Missense, silent, non-sense and frame-shift mutations in exon 3 of the filaggrin gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy.

This study investigated the atopic march on the basis of genetics. This research detected 227 variants in the filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were detected in exon 3 of the FLG gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy. Missense mutation was detected at c.8343 G > C (p. Asp2781Glu) in all adult asthmatic and allergic rhinitis patients. Whereas, mutation at c.8360 C > T/A (p. Arg2787 His/Leu) was detected in all childhood asthmatic and mixed atopic patients. A non-coding mutation was detected at c.12365 in atopic dermatitis and bronchial asthma patients. Furthermore, DNA sequencing of asthmatic and mixed atopic patients showed missense mutations at c.6073 C > T (p. Gly2025Glu) and a silent mutation at c. 8341 G > A (p. Asp2781Asp).

Manifestations of ocular rosacea in females with dark skin types.

BACKGROUND: Current knowledge about ocular rosacea in dark skin individuals is lacking. The prevalence of ocular rosacea varies considerably among studies and is probably higher than previously presumed. OBJECTIVE: To estimate the prevalence and pattern of ocular rosacea among dark skinned female patients, compare it with fair skinned, and to correlate the severity of cutaneous disease with ocular findings. METHOD: Female patients diagnosed with rosacea between 2011 and 2013 were studied prospectively. They were referred to ophthalmology for clinical observations and slit lamp examination. In all patients Schirmer and Tear break up time tests to diagnose dry eye were performed. RESULT: Fifty six consecutive female patients, joined the study with different skin types ranging from skin type 4 to 6. A total of 43 patients (76.8%) were positive for ophthalmologic findings. The most frequent symptoms were itching, burning sensation and redness, while the most frequent signs were meibomian gland dysfunction, dry eyes, eyelid telangiectasia and irregular margin. Significant correlation was noted between meibomian gland dysfunction and irregular lid margin (P = 0.003). Dry eye and Schirmer test significantly correlated with eye lid telangiectasia (p = 0.004; 0.015) respectively. No significant correlation was found between the severity of cutaneous disease and ocular findings. CONCLUSION: Ocular rosacea in dark skinned females is a common presentation and is comparable to that reported for fair skin, with eyelid telangiectasia and meibomian gland dysfunction being early phenomena. Earlier onset and more benign course were seen compared to other studies. Ocular and cutaneous rosacea are independent of each other.

Association of psychological stress with skin symptoms among medical students.

OBJECTIVES: To evaluate the association between psychological stress and skin symptoms among medical students.  Methods: A cross-sectional study was carried out between January and June 2015. Electronic survey consists of Perceived Stress Questionnaire (PSQ) and Self-Reported Skin Complaints Questionnaire were distributed to all 1435 undergraduate students at College of Medicine, King Saud University (KSU), Riyadh, Saudi Arabia. Results: Final analysis was performed on data from 529 (36.9%) students. Students were divided into three groups: least stressed students, n=135, PSQ index less than 0.39; highly stressed students, n=136, PSQ index greater than 0.61; and moderately stressed students, n=258. Older age, female gender, during exam weeks, and fourth and fifth years of medical school (all p less than 0.01) were associated with the highest perceived stress levels. When compared to least stressed students, highly stressed students suffered from more oily, waxy patches or flakes on scalp (p≤0.0001), dry/sore rash (p≤0.0001), warts (p≤0.0001), pimples (p≤0.0001), itchy skin (p≤0.0001), hands itchy rash (p≤0.0001), hair loss (p≤0.0001), pull-out own hair (p=0.008), scaly skin (p=0.012), troublesome sweating (p=0.016), nails biting (p=0.028), and other rashes on face (p= 0.028).  Conclusion: Various common skin conditions could appear in context of psychological stress among medical students.

Severe subtype of alopecia areata is highly associated with thyroid autoimmunity.

OBJECTIVES: To assess the significance of thyroid autoimmune screening in alopecia areata (AA) patients in Saudi population, and to determine whether there is a difference in thyroid autoimmune susceptibility between mild and severe AA. METHODS: In a prospective case-control study, we included 50 alopecia totalis (AT) and alopecia universalis (AU) patients, 50 age- and gender-matched patients with localized AA, and 50 age- and gender- matched healthy subjects between March 2015 and August 2015. Patients with AA were consecutively recruited from the hair disorders out-patient clinic of King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia. RESULTS: Thyroid autoantibodies (TAAs) were positive in AT/AU (40%), mild AA (14%), and healthy subjects (4%). The frequency of TAAs was significantly higher in patients with AT/AU than in mild AA (p=0.001) and healthy controls (p less than 0.001). The frequency of thyroid peroxidase antibody (TPO-Abs) was significantly higher in patients with AT/AU than in mild AA and healthy controls (p less than 0.001 for both). The frequency of TG-Abs was significantly higher in patients with AT/AU (p=0.003) and mild AA (p=0.043) than in healthy controls. Serum TSH level was significantly higher in AT/AU patients than in mild AA patients (p=0.006) and healthy controls (p=0.005). CONCLUSION: Severe subtype of AA is associated with a high risk of autoimmune thyroid disease. This highlights the significance of screening for thyroid abnormalities and TAAs in patients with AT/AU.

Factors affecting the severity of central centrifugal cicatricial alopecia.

BACKGROUND: Central centrifugal cicatricial alopecia (CCCA) is a type of scarring hair loss primarily seen in African-American women. The risk factors that affect the severity of disease remain unclear. OBJECTIVES: This study was designed to elucidate risk factors that may be associated with severity of CCCA. METHODS: A cross-sectional survey study was conducted. Women with biopsy-confirmed CCCA responded to a questionnaire and were grouped according to a photographic scale of central scalp alopecia. The severity of disease was considered: grade 1 and 2 disease was interpreted as early-stage CCCA, and grade 3-5 disease was interpreted as advanced-stage CCCA. Data from the questionnaire were compared with levels of severity to determine the strength of associations with severity of disease. RESULTS: A total of 38 women with biopsy-confirmed CCCA were recruited to participate in this study. Early-stage CCCA was seen in 22 subjects (57.9%), and advanced-stage CCCA was noted in 16 subjects (42.1%). The average duration of hair loss was 5.7 years in early-stage disease and 10.1 years in advanced-stage disease. There was a positive correlation between duration of hair loss and degree of hair loss (Spearman's correlation 0.471, P = 0.003). CONCLUSIONS: This study reports on data sourced from patients with biopsy-confirmed CCCA and examines the relationships between various factors and severity of CCCA. The findings demonstrate that duration of hair loss is positively associated with severity of disease and that androgen-related conditions are prevalent in those affected with CCCA.

Onychomycosis in qassim region of saudi arabia: a clinicoaetiologic correlation.

BACKGROUND: Onychomycosis is mainly caused by dermatophytes, but yeasts and nondermatophyte molds have also been implicated, giving rise to diverse clinical presentations. The aetiological agents of the disease may show geographic variation. AIM: The aim of the present study was to isolate the causative pathogens and to correlate the various clinical patterns of onychomycosis with causative pathogens. MATERIALS AND METHODS: The study population comprised 170 patients with clinical suspicion of onychomycosis. Nail samples were collected for direct microscopic examination and culture. Clinical patterns were noted and correlated with causative pathogens. RESULTS: Out of total 170 cases included in the study, 140 (82.4%) were positive by microscopy and 77 (45.3%) showed positive mycological findings by both microscopy and culture. The male: female ratio was 1:2.5 and the mean age was 35.29 ± 16.47 years. Fingernails were involved in 51.9%, toenails in 28.6% and both fingernails and toenails in 19.5% of the 77 patients. The clinical types noted were distal lateral subungual onychomycosis (71.4%), proximal subungual onychomycosis (10.4%), total dystrophic onychomycosis (10.4%), superficial white onychomycosis (3.9%) and mixed pattern onychomycosis (3.9%). Yeasts were the most common pathogens isolated, being found in 36 patients (46.8%) followed by nondermatophyte molds which were isolated from 28 patients (36.4%) followed by dermatophytes which were isolated from 13 patients (16.9%). CONCLUSION: Distal lateral subungual onychomycosis was the most common clinical presentation. Candida albicans, Aspergillus species and Tricophyton rubrum were the major pathogens. A single pathogen can give rise to more than one clinical type.

Quality of life in family members of vitiligo patients: a questionnaire study in Saudi Arabia.

BACKGROUND: Many dermatologic disorders are known to adversely affect quality of life (QoL) in close relatives or partners of patients; however, it is unknown whether vitiligo impacts the QoL of family members. OBJECTIVE: The aim of this study was to identify the level and domains in which the QoL of partners/relatives of patients with vitiligo are affected by the disease. METHODS: A total of 141 patients with vitiligo, along with their family members, were recruited to complete validated QoL questionnaires, including the Dermatology Life Quality Index (DLQI) and the Family Dermatology Life Quality Index (FDLQI). RESULTS: Family member QoL was affected in 129 (91.5 %) of subjects. Mean FDLQI score was 10.3 ± 6.4 standard deviation. Higher FDLQI score (greater impairment in QoL) was significantly associated with male patients, a shorter duration of disease, and higher educational levels in family members. The most affected FDLQI items in order of decreasing incidence were emotional impact, burden of care, impact on the physical well-being of the family member, problems due to the reaction of others in response to the patient's skin appearance and effect on social life. Overall FDLQI score and the number of items affected correlated with overall patient DLQI score (p < 0.001, r = 0.56 and p < 0.001, r = 0.53, respectively). CONCLUSIONS: Vitiligo has a major impact on the QoL of family members of patients and often significantly impairs many aspects of their lives. Educational and supportive programs are recommended for family members of vitiligo patients who are at an increased risk for QoL impairments.

Efficacy and safety of oral mega pulse methylprednisolone for severe therapy resistant Alopecia areata.

OBJECTIVE: To use intensive regimen of pulse steroid in the severe forms of Alopecia areata. METHODS: This prospective randomized study was conducted at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia between 2003 to 2009. Patients with Alopecia universalis, Alopecia totalis, or Alopecia ophiasis were assigned to one of the 3 treatment groups: Group A received oral mega pulse methylprednisolone (MP) for 3 consecutive days once every 2 weeks for 24 weeks; Group B received 2 consecutive daily pulses every 3 weeks; and Group C received 3 consecutive daily pulses every 3 weeks. Patients who showed regrowth of 75% or more at 24 or 36 weeks continued their treatment, while intervals were increased gradually. RESULTS: Forty-two patients were included in this study, and 52.4% of them had atopic diathesis, while 35.7% had autoimmune thyroiditis. At 36 weeks, 12 (28.6%) patients had adequate response, 9 (21.4%) had inadequate response, and 21 (50%) patients had poor response. The response rate shows no statistically significant difference between treatment groups. There were statistically significant differences in age of onset, duration of the disease, and presence of subclinical hypothyroidism between different response groups. At follow-up: 13 (38.2%) patients relapsed; 5 (14.7%) patients developed moderate hair fall; 3 (8.8%) patients developed mild hair fall; 7 (20.1%) patients maintained their hair regrowth; and 6 (17.6%) patients were lost follow up. It was relatively well-tolerated among groups B and C. CONCLUSION: Oral mega pulse MP use in severe forms of Alopecia areata has relative efficacy and tolerance but with high relapse rate.

The itchy scalp--scratching for an explanation.

Scalp pruritus is a common complaint that is considered a diagnostically and therapeutically challenging situation. Scalp skin has a unique neural structure that contains densely innervated hair follicles and dermal vasculature. In spite of the recent advances in our understanding of itch pathophysiology, scalp itching has not been studied as yet. In this review, we summarize the current knowledge on the neurobiology of scalp and hair follicles as well as itch mediators and provide a putative mechanism for scalp itch with special emphasis on neuroanatomy and pathophysiology.

The Dermatology workforce in Saudi Arabia: Current trends, challenges and future directions.

OBJECTIVES: To provide a snapshot of the dermatology work force in Saudi Arabia. METHODS: We collected data on the supply and distribution of dermatologists in Saudi Arabia. We discussed the current status of dermatology manpower issues in Saudi Arabia. RESULTS: We found that between 1987 and 2007, the availability of dermatologists to population in Saudi Arabia rose by 60 %, from 2.35 to 3.76 dermatologists per 100,000 Saudi Arabian individuals. However, the current workforce is already out of balance in several ways. We have an excess of non-Saudi citizen dermatologists and a barely adequate supply of Saudi dermatologists. The dermatologist population is unbalanced with regard to gender and uneven in terms of geographic distribution. CONCLUSIONS: The dermatology workforce does not match well with the nation's health care goals. We should create a more successful and stable match between the talent supply and health care system requirements.

Oral mega pulse methylprednisolone in alopecia universalis.

Intravenous pulse corticosteroids is an alternative method of corticosteroids delivery, which proved to be safe with rapid and potent efficacy. It is an effective treatment of alopecia areata, but not for the totalis, universalis or ophiasis types, for which no effective therapy is available yet. Recently, it has been confirmed that oral and intravenous pulse methylprednisolone MP have comparable efficacy. Here, we report a 9-year-old Saudi boy with alopecia universalis who was treated with MP sodium succinate 15 mg/kg ideal body weight orally for 3 consecutive days bimonthly for 12 sessions. Complete hair regrowth was obtained without toxic effects. When the interval was increased to 4 weeks, he showed partial relapse. So, 2 more pulses were given with an interval of 3 weeks in between. This maintained his regrown hair for a year without treatment.