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ABSTRACT: A new entity was described by Crickx et al. in 1991, associating amicrobial pustulosis of the folds with systemic lupus erythematosus in young females. It is proposed to regroup this entity under the name of 'neutrophilic cutaneous lupus'. We report a case of a 13-year-old girl with a pustular eruption of the cutaneous folds and scalp associated with undetermined connective tissue disease. We performed a screening for the expression of 174 cytokines in the pustules and compared it with other pustular diseases (acne flare, acute generalized exanthematous pustulosis, pustulosis of Sneddon and Wilkinson). Matrix metalloproteinase 9 and Siglec-5 (CD170) were highly expressed in all types of pustules and reflect high neutrophil density. Amicrobial pustulosis of the folds was characterized by a higher expression of interleukin (IL) 1alpha, IL-2 receptor alpha, macrophage colony-stimulating factor, insulin-like growth factor binding protein 1, brain-derived neurotrophic factor, tumour necrosis factor (TNF) alpha and a lower expression of CD14, IL-1beta, IL-12, soluble TNF receptors I and II, growth-regulated oncogene alpha, fibroblast growth factor 4 and vascular endothelial growth factor as compared to the controls.
Dermatology 02/2008; 216(4):324-9. · 2.05 Impact Factor
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J Mazereeuw-Hautier,
E Bitoun,
J Chevrant-Breton,
S Y K Man,
C Bodemer,
C Prins, C Antille,
J-H Saurat,
D Atherton,
J I Harper,
D P Kelsell,
A Hovnanian
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ABSTRACT: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2).
To establish whether there is a correlation between genotype and phenotype in KID syndrome.
Clinical examination and molecular analysis of GJB2 were performed in a cohort of 14 patients with KID syndrome originating from 11 families. We also reviewed the 23 cases with molecular analysis previously reported in the literature.
The patients displayed the classical signs of KID syndrome with the additional finding of inflammatory nodules in six patients (43%); this clinical finding has not been described previously in the literature. One patient presented at the age of 18 years with a fatal carcinoma of the tongue, an extremely rare reported complication. For seven of the 11 families (64%) the disease was sporadic, whereas it was familial in the remaining four families (36%). Twelve patients (86%) were heterozygous for the p.Asp50Asn mutation and two patients (14%) were heterozygous for the p.Ser17Phe mutation. Surprisingly, a family in which we personally examined the healthy parents had two affected children heterozygous for the p.Asp50Asn mutation, suggesting germinal mosaicism. Compared with patients with the p.Asp50Asn mutation, the two patients with the p.Ser17Phe mutation had more severe skin involvement. One of these two patients experienced a carcinoma of the tongue.
Familial cases appear to be more frequent than reported in the literature. The possibility of germinal mosaicism must be taken into account for genetic counselling. This study also suggests that patients with the p.Ser17Phe mutation may have a more severe phenotype and could be at higher risk for tongue carcinoma.
British Journal of Dermatology 06/2007; 156(5):1015-9. · 3.67 Impact Factor
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J. Mazereeuw-Hautier,
E. Bitoun,
J. Chevrant-Breton,
S.Y.K. Man,
C. Bodemer,
C. Prins, C. Antille,
J.-H. Saurat,
D. Atherton,
J.I. Harper,
D.P. Kelsell,
A. Hovnanian
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ABSTRACT: Background Keratitis–ichthyosis–deafness (KID) syndrome is a rare congenital disorder characterized by the association of skin lesions, hearing loss and vascularizing keratitis. KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2).Objectives To establish whether there is a correlation between genotype and phenotype in KID syndrome.Methods Clinical examination and molecular analysis of GJB2 were performed in a cohort of 14 patients with KID syndrome originating from 11 families. We also reviewed the 23 cases with molecular analysis previously reported in the literature.Results The patients displayed the classical signs of KID syndrome with the additional finding of inflammatory nodules in six patients (43%); this clinical finding has not been described previously in the literature. One patient presented at the age of 18 years with a fatal carcinoma of the tongue, an extremely rare reported complication. For seven of the 11 families (64%) the disease was sporadic, whereas it was familial in the remaining four families (36%). Twelve patients (86%) were heterozygous for the p.Asp50Asn mutation and two patients (14%) were heterozygous for the p.Ser17Phe mutation. Surprisingly, a family in which we personally examined the healthy parents had two affected children heterozygous for the p.Asp50Asn mutation, suggesting germinal mosaicism. Compared with patients with the p.Asp50Asn mutation, the two patients with the p.Ser17Phe mutation had more severe skin involvement. One of these two patients experienced a carcinoma of the tongue.Conclusions Familial cases appear to be more frequent than reported in the literature. The possibility of germinal mosaicism must be taken into account for genetic counselling. This study also suggests that patients with the p.Ser17Phe mutation may have a more severe phenotype and could be at higher risk for tongue carcinoma.
British Journal of Dermatology 03/2007; 156(5):1015 - 1019. · 3.67 Impact Factor
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ABSTRACT: The stratum corneum (SC), as the skin layer most exposed to various environmental factors, is particularly susceptible to oxidative stress. Due to the high lipid content of the SC, lipophilic antioxidants such as alpha-tocopherol are expected to play a major role in scavenging reactive oxidant intermediates produced during oxidative stress.
Since the skin of atopic dermatitis patients has an impaired barrier function, we wondered if they were more susceptible to environmental oxidative stress than healthy subjects.
SC was collected by scraping the forearm of 14 healthy volunteers and 14 patients with atopic dermatitis; then, alpha-tocopherol and lipid peroxide concentrations were assessed by high-performance liquid chromatography and ferrous oxidation, respectively.
The SC from atopic patients showed a higher concentration of alpha-tocopherol (16.1 +/- 2.2 nmol/g) as compared to healthy controls (7.7 +/- 0.9 nmol/g; p < 0.01), as well as a slightly but significantly lower concentration of lipid peroxides (1,353 +/- 128 and 1,818 +/- 154 nmol/g for atopic dermatitis patients and healthy controls, respectively; p < 0.05).
These results show that the SC of atopic dermatitis patients exhibits a significantly less pronounced oxidative state. This may be the consequence of an increase in cutaneous antioxidant defences due to chronic inflammation.
Dermatology 02/2002; 204(1):69-71. · 2.05 Impact Factor
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ABSTRACT: The human epidermis contains endogenous retinoids [retinol (vitamin A) and retinyl esters] and carotenoids (mostly beta-carotene). Previous studies in the mouse have shown that the enzymes involved in retinoid metabolism are present in the epidermis. In this study, we wanted to assess the skin penetration and metabolism of topical retinoids in the human. To do this, fresh surgically excised human abdominal skin was mounted on Franz perfusion cells. Topical retinoic acid, retinal, retinol and retinyl palmitate were applied at 2.5 mg/cm(2) in oil-in-water creams containing 0.05% retinoids on the donor compartment, while the receptor compartment was filled with culture medium. The skin was incubated for 24 h at 37 degrees C, then epidermal retinoid concentrations were determined by HPLC. The same experiment was performed with mouse back skin mounted on Franz cells. Finally, topical retinoids were applied on the back of hairless mice for 24 h; then the mice were sacrificed and retinoid concentrations were assayed in the epidermis. In all three models, retinol and its esters were found to be endogenous, as was the case in previous studies in the mouse in vivo. The four applied retinoids penetrated well into the epidermis. Topical retinoic acid did not increase endogenous retinoids, whereas the latter were greatly increased following topical retinal in the mouse. Retinal was also metabolized into retinoic acid, unlike topical retinol and retinyl palmitate, which only increased endogenous retinoids. Topical retinal and retinol did undergo a higher metabolism in both mouse models than in human skin. In summary, the penetration and metabolism patterns of topical retinoids were quite similar in the two mouse models used, indicating that the Franz cells appear to be a good model to predict in vivo metabolism of topical retinoids. When applying this concept to our results obtained in Franz cells with human skin, we conclude that topical retinol and retinal load human skin with both storage and functional vitamin A.
Skin pharmacology and physiology 17(3):124-8. · 2.92 Impact Factor
