripts [26][27][28][29][30]. These findings favor the hypothesis that the isoforms containing exon 7 (ECM1a/c) are of more fundamental biological importance than ECM1b [23,27].…”
Section: Ecm1 and Lipoid Proteinosismentioning
confidence: 99%
“…Mutations in ECM1 are causative for LiP, an autosomal recessive disorder, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae (OMIM 247100) [26,27]. LiP is mainly a mucocutaneous disorder characterised by laryngeal infiltration leading to hoarseness, generalised thickening and scarring of skin and mucosae, beaded eyelid papules, waxy yellow skin papules and nodules.…”
Section: Ecm1 and Lipoid Proteinosismentioning
confidence: 99%
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“…1 LP, also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM: 24700) was first described in 1929. 2 It is characterized by varying degrees of hoarseness of voice and skin and mucosal derangements. Associated findings include epilepsy, mild mental retardation, respiratory tract obstruction, abnormal dentition and ocular abnormalities.…”
Section: Introductionmentioning
confidence: 99%
“…Lipoid proteinosis, also called Urbach-Weithe disease [1] or hyalinosis cutis et mucosae, is a rare disease with much rarer occurrence in siblings. This genodermatosis is an autosomal recessive disease with involvement of the oral cavity, oropharynx and larynx along with characteristic cutaneous lesions occurring due to deposition of amorphous hyaline material.…”
Section: Introductionmentioning
confidence: 99%