BackgroundPoikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.ResultsWe characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene. We detect the two novel C16orf57 mutations, c.232C>T and c.265+2T>G, as well as the already reported c.179delC, c.531delA and c.693+1G>T mutations. cDNA analysis evidences the presence of aberrant transcripts, and bioinformatic prediction of C16orf57 protein structure gauges the mutations effects on the folded protein chain.Computational analysis of the C16orf57 protein shows two conserved H-X-S/T-X tetrapeptide motifs marking the active site of a two-fold pseudosymmetric structure recalling the 2H phosphoesterase superfamily. Based on this model C16orf57 is likely a 2H-active site enzyme functioning in RNA processing, as a presumptive RNA ligase.According to bioinformatic prediction, all known C16orf57 mutations, including the novel mutations herein described, impair the protein structure by either removing one or both tetrapeptide motifs or by destroying the symmetry of the native folding.Finally, we analyse the geographical distribution of the recurrent mutations that depicts clusters featuring a founder effect.ConclusionsIn cohorts of patients clinically affected by genodermatoses with overlapping symptoms, the molecular screening of C16orf57 gene seems the proper way to address the correct diagnosis of PN, enabling the syndrome-specific oncosurveillance.The bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function. Detection of aberrant transcripts, also in cells from PN patients carrying early truncated mutations, suggests they might be translatable. Tissue-specific sensitivity to the lack of functionally correct protein accounts for the main cutaneous and haematological clinical signs of PN patients.

Acne vulgaris is a common inflammatory disorder of the skin. Oral antibiotics are known to be effective in its treatment. A randomized, investigator-blinded study was performed to compare the efficacy of azithromycin with doxycycline. Fifty-one patients were randomized to receive either azithromycin 500 mg/day on 3 consecutive days per week in the first, on 2 consecutive days per week in the second, and on 1 day per week in the third month. The other group was given doxycycline twice a day for the first month and once a day for the second and third months. Clinical assessment was made at baseline, at the end of first, second, third, and post-treatment first and second months. Side effects were recorded. Statistically significant improvement for the facial lesions were obtained with both drugs. Neither drug was shown to be more effective than the other. The beneficial effect continued until 2 months after treatment. In the azithromycin group three patients had diarrohea, while photosensitivity was seen in two patients using doxycycline. This study indicates that azithromycin is at least as effective as doxycycline in the treatment of acne.

Chemotherapy-induced acral erythema is a frequent reaction in patients who are receiving high-dose chemotherapy. For patients in whom this self-limited condition develops, reassurance is the mainstay of therapy. Awareness of this reaction is also important to be able to differentiate it from acute graft versus host disease in patients who receive bone marrow transplants.

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