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Objective:To determine mutations in the PTPN11 gene in a family with LEOPARD syndrome.Methods:Clinical evaluation was carried out in a large pedigree with confirmed LEOPARD syndrome diagnosed in Hwa Mei Hospital, University of Chinese Academy of Sciences. Peripheral blood samples were obtained from 4 patients and 2 unaffected healthy members in the family, as well as 100 unrelated healthy controls. DNA was extracted from the blood samples, and PCR was performed to amplify all exons of the PTPN11 genes, followed by Sanger sequencing.Results:There were 14 members in 3 generations of the family, 6 of whom were affected (3 males and 3 females) , demonstrating an autosomal dominant inheritance pattern. Skin lesions were mainly distributed on the face, trunk and limbs, accompanied by special facial features and cardiovascular system abnormalities. A missense mutation c.1632G>T (p.R558L) in the PTPN11 gene was identified in the 4 patients, which resulted in the substitution of arginine by leucine at amino acid position 558. This mutation had not yet been reported previously. No mutation was detected in the PTPN11 gene in the 2 unaffected family members or 100 healthy controls.Conclusion:The missense mutation c.1632G>T in exon 13 of the PTPN11 gene may be the molecular basis for LEOPARD syndrome in this family.
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Objective To detect γ-secretase gene mutations in a large Chinese pedigree with acne inversa (AI).Methods Clinical evaluation was carried out in a large pedigree with AI through field investigation.Peripheral blood samples were obtained from 17 family members (11 affected and 6 unaffected) and 100 unrelated healthy human controls.DNA was extracted from the blood samples,and PCR was performed to amplify all the coding regions of PSEN 1,PSENEN and NCSTN genes followed by DNA sequencing analysis.Results There were 67 members over 5 generations in this family,of whom,25 (13 males and 12 females) were affected by AI.AI was inherited in an autosomal dominant manner in this family.Skin lesions were mainly distributed on the neck,back,chest and buttocks,and occasionally in subaxillary regions.DNA sequencing revealed a novel missense mutation,c.1258C＞ T (p.Q420XP),in the exon 11 of the NCSTN gene in 11 affected family members,which leads to a substitution of glutamine by a premature termination codon at amino acid 420 (p.Q420X).The mutation was undetected in either the unaffected members or the unrelated healthy controls,and had not been registered in the single nucleotide polymorphism (SNP) database in National Center for Biotechnology Information.Conclusions There is a novel heterozygous missense mutation,c.1258C ＞ T in the exon 11 of the NCSTN gene,which may be the molecular basis of pathogenesis of AI in this family.
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ObjectiveTo evaluate the effect of large-spot and low-energy Q switched Nd:YAG laser on melasma,and to observe the changes of melasma lesions with confocal laser scanning microscopy (CLSM) before and after the laser treatment.MethodsTotally,45 patients aged from 24 to 48 years and diagnosed with facial melasma were included in this study,and treated with large-spot and low-energy Q switched Nd:YAG once a week for 10 or more sessions.CLSM was used to estimate the melanin content in melasma lesions before each irradiation and after the last irradiation.ResultsAmong the 45 patients,8 ( 17.78％ ) were nearly cured,25 (55.56％) markedly improved,11 (24.44％) improved,and only 1 (2.22％) unimproved after the laser irradiation.The total response rate was 73.33％.As CLSM showed,there was an increment in melanin granules in melasma lesions compared with the normal skin surrounding melasma lesions,but a reduction in melanin granules was induced by the laser treatment in melasma lesions.ConclusionsLarge-spot and lowenergy Q switched Nd∶YAG laser is substantially effective and highly safe for the treatment of melasma,and CLSM can be used to evaluate the therapeutic effect of laser on melasma.
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Objective To analyze the skin barrier function in patients with facial steroid dermatitis.Methods Ninety-five patients with facial steroid dermatitis were enrolled into this study along with 25 healthy volunteers as controls.Transepidermal water loss(TEWL)and skin hydration were measured in 8 facial regions.including lesional skin in forehead,nasal tip,submaxilla,both cheeks and angulus oris,and non-lesional skin in the left posteior ear.Results Compared with the healthy group,the patients with steroid dermatitis had a significant higher value of TEWL on lower mandible,both angulus oris and cheeks(t:4.90,2.60,2.57,2.54,3.77,respectively,P＜0.01),while a significant lower level of skin hydration was noted on both angulus otis,right cheek and forehead(t=3.27,3.81,2.02,2.78,respectively,P＜0.05).Among the 8 test sites in both patients and controls,TEWL value decreased in the following order:submaxilla and both angulus oris＞both cheeks and forehead＞non lesional skin on the posteroir ear,and the decrease in skin water content was highest in submaxilla and both angnlus oris,followed by cheeks and forehead,and finally by left posterior ear.Conclusions In patients with facial steroid dermatitis,skin barrier function is disturbed on submaxilla,both angnlus oris and cheeks,and TEWL value is found to be higher in perioral area,while cheeks have a lower level of skin hydration.