ICHTHYOSIS - MECHANISMS OF DISEASE

被引:32
作者
WILLIAMS, ML
机构
[1] Dermatology Service, Veterans Administration Medical Center, Departments of Dermatology and Pediatrics, University of California, San Francisco, California
关键词
D O I
10.1111/j.1525-1470.1992.tb00632.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
The disorders of cornification (ichthyoses) comprise acquired and inherited disorders characterized clinically by generalized scaling and histologically by hyperkeratosis. They may arise through defects in the production or maintenance of a normal cornified cell compartment, or both. The stratum corneum is composed of protein-enriched and lipid-depleted corneocytes ("bricks") surrounded by an intercellular domain ("mortar") composed of hydrophobic, lipid-enriched membrane bilayers, and containing desmosomes and a limited array of hydrolytic enzymes. Mechanisms whereby a genetic defect involving either the bricks or the mortar may result in abnormal stratum corneum retention are discussed using ichthyosis vulgaris and recessive X-linked ichthyosis as examples. In addition, epidermal hyperproliferation, which floods the cornified cell compartment with incompletely formed units, results in hyperkeratosis. To date, no primary disorders of epidermal hyperproliferation have been defined. Recent work, however, demonstrates that stratum corneum barrier function regulates epidermal DNA synthesis. For example, in essential fatty acid deficiency, barrier dysfunction is responsible at least in part for the epidermal hyperproliferation. Defective barrier function due to defective lamellar body secretion may also underlie the phenotypic changes after birth in harlequin ichthyosis; that is, from the massive, constrictive hyperkeratosis of the newborn to an exfoliative erythroderma in survivors. The mechanisms whereby specific defects in cornification result in generalized scaling disease are only beginning to be defined. Yet, even at this early stage, the view of the stratum corneum as a tightly organized structure whose function is highly regulated is emerging. Hence, the disorders of cornification should provide important insights into stratum corneum structure and function.
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页码:365 / 368
页数:4
相关论文
共 38 条
[21]  
Rehfeld SJ, Plachy WZ, Williams ML, Elias PM., Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum comeum: molecular basis for normal cohesion and abnormal desquamation in recessive X‐linked ichthyosis, J Invest Dermatol, 91, pp. 499-505, (1988)
[22]  
Cheetam JJ, Epand RM, Andrews M, Flanagan TD., Cholesterol sulfate inhibits the fusion of sendai virus to biological and model membranes, J Biol Chem, 65, pp. 12404-12409, (1990)
[23]  
Lundstrom A, Egelrud T., Cell shedding from human plantar skin in vitro: evidence of its dependence onendogenous proteolysis, J Invest Dermatol, 91, pp. 340-343, (1988)
[24]  
Grayson S, Johnson-Winegar AG, Wintroub BU, Epstein EH, Elias PM., Lamellar body‐enriched fractions from neonatal mice: preparative techniques and partial characterization, J Invest Dermatol, 83, pp. 289-295, (1985)
[25]  
Proksch E, Feingold KR, Mao-Quiang M, Elias PM., Barrier function regulates epidermal DNA‐synthesis, J Clin Invest, 87, pp. 1668-1673, (1991)
[26]  
Lawlor F, Peiris S., Harlequin fetus successfully treated with etretipate, Br J Dermatol, 112, pp. 585-4590, (1985)
[27]  
Rogers M, Scarf C., Harlequin baby treated withetretinate, Pediarr Dermatol, 6, pp. 216-221, (1989)
[28]  
Roberts LJ., Long‐term survival of a harlequin fetus, J Am Acad Dermatol, 2 l, pp. 335-339, (1981)
[29]  
Dale BA, Holbrook KA, Reckman P, Kimball JR, Brumbaugh S, Sybert VF., Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization
[30]  
variable morphology and structural protein expression and a defect in lamellar granules, J Invest Dermatol, 94, pp. 6-18, (1990)