1990
DOI: 10.1001/archderm.126.11.1485
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Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity

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Cited by 16 publications
(10 citation statements)
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“…We also have provided experimen tal evidence for a relationship of barrier func tion to the presence of separate polar and non polar lipid constituents in mouse SC [19]. Moreover, a number of scaling dermatoses associated with inherited disorders of lipid metabolism reveal phase separation in the intercellular spaces, presumably due to com positional imbalances that persist into the SC interstices [20][21][22]. These scaling disorders also generally display abnormal barrier func tion, in addition to altered desquamation [23].…”
Section: Discussionmentioning
confidence: 99%
“…We also have provided experimen tal evidence for a relationship of barrier func tion to the presence of separate polar and non polar lipid constituents in mouse SC [19]. Moreover, a number of scaling dermatoses associated with inherited disorders of lipid metabolism reveal phase separation in the intercellular spaces, presumably due to com positional imbalances that persist into the SC interstices [20][21][22]. These scaling disorders also generally display abnormal barrier func tion, in addition to altered desquamation [23].…”
Section: Discussionmentioning
confidence: 99%
“…The epidermal phenotype is quite characteristic, exhibiting a ridge or lichenified pattern with fine, brown desquamation and prominent pruritus, which may be caused by coaccumulation of the proinflammatory leukotriene metabolite, leukotriene B 4 (91,94). Although the pathogenesis of the putative barrier abnormality is still unknown, epidermal LB contents are abnormal (95) and extracellular lamellar bilayers exhibit structural abnormalities consistent with lamellar/nonlamellar phase separation (95,96).…”
Section: Slsmentioning
confidence: 99%
“…RD (OMIM 266500) is a rare disorder caused by a defect in the first step in peroxisomal boxidation of phytanic acid, a C16 saturated fatty acid with four additional methyl groups at C3, C7, C11, and C15 (96). This branched chain fatty acid is enriched in tissues of ruminant animals (97).…”
Section: Disorders Of Peroxisomal Fatty Acid Metabolismmentioning
confidence: 99%
“…The severe barrier abnormality in NS can be explained by premature LB secretion and the extensive disruption of lamellar processing and organization observed herein. The amorphous, electron-dense material that forms clefts in NS may form an aqueous pore, perhaps explaining why barrier function is more impaired in NS than in other disorders of cornification where lipids are likely to form the abnormal, nonlamellar phase, eg, Refsum disease, Sjö gren-Larsson syndrome, 56 and neutral lipid storage disease. 57 The interaction of desmosomes (corneosomes) within the SC with lamellar membrane structures is also disturbed by the accumulation of excess electron-dense material in NS ( Figure 6).…”
Section: Commentmentioning
confidence: 99%