Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.

The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.

Molecular studies of ichthyosis vulgaris in Pakistani families.

OBJECTIVE: To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris. STUDY DESIGN: A case series. PLACE AND DURATION OF STUDY: Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre (JPMC), Karachi, from October 2007 to December 2008. METHODOLOGY: Clinically examined seven ichthyosis vulgaris families were included in this study. The 1.5 kb FLG gene fragment was located in the genomic DNA of both the affected (patients) and unaffected (normal, controls) members of the families by PCR amplification using known primers FilF3 and RPTIP6. RESULTS: Amplification of 1.5 kb FLG gene fragment was successful in four families while one family showed amplification of the gene fragment in 3 members (one affected and two normal). Two families showed no amplification. CONCLUSION: The results obtained during this study suggested the possibility of the R501X mutation as being one of the major causes of ichthyosis vulgaris in Pakistan. In addition, the study also revealed the possibility of the presence of novel FLG gene mutations in our population.

Association of lichen planus with hepatitis C virus infection.

BACKGROUND: An association between HCV infection and lichen planus is uncertain because the prevalence of HCV infection in patients with lichen planus varies considerably from one geographic area to another. The purpose of this study was to determine the frequency of anti-HCV antibodies and its association with various clinical types of lichen planus in Mekkah, Saudi Arabia. METHODS: A total of 114 cases of lichen planus were selected for the study. These were divided into four categories, including patients with skin lesions, skin and oral lesions, and oral or genital lesions alone. The sera of these patients were tested for HCV antibodies by means of a third-generation ELISA and serum levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were simultaneously determined. A group of 65 volunteers served as a control group. RESULTS: Of the 114 patients with lichen planus, 30 had HCV antibodies (26.3%). In the 65 control group subjects anti-HCV antibodies were observed in 3 volunteers (4.6%). There was a significant difference between the two groups (P<0.0001). The ALT was raised in 22 patients and the AST level was elevated in 14 of the 114 cases of lichen planus. In the control group, the AST level was raised in 3 of the 65 controls while 2 had an elevated ALT level. The number of patients with an abnormal transaminase level also significantly differed in the two groups. CONCLUSION: A high prevalence of HCV infection was detected in patients with lichen planus. These results support a possible relationship between lichen planus and hepatitis C.

Dermatophyte growth and degradation of human stratum corneum in vitro (pathogenesis of dermatophytosis).

BACKGROUND: This study was carried out to determine growth of dermatophytes using human stratum corneum in vitro and the degrading effect of Keratinases (Proteinases) on stratum corneum for a complete understanding of the host parasite relationship. METHOD: Trichophyton rubrum isolates derived from patients with tinea cruris infections were obtained from the Department of Medical Microbiology, University Hospital of Wales, U.K. Human stratum corneum sterilized with ethylene oxide was used as a nitrogen source in agar culture medium plates. RESULT: Fungal growth took place in plates which contained human stratum corneum particles while there was no growth in the plates without stratum corneum at three weeks after initiation. There was a gradual disappearance of the particles of stratum corneum from the plates at the end of the third week CONCLUSION: The growth of organisms in plates with human stratum corneum and their disappearance at third week suggested that stratum corneum was not only source of nutrition for the dermatophytes, but also the growing fungal mycelia and the proteinases induced by them were playing a part in the digestion of granules and thus may have an important role in the pathogenesis of dermatophyte infections.

Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome).

Autosomal recessive ectodermal dysplasia with acanthosis nigricans is termed Lelis' syndrome. It is a rare condition and one case is described with overall clinical, dermatological and dental findings.

Spectrum of skin disorders presenting to King Abdul Aziz Hospital during Hajj season-2000.

BACKGROUND: The pilgrimage (Hajj) to the holy mosque in the city of Makkah takes place once every year and during this huge gathering skin diseases are quite common due to hot weather and over crowding. The aim of this study was to collect and report data regarding different dermatological problems occurring during the holy month of Zil-hajj. METHODS: Data regarding skin diseases was collected from pilgrims which were examined and diagnosed clinically at the Department of Dermatology King Abdul Aziz Hospital, during the month of Zil-Hajja of the year 2000. These patients were referred from various primary health centers, medical hajj missions of various countries and Children and Maternity hospital in Makkah. RESULTS: During the month of Zil-hajja of the year 2000, 1510 cases were seen, of these 1143 were males and 367 were females. The criteria for diagnosis for most of the cases were mainly clinical. The highest number of patients was in the age group of 20-50 years. Eczemas of different types were the most common skin disease observed in these pilgrims, intertrigo was the next most common presenting condition this was followed by fungal and bacterial infections. CONCLUSION: A high frequency of skin diseases such as eczemas, intertrigo, pyoderma and fungal infections was found among the pilgrims. More detailed studies regarding skin conditions during this season would enable us to have better understanding of skin problems there management and prevention in full.