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Dear Editor, Olmsted syndrome (OS) is a rare inherited disorder characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with varying degrees of itching and pain.[1] Diffuse alopecia or curly sparse hair is a common feature of OS.[1] Our research, and the work of others, has previously demonstrated that mutations in I TRPV3 i cause autosomal dominant, recessive and semidominant OS.[[2]] Mutations in I MBTPS2 i have also been reported to underlie X-linked recessive OS.[5] Very recently, Duchatelet I et al i .[6] reported a new autosomal dominant form of OS caused by mutations in the I PERP i gene. In conclusion, we report a severe case of OS caused by a heterozygous I PERP i mutation and confirm that mutations in the specific region of PERP protein is the third genetic cause of OS. [Extracted from the article]

Background Xeroderma pigmentosum ( XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population. Objectives To investigate the mutational spectrum of XP in a Chinese Han population, to discover any genotype-phenotype correlation and, consequently, to propose a simple and effective tool for the molecular diagnosis of XP. Methods This study was carried out on 12 unrelated Chinese families that included 13 patients with clinically suspected XP. Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of eight XP genes. Results In 12 patients, direct sequencing of the whole coding region of eight XP genes revealed pathogenic mutations, including seven compound heterozygous mutations, three homozygous mutations and a Japanese founder mutation. Thirteen mutations have not been previously identified. This cohort was composed of four patients with XP-C ( XPC), two with XP-G ( ERCC5), three with XP-A ( XPA) and three with XP-V ( POLH). Conclusions This study identified 13 novel mutations and extended the mutation spectrum of XP in the Chinese Han population. In this cohort, we found that patients with XP-G have no neurological symptoms, and patients with XP-A and XP-V have a high incidence of malignancy. Furthermore, lack of stringent protection against sunlight, late diagnosis and long duration of disease play an important role. [ABSTRACT FROM AUTHOR]

Background Recent studies revealed that immune and immune-mediated inflammatory events may contribute to the pathogenesis of haemangioma. As a modulator of immune responses, the allograft inflammatory factor-1 (AIF-1) is involved in immune dysfunction and macrophage activation. Objective To investigate the possible role of AIF-1 in the progression of haemangioma. Methods In a retrospective study of haemangiomas in the oral and facial regions, we assessed lesional immunoreactivities for AIF-1, CD68 and Ki67. Negative controls were similarly confirmed, including 24 pyogenic granulomas, 26 vascular malformations, five samples of normal skin, 10 squamous cell carcinomas of the tongue and three placentas. Immunostaining for each antigen in the haemangiomas was compared with control tissues. Results Out of all the samples, intense immunoreactivity for AIF-1 was detected in 17 of 19 (89%) haemangioma specimens, with a specific location in the endothelial cells. The intensity of AIF-1 immunostaining did not show remarkable difference among proliferating, involuting and involuted haemangiomas. CD68-positive endothelial cells were found in the neovessels of haemangiomas, as well as in pyogenic granulomas and squamous cell carcinoma. Conclusions The exclusive expression of AIF-1 on endothelial cells of haemangiomas suggests that it may play a significant role in the pathophysiology and progression of haemangiomas. AIF-1 can be used as an additional biomarker for infantile haemangiomas. CD68-positive cells participate in the neovessel formation during proliferative haemangioma and contribute to the promotion of haemangioma growth. [ABSTRACT FROM AUTHOR]