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

Pregnancy dermatoses: A three-year study

Objective: To determine the percentage occurrence, clinical features and the age distribution of pregnancy-related dermatoses in pregnant females who were referred from Maternity Hospital Makkah to dermatology department for management at King Abdul Aziz Hospital, Makkah, Saudi-Arabia. Methods: Patients who attended the dermatology clinic at King Abdul Aziz Hospital, Makkah were examined clinically and appropriate laboratory evaluation was done to facilitate diagnosis. These cases were managed till the termination of pregnancy and 10 weeks follow up in the puerperium. This study lasted for a period of 03 calendar years. Results: A total of 47 females were seen, with polymorphic eruption (PEP) being the most common (38.29%) of the pregnancy-related dermatoses followed by intra-hepatic cholestasis of pregnancy (25.53%), pemphigoid gestationis (19.14%), prurigo of pregnancy (8.51%), pruritic folliculitis (4.25%) and impetigo herpetiformis (4.25%). The age group most affected by these disorders was 21-30 years (42.55%), followed by 31-40 years (38.29%), \u3c 20years(12.76%) and \u3e 40 (6.38%). Conclusion: Certain dermatoses are specifically seen in pregnancy or postpartum period. It is therefore important for the clinicians to recognize and treat these cutaneous disorders to minimize maternal and fetal morbidity

Cutaneous manifestations of hyper-IgE syndrome in twins: a case report from Saudi Arabia.

The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency disorder characterized by very high levels of IgE in serum. It is inherited in most of the cases in a dominant fashion meaning that it can run in families with a high frequency. About 250 cases have been published in literature so far

Menke\u27s kinky hair syndrome--a rare medical condition.

The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke\u27s disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months

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

The effect of proteinases (keratinases) in the pathogenesis of dermatophyte infection using Scanning Electron Microscope

Objective: To study the inter-relationship between the stratum corneum of host and the fungal microorganisms using scanning electron microscopy for a complete understanding of the host parasite relationship. Setting: The patients attended the outpatients of Department of Dermatology, King Abdul Aziz Hospital Makkah. The isolation & identification was carried out at the Department of Mycology University Hospital of Wales, Cardiff, U.K. Material and Methods: Skin surface biopsies were obtained from two patients suffering from tinea cruris infection. One patient was infected with Trichophyton rubrum and the other with Epidermophyton floccosum strains. Results: The scanning electron microphotographs obtained from two patients showed a large number of villi in the infected area. The fungal hyphae were seen to be placed intercellularly as well seem to be transversing through the corneocytes in many places. Conclusion: From the results observed in this study it could be suggested that the secretion of proteinases from the fungal hyphae together with the mechanical force of the invading organisms in vivo might be playing part in the invasion of the organisms

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

SLC11A1 polymorphisms and host susceptibility to cutaneous leishmaniasis in Pakistan.

Background:The vector-borne cutaneous leishmaniasis (CL) is endemic in several regions of Pakistan mainly affecting poor populations. Host genetic factors, particularly SLC11A1 (solute carrier transmembrane protein) within macrophages, play a crucial role in disease pathology and susceptibility. Association of SLC11A1 with cutaneous leishmaniasis, a neglected tropical disease, is not well established. Inconsistencies have been observed within different populations worldwide with respect to genetic susceptibility. This study was designed to investigate genetic variation(s) in SLC11A1 and to assess possible association with cutaneous leishmaniasis in Pakistan. Results: Eight polymorphisms (rs2276631, rs3731864, rs2290708, rs2695342, rs201565523, rs17215556, rs17235409, rs17235416) were genotyped across SLC11A1 in 274 patients and 119 healthy controls. Six polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. Two single nucleotide polymorphisms were analyzed with newly designed semi-nested PCR assays. Case-control analysis showed no association between selected polymorphisms in SLC11A1 and cutaneous leishmaniasis. No significant difference was observed in the distribution of alleles between leishmaniasis patients and healthy individuals. Strong pairwise linkage disequilibrium was observed between rs2276631 and rs2290708 (r 2 = 64); and rs17235409 and rs17235416 (r 2 = 78). Conclusions: This study shows that genetic variations in the candidate gene SLC11A1 do not affect susceptibility to cutaneous leishmaniasis in the sample population from Pakistan