Detection of filaggrin gene mutation [2282 del4] 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

Study to assess the effect of topical clindamycin gel in acne vulgaris

Acne vulgaris is very common and all individuals of either sex suffer from this ailment at adolescent. The areas involved are cheeks, nose fore head, sometimes back also. Number of treatment options are available but clindamycin gel as topical preparation has been found effective. To find the suitability of clindamycin topically used. Study was performed on 40 patients of either sex, age group 14-29 years they were instructed to apply clindamycin topically twice daily up to three months. The results were significant at the end of treatment. The results were discussed with other studies. Clindamycin topical in the form of gel is suitable and effective for treatment of acne

Molecular studies of ichthyosis vulgaris in Pakistani families

To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris. A case series. Centre for Molecular Genetics, University of Karachi and Dermatology Department, Jinnah Postgraduate Medical Centre [JPMC], Karachi, from October 2007 to December 2008. 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. 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. 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

unique albino village of bhatti tribe in rural Sindh, Pakistan, with oculocutaneous albinism manifestations: an epidemiological study

Oculocutaneous albinism is a disease with an autosomal recessive inheritance pattern in most cases. People with Oculocutaneous albinism face many health, psychological and financial issues. In this study, we report a unique village of Bhatti tribe in Jacobabad District, Pakistan, in which 40 children and adults with albinism live. The aim of this study was to observe the pattern of inheritance, complications and socioeconomic impacts of this condition on the community. Detailed clinical history and relevant data were recorded on a specially designed performa followed by clinical examination by a consultant dermatologist together with his team to observe the extent of the disease and associated complications in two seasons [winter and summer]. This village, with a total population of 810, had 40 cases, 17 male and 23 female, ranging in age from 6 months to 35 years. About 65% of the affected individuals were younger than 16 years of age. There were 22 involved families in this village and 2 of them had 3 or 4 affected members. In this area, which is geographically close to the equator, all 40 cases [100%] had photodermatosis and 36/40 cases [90%] had bacterial skin infections during summer. In addition, they had limited outdoor exposure during this season. These complications also caused occupational, social and educational limitations 9 months a year. Eye problems were present in all 40 cases; however, all 40 cases were malignancy free. Oculocutaneous albinism is challenging not only because of its management but also because of its social and financial impacts. The current trend of consanguineous marriages, prevalent in this village, puts further emphasis on the role and the importance of marriage counseling in such situations

Association of lichen planus with hepatitis C virus infection

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. 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. 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. 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

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

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. 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. 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. 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

Ectodermal dysplasia with acanthosis nigricans [Lelis' syndrome]

A 32-year-old Saudi male was referred with a long-standing history of abnormal hair of the scalp, dystrophic nails and dry skin with palmoplantar hyperkeratosis. He had a twin brother with similar but milder manifestations on clinical examination who refused to be photographed. The parents were not related to each other but belonged to the same tribe. General physical examination showed a normal height and weight, low-set ears, and narrow face with prominent forehead and lips. He had saddle nose with an increased nose width. Cutaneous examination revealed dry, hypochromic wrinkled skin with thick lips. The scalp hairs were sparse, dry and lusterless, beard and pubic hairs were also scanty. There was hyperkeratosis of the skin of the hands and feet. The patient also had acanthosis nigricans in the axillary region. Nails were thick, yellow in color, dystrophic and hyper convex. Oral examination revealed hypodontia with peg-shaped anterior teeth. The patient reported fragile temporary teeth with early loss. There was delayed neurological development and the patient had mild mental retardation. Investigations including blood counts, chemistry, thyroid studies, testosterone and estradiol were all within normal limits. Chromosomal analysis on peripheral blood lymphocytes with G'banding technique showed a normal male constituency. Skeletal survey and examination of the hair from the scalp under the light microscope were normal. Skin from the palm was taken for histopathology which showed reduction in number of eccrine sweat glands, sebaceous glands and hair follicles, also the epidermis was thin and flattened. Biopsy taken from the axilla revealed acanthosis nigricans