Ectodermal dysplasia (ED) syndrome is a rare genetic disease that involves a heterogeneous group of hereditary disorders that occur as a result of mutations in genes that code for development of fetal ectoderm and lead to numerous disorders. Defects in the development of the ectoderm cause symptoms in tissues derived from the ectoderm layer, such as skin, nails, hair, and teeth. Because many pathways are involved in the development of the ectoderm, there are mutations in many genes that cause ED. Owing to the heterogeneity of ED, there are different types of the disease that have different symptoms. These symptoms include sparse hair, abnormal or missing teeth, nail dystrophy, lack of sweating owing to the absence of sweat glands, and cancer. In this review, in addition to discussing the role and pathway of each of the genes involved in ED, the incidence of cancer in these patients, diagnostic methods and differentiation from other similar diseases, and the treatments currently being performed for ED are discussed.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Objective This study aimed to assess the importance of male ejaculation on female satisfaction and orgasm. Background Although links between ejaculatory control or intravaginal ejaculatory latency time and female sexual function have been reported in the past, little research has focused on the effect of ejaculation on female satisfaction and orgasm. Methods The study was carried out on 221 of married women aged 18-50+ years. The tool used was a self-report questionnaire written in English and translated into Arabic. Results More intense orgasm and more satisfaction was reported by 58.4% of women if husbands ejaculated intravaginally without a condom. Among participants 47.1% didn’t perceive the quantity of husbands ejaculate as an expression of their own sexual attractiveness. Male condom was used by 34.8% of husbands and frequency of reaching orgasm was lower in women of these men. Although use of condom prolongs intravaginal latency time, 60% of participants were unsatisfied with their sexual life if husbands ejaculate in condom. The commonest coital frequency was once/week (45.2%). Dyspareunia was a complaint of 40.7% of participants. Coital frequency declined with advance in age, vaginal intercourse was the preferred sexual activity in almost all age groups and only 35.7% of the participants could reach orgasm in almost each intercourse most commonly because of life problems and work tensions Conclusion Intravaginal male ejaculation may give women more intense orgasm and satisfaction.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Nevus spilus (NS; synonym: speckled lentiginous nevus) − benign congenital or, more often, acquired melanocytic nevus − is characterized by numerous foci of hyperpigmentation located on a light brown background with possible transformation into malignant tumors. Its prevalence is ∼2% among the general population. NS sizes vary from 2 to 10 cm in diameter, but more extensive lesions have been described. Patients turn to a dermatologist when NS is located in aesthetically significant areas owing to cosmetic problems. Surgical methods for removing NS are associated with a risk of scarring. The use of various types of lasers for the treatment of NS has allowed successful results. However, it is accompanied by adverse effects such as scars, postinflammatory hyperpigmentation, and relapses. Our experience in treating benign melanocytic skin lesions using copper vapor laser (CVL) radiation, which allows selective heating of the pigment and blood vessels, gives us grounds for using CVL to treat NS. For the first time, we describe an innovative method of treating NS with dual-wavelength CVL radiation. A case of NS (medium size 50×40 mm) located in the cheek area was treated in a 39-year-old fair-skinned patient with type II skin, according to Fitzpatrick. NS treatment was carried out with the following parameters of the CVL (Yakhroma-Med model, P.N. Lebedev Physical Institute of the Russian Academy of Sciences): average power 0.6–0.8 W, with a power ratio of 3:2, at wavelengths of 511 and 578 nm. The pulse duration is 20 ns, the repetition rate is 16.6 kHz, the exposure time is 0.2–0.3 s, and the diameter of the light spot on the skin is 1 mm. After six treatments, the color of the hyperpigmented area, dark macules, and papules were eliminated. The follow-up period was 24 months. Medium-sized NS treatment with CVL provided complete elimination of the pathological focus and provided excellent cosmetic results. No relapse was observed within 24 months after treatment.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background Serum amyloid A (SAA) is an acute-phase protein that activates immune cells and induces cytokines and chemokine. SAA levels in the blood have been reported to be elevated in case of inflammation, infections, neoplasia, and tissue injury. This study measured the SAA in patients with atopic dermatitis (AD) and evaluated the association between the severity of AD and their values. Patients and methods A total of 52 patients with AD (22 males and 30 females) were involved in our study. Subjects were characterized as having atopic eczema (eAD; n=25) extrinsic type AD or nonatopic (iAD; n=27) intrinsic AD by serum immunoglobulin E level. Serum soluble IL-2R (IL-2R) and SAA levels were measured. Results The serum SAA levels was detectable in all patients with AD, showing significantly higher levels (P=0.026) in the patients with eAD (207 pg/ml; 95% confidence interval: 172–242 pg/ml) compared with those with iAD (144 pg/ml; 95% confidence interval: 116–178 pg/ml). The serum SAA levels were significantly correlated with eosinophil counts and sIL-2R levels and showed a tendency to correlate with SCORAD index and serum immunoglobulin E levels. Conclusion These results suggest SAA level as a parameter of AD activity and may support its possible role in the pathogenesis of AD.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background Cow’s milk has been shown to contribute to flare-up of atopic dermatitis, whereas breastfeeding was thought to help reduce the severity of the flare-ups of the condition. Aim To investigate whether breastfeeding or cow’s milk (bottle formula) has an influence on the course of and onset of atopic dermatitis symptoms. Three feeding modalities were evaluated. These are ‘breastfed,’ ‘bottle-fed,’ or ‘breast and bottle-fed.’ Patients and methods Medical records from general practice of patients aged 2 years or less with diagnosis of eczema, atopic dermatitis, atopic eczema, and infantile eczema were reviewed. A cohort of 131 patients was divided into three categories: (a) breastfed, (b) bottle-fed, and (c) breast and bottle-fed. These data were studied according to the data recorded at the 6-week infant health checkup. The age of the child at their first eczematous diagnosis was then calculated in accordance with their date of birth. Result New eczema diagnosis showed a similar trend in ‘breast-fed’ babies; however, onset of eczema was significantly delayed in the ‘breast and bottle-fed’ group when compared with bottle-fed alone. Most bottle-fed babies (58% of patients) were diagnosed at 31–60 days, whereas most ‘breast and bottle-fed’ babies (56%) were diagnosed at 91–120 days (P≥0.0001). Conclusion Babies from the two groups (‘breast’ and ‘breast and bottle-fed’) experienced a delayed onset of their eczema compare with ‘bottle-fed’ infant group. Breastfeeding can delay the onset of atopic dermatitis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Introduction Alopecia areata (AA) is a relatively common reversible patchy hair loss of the scalp. It is usually manifested as patchy areas of complete hair loss on the scalp and sometimes with or without other body parts that can progress to complete loss of all body hair. This disorder affects all age groups, with a higher incidence in children and adolescents. AA is an autoimmune disorder characterized by hair cycle dysfunction with peribulbar and perifollicular mononuclear cell infiltrates. Aim To estimate interleukin-17A (IL-17A) serum level in patients with AA as well as study its relationship with the age of the patients, severity, and recurrence of disease. Patients and method s The study was carried out in Outpatient Clinic of Dermatology, Venerology, and Andrology Department, Zagazig University Hospitals, on 45 patients with AA of both sexes. Results were compared with 45 healthy participants with matched age (5–50 years). Results The present study included two groups: patient group included 45 patients diagnosed clinically with AA and control group included 45 age-matched and sex-matched healthy individuals. Conclusion The significantly higher levels of serum IL-17A in patients with AA suggest a possible role of IL-17A as a proinflammatory cytokine in the pathogenesis of AA and that IL-17A level may be influenced by age and disease recurrence in patients with AA.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Aim Inthe literature, studies investigating the effects of isotretinoin on spermatogenesis are controversial and there is no consensus. In this study, the aim was to investigate whether isotretinoin has any effects on spermatogenesis and, if present, whether these effects are dose linked or not. Materials and methods Twenty-two rats were divided into four groups. The first group (n=5) was administered 7.5 mg/kg/day and the second group (n=5) was administered 30 mg/kg/day isotretinoin dissolved in sunflower oil orally for 4 weeks. Group 3, the sham group (n=6), was administered only sunflower oil. Group 4 was the control group and was administered standard feed and water. At the end of the fourth week, all rats were killed and histologic investigation was performed. Sperm motility, sperm count, sperm vitality, seminiferous tubule diameters, germinal epithelium thickness, and apoptotic indices were assessed. Follicle-stimulating hormone, luteinizing hormone (LH), and testosterone levels were measured in serum. Results There was a significant degree of reduction in sperm motility, sperm viability, seminiferous tubule diameters, and germinal epithelium thickness in the first and second groups compared with the control group. Sperm count was found to be significantly reduced in the second group compared with the other groups. Follicle-stimulating hormone and luteinizing hormone values were not observed to change in all groups. Conclusion This study concluded that both high-dose and low-dose isotretinoin disrupted spermatogenesis; however, it did not affect the hypothalamic–pituitary–gonadal axis.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background Psoriasis is a Th1/Th17 disease resulting from a dysregulated interplay between keratinocytes and immune cells, leading to skin hyperproliferation. Increased levels of interleukin (IL)-33 were reported in various Th1/Th17-driven autoimmune diseases, such as rheumatoid arthritis and inflammatory bowel disease, with correlation to disease severity. Increased levels of IL-33 have been reported in lesional skin of psoriatic patients. The authors hypothesized that keratinocyte-released IL-33 might play a role in psoriasis pathogenesis; thus, inhibiting IL-33 activity might be a breaking new therapeutic strategy in its treatment. Patients and methods Serum IL-33 levels were measured by an enzyme-linked immunosorbent assay for 30 patients with active psoriasis (group A), 30 patient with stable psoriasis (group B), and 30 healthy age-matched and sex-matched controls (group C). Results Serum IL-33 showed statistically significant higher mean value among patients with psoriasis compared with the control group. The level of IL-33 in active psoriasis was significantly higher than in inactive psoriasis. Moreover, there was a statistically significant correlation between IL-33 and psoriasis area and severity index (PASI) score. Receiver operating characteristics curve detected the validity of serum IL-33 in differentiating patients with psoriasis from controls. At the cutoff point of IL-33 as 22.72 pg//ml, psoriasis could be predicted with 96.67% sensitivity and 93.33% specificity. Serum IL-33 was a statistically significant predictor of PASI score, with 63.5% of PASI scores predicted by serum IL-33. Conclusion Serum IL-33 may represent a new marker for psoriasis diagnosis as well as a predictor of the disease severity.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Aim To present real world data for the treatment of palmoplantar psoriasis with Apremilast. Objectives To study the efficacy and safety of apremilast in palmo-plantar psoriasis. Background Palmoplantar psoriasis (PPP) is a disabling condition that is refractory to treatment. Apremilast an approved oral PDE4 inhibitor was used as a twice daily dose to treat our patients. Methods 30 patients of PPP were administered apremilast tablets, along with mid potent topical steroids and emollient cream. 23 patients completed the study. Results The primary end point was the assessment of clinical response in patients achieving Palmoplantar Physicians Global Assessment 0/1 (ppPGA) at 16 weeks which was seen in 34.7% patients. Secondary end points were assessed as follows: Change in mean ppPGA from baseline to week 24, ppPGA 0/1 was seen in 48.7% patients, three patients who continued long term therapy maintained ppPGA 0/1 and adverse events (AE) reported during the course of the therapy were seen in 26% of the patients. Conclusions Apremilast is a fairly effective and safe drug for the management of PPP. It is capable of not only inducing clinically meaningful responses but also keeping PPP under control in the long run.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

The Stevens-Johnson syndrome (SJS) and the drug rash with eosinophilia and systemic symptoms (DRESS) are part of a spectrum of severe adverse cutaneous drug reactions. It is prudent to differentiate between the two syndromes, as the management and prognosis are different. Carbamazepine is one of the common culprit drugs for both SJS and DRESS. This case study is of a 45-year-old Indonesian women who developed atypical presentation of SJS following carbamazepine therapy. However, it is essential to distinguish between the SJS and DRESS. Moreover, carbamazepine-induced SJS is strongly linked to specific human leukocyte antigen alleles in the South Asian people. Henceforth, this case emphasizes the importance of differentiating SJS from DRESS and substantiates other studies that strongly recommend testing for human leukocyte antigen alleles before initiating carbamazepine in a susceptible population.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background Disturbed lipid metabolism may play a role in psoriasis pathogenesis. Relationship between lipids and acne has been studied, and significant dyslipidemic findings were reported. In androgenetic alopecia (AGA), the role of androgens is not fully established, and nonandrogenic mechanisms may be involved. Objective The aim was to study lipid profile in patients with psoriasis, acne, and AGA and its relation to severity for a possible role in the etiopathogenesis of these diseases. Materials and methods The study included 25 patients with psoriasis, where the severity of psoriasis was evaluated by psoriasis area and severity index score; 25 patients with acne, where the severity of acne was evaluated by Global Acne Grading System; 25 patients with AGA, who were evaluated by the Norwood-Hamilton scale for males and Ludwig scale for females; and 25 healthy controls. Detailed history, clinical examination, BMI, and laboratory estimation of serum lipids (cholesterol, triglycerides, low-density lipoprotein-cholesterol, and high-density lipoprotein-cholesterol) were performed for all paricipants. Results There was a significant increase in low-density lipoprotein in each of psoriasis, acne, and AGA groups as compared with controls (P<0.05). Cholesterol and triglycerides were significantly higher only in psoriasis compared with controls (P<0.05). High-density lipoprotein was significantly lower in patients with psoriasis, acne, and AGA in comparison with controls (P<0.05), and it was negatively related to severity in psoriasis and acne. Conclusion Psoriasis, acne, and AGA are associated with atherogenic lipid profile, being more prominent in psoriasis and not related to known atherosclerotic risk factors except obesity. Patients with psoriasis and less likely acne and AGA may be at risk of atherosclerosis and consequently cardiovascular disease (CVD).

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Rituximab is a monoclonal antibody directed against CD20 antigens in B lymphocytes, producing selective depletion of B cells, now considered as Ist line in management of Pemphigus vulgaris. Current guideline has no consensus views on when or at what clinical severity the third dose of rituximab can be administered. Few studies, have highlighted the role of anti- desmoglein 1 & 3 antibodies (anti-dsg 1&3 Ab) and CD19 as immunobiological markers in prognosticating the relapse, remission and severity of pemphigus vulgaris. We report five cases of pemphigus treated with third dosage of rituximab 500 mg taking account of clinical symptoms, level of anti-dsg 1&3 Ab and CD19.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]