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Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.

Psoriasis impacts the quality of life (QoL) by disrupting overall health and social life. Thus, the use of a QoL evaluation item is crucial in assessing a therapeutic regimen. Also, faster improvements in QoL lead to better patient compliance, but very few studies compare psoriasis traditional and biologic therapies timing. To evaluate how much different systemic therapies improve disease severity and QoL, a retrospective analysis was performed on 56 patients. Subjects were administered different drugs and their vital statistics, psoriasis area severity index (PASI) and PSOdisk were collected at baseline and after 30 days. We found a moderate correlation between PASI and PSOdisk score with (r): .62. In terms of clinical scores improvement after 30 days, Ustekinumab turned out to be the fastest therapy available, while cyclosporine, among the systemic therapies available, appeared as highly competitive if not better than other biologic therapies.

Purpose: The purpose of this study was to show that gender also plays an important role in pharmacokinetics, pharmacodynamics, and drug toxicity. It is only fair to take into account the so-called “gender-based medicine.” Methods: We again selected admission for cutaneous adverse drug reaction (CADRs), from January 2012 to July 2012, in order to detect and verify, in an analytical way, the substantial gender differences in adverse drug reactions in term incidence, clinical manifestations, severity and drugs involved. Results:In the period January–July 2012, at the Department of Dermatology and Sexually Transmitted Disease of A.O.U.P. “Paolo Giaccone” Palermo, 384 patients were admitted, of which 192 were females (50%) and 192 males (50%). Out of a total of 384 patients, 34 cases of CADRs (8.9%) were identified including 24 females (71%) and 10 males (29%). Conclusions: The female gender is an important predisposing factor for the RAF: a large case series showed that in the RAF female/male ratio is 1.7:1.

Background: Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene (CYP21) has a high degree of variability. Objective: This study was conducted to evaluate CYP21 gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. Methods: 30 out of 61 women enrolled underwent pelvic ultrasound examination and hormonal screening. In 9 patients with a polycystic ovary and hormonal pattern of adrenal hyperandrogenism a significant elevation of adrenocorticotropic hormone (ACTH) stimulated 17-hydroxyprogesterone was detected. These women positive in the ACTH stimulation test were submitted to CYP21 gene analysis. Results: Genetic testing revealed several different point mutations and demonstrated that a cohort of patients resistant to acne therapy can be carriers or affected by non-classical 21-OHD (late onset). Conclusion: Persistent acne can be the unique presenting sign of non-classical 21-OHD. Evaluation of CYP21 gene mutations may identify female carriers or patients for genetic counselling.