Abraham Zlotogorski

..Consequently, this model can serve as a useful tool for future screening of potential compounds for prevention and treatment of sulfur mustard-induced skin lesions...

..Cutaneous South American leishmaniasis is caused by several species of leishmaniasis. Lack of appropriate treatment may lead to mucocutaneous leishmaniasis, mainly with L. b. braziliensis and L. b. panamensis...

..This represents the first report of a co-dominant keratin hHb6 mutation resulting in severe disease...

..Our findings have important implications for genetic counseling to monilethrix patients and families, and suggest that DSG4-associated hair disorders may be more common than previously thought...

..We sought to document the clinical and molecular features of APL and VDDR IIA...

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..In five patients no mutations were found, while in two patients we identified de novo germline missense mutations at the helix termination motif: E402K (hHb6) and E413K (hHb1)...

..The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder...

..Mutations in lipase H (LIPH) are a rare cause of autosomal recessive hypotrichosis (HT) simplex...

..The aim of this paper is to increase awareness to this recently described disorder, and to emphasize that H syndrome should be included in the differential diagnosis of congenital or acquired syndromic hearing loss in children...

..This syndrome may represent a new autosomal recessive auto-inflammatory genodermatosis. Increased awareness may lead to the discovery of more cases, and clarify its pathogenesis...

..Collectively, we anticipate that an increased recognition of this disorder will result in more accurate diagnosis and the sparing of unnecessarily treatment to patients...

..The disorder has been previously mapped to a 7Mb interval on chromosome 5q14 (CMC1 locus) in an Italian pedigree with randomly distributed telangiectases...

..So far, mutational analysis has been performed in only seven families and revealed 11 mutations in the MANBA gene which encodes the enzyme beta-mannosidase...

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..This case further emphasizes the role of ECM-1 in LP and highlights the unresolved genotype-phenotype correlation in this disease...

..To describe the spectrum of radiological findings in 12 patients with H syndrome...

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..We conclude that the above findings are essential for the diagnosis of H syndrome and that incisional biopsies are mandatory for recognition of the full spectrum of histopathological findings...

..Theses two outcomes improved significantly after the intervention. This study demonstrates how nurses can play a major role in both patient and staff education and with performing organizational chance to strengthen patient safety...

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..Considering the fact that allergic rhinitis is a common chronic condition of childhood, increased awareness of the skin manifestations which accompany this condition is essential...

..Cerebral proton magnetic resonance spectroscopy in those with SLS demonstrates an abnormal white matter peak at 1.3 ppm, consistent with long-chain fatty alcohol accumulation...

..This phenomenon raises some interesting questions regarding the significance of pigmentation and the melanocortin-1 receptor in AA pathogenesis...

..We describe emperipolesis in the cutaneous lesions of a patient with H syndrome, further supporting the relationship between Rosai-Dorfman disease and H syndrome...

..Although relatively rare, physicians should be aware of this side effect and inform their patients when prescribing this medication...

..This result suggests that the TRID2 domain either is dispensable in the hr-TR interaction or is not involved in the pathogenesis of APL...

..We also revise the diagnostic criteria for atrichia with papular lesions in order to clarify its uniqueness and distinguishing features from alopecia universalis...

..Collectively, identification of 5 novel and 3 recurrent mutations further supports the role of FH in the pathogenesis of MCL...

..Interestingly, the major loci on chromosomes 16 and 18 coincide with loci for psoriasis reported elsewhere. These results suggest that these regions may harbor gene(s) involved in a number of different skin and hair disorders...

..These results provide further evidence for the role of the FH gene in the pathogenesis of MCL...

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..The mutation identified in this study is a novel mutation in the DSG1 gene and extends the body of evidence implicating the desmoglein gene family in the pathogenesis of human skin disorders...

..Atrichia with papular lesions (APL) is a rare, autosomal recessive form of total alopecia in which mutations in the hairless (HR) gene have been shown to underlie the phenotype...

..These novel mutations add to the growing literature of mutations in the hairless gene found in nonconsanguineous families and expands the allelic series of mutations in this gene...

..The final section by Leroy and Van Neste highlights the difficulties of evaluating therapeutic interventions in hair loss disease and proposes a new technique...

..No mutations have previously been detected in this population. CONCLUSION: The growing number of heterozygous mutations in non-consanguineous pedigrees supports the hypothesis that APL is more common than previously expected...