The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients

Mevorah, B.; Marazzi, A.; Frenk, E.

doi:10.1111/j.1365-2133.1985.tb02336.x

Cited by 92 publications

(52 citation statements)

References 12 publications

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“…1 -4 Individuals with IV are characterized by a life-long history of generalized fine scaling that is accentuated on the extensor surfaces of the extremities and typically spares the great flexures and the neck. Associated findings include hyperkeratosis and hyperlinearity of the palms ('I-hand') and soles, 5 keratosis pilaris, 6 hypohydrosis, 7 atopic dermatitis (AD), 8 allergic rhinoconjunctivitis and asthma. 7,9 Histologically, the epidermis of IV subjects is characterized by hyperkeratosis and an attenuation or absence of the granular layer; 10 -12 however, in approximately 25 -50% of patients diagnosed with IV based on clinical criteria the stratum granulosum is histologically normal.…”

Section: Introductionmentioning

confidence: 99%

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

et al. 2006

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Ichthyosis vulgaris (IV) is the most common hereditary disorder of cornification in humans, characterized by generalized fine scaling of the skin, palmar hyperlinearity with or without keratosis pilaris and atopy. Recently, the molecular basis of IV was ascribed to loss-of-function mutations in the gene encoding filaggrin (FLG), namely p.R501X and c.2282del4. Homozygotes and compound heterozygotes were severely affected whereas heterozygotes showed mild disease or were asymptomatic, suggesting semidominant inheritance with incomplete penetrance in heterozygotes. We report the presence of FLG mutations in 15 out of 21 IV patients with a marked generalized scaling phenotype, including eight affected members of a four-generation family. In this group of patients not only homozygous and compound heterozygous, but also heterozygous patients for p.R501X and c.2282del4 display a pronounced phenotype, whereas in none of six individuals these two mutations were detectable despite decreased filaggrin expression on immunohistochemistry in two patients, indicating that other mutations in FLG and/or in other genes remain to be identified. In contrast, two additional p.R501X heterozygotes from the extended family are asymptomatic. In a control population from west-Austria a combined p.R501X and c.2282del4 carrier frequency of 6/110 (5.45%) was observed. We confirm that these FLG variants are common, but our results point to the existence of additional modifiers.

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Section: Introductionmentioning

confidence: 99%

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

et al. 2006

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“…It is usually aggravated in the winter time [5]. It has been associated with ichthyosis vulgaris and atopic dermatitis [3, 5]. In a previous study of young patients with insulin-dependent diabetes mellitus (IDDM) we found that the prevalence of KP was higher than in healthy controls, with a high correlation with high body mass index (BMI) and ichthyosiform skin changes on the shins [6].…”

Section: Introductionmentioning

confidence: 99%

“…Its prevalence as found in different studies ranges from 2% in Brazil to 44% in Switzerland and is as high as 80% in adolescent girls in England [2, 3, 4]. It appears in childhood, reaching its peak incidence in adolescence, and is more prevalent in girls [4].…”

Section: Introductionmentioning

confidence: 99%

High Body Mass Index, Dry Scaly Leg Skin and Atopic Conditions Are Highly Associated with Keratosis pilaris

Yosipovitch¹,

Mevorah²,

Mashiach³

et al. 2000

Dermatology

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Background: In a previous study we have found that young patients with insulin-dependent diabetes mellitus had a higher prevalence of keratosis pilaris (KP) than healthy controls, with a high correlation with body mass index (BMI) and ichthyosiform skin changes of the legs. Objectives: To investigate whether BMI, dry scaly legs and atopic conditions could be associated with KP in a healthy population of adolescents. Methods: A total of 202 Jewish adolescents chosen at random among students undergoing a routine medical examination at school participated in the study. The patients filled in a questionnaire for data on ethnic origin, the presence or history of allergic rhinitis, asthma or atopic dermatitis, the presence of thyroid disease, diabetes or dry skin. A similar questionnaire was sent to the family physician for verification. A general inspection of the skin was made for the presence of KP; the lower legs were also examined for dry scaly skin and ichthyosiform skin changes. Results: KP was present in 33 examinees (16%). Factors significantly associated with were dry scaly skin (p < 0.001, odds ratio, OR = 31.3, with 95% confidence interval, CI, 6.4–153.7), BMI >25 (p < 0.001, OR = 4.9, with 95% CI 2.2–11.2) and atopy (p = 0.001, OR = 4.5, with 95% CI 1.8–11.1). Conclusion: It therefore appears that KP is associated with multiple factors, including high BMI, leg skin dryness and atopic conditions.

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“…[1][2][3][4] IV, the most prevalent disorder of cornification in humans, is characterized by the delayed, postnatal onset of generalized, fine scaling that spares the flexures, and is often associated with palmar hyperlinearity and atopic dermatitis (AD). [5][6][7] In IV and AD, both nonsense and frameshift mutations have been discovered in the gene encoding FLG, which localizes to the epidermal differentiation complex on chromosome 1q21. 8 -17 Phenotype severity appears to be subject to a dose effect, wherein heterozygous patients show a milder phenotype with reduced, but not absent, FLG, whereas IV patients with homozygous or compound heterozygous FLG mutations typically lack FLG and exhibit a more severe scaling phenotype with a greater predisposition for early development and more severe AD.…”

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confidence: 99%

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

Gruber

Elias

Crumrine

et al. 2011

The American Journal of Pathology

219

238

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Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence of FLG mutations in Caucasians predicts dose-dependent alterations in epidermal permeability barrier function. Although FLG is an intracellular protein, the barrier abnormality occurred solely via a paracellular route in affected stratum corneum. Abnormal barrier function correlated with alterations in keratin filament organization (perinuclear retraction), impaired loading of lamellar body contents, followed by nonuniform extracellular distribution of secreted organelle contents, and abnormalities in lamellar bilayer architecture. In addition, we observed reductions in corneodesmosome density and tight junction protein expression. Thus, FLG deficiency provokes alterations in keratinocyte architecture that influence epidermal functions localizing to the extracellular matrix.These results clarify how FLG mutations impair epidermal permeability barrier function.

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The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients

Cited by 92 publications

References 12 publications

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

High Body Mass Index, Dry Scaly Leg Skin and Atopic Conditions Are Highly Associated with Keratosis pilaris

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

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