Association analysis of GWAS and candidate gene loci in a Pakistani population with psoriasis.

Psoriasis is a common inflammatory and hyper proliferative condition of the skin and a serious chronic systemic autoimmune disease. We undertook an association study to investigate the genetic etiology of psoriasis in a Pakistani population by genotyping single-nucleotide polymorphisms (SNPs) previously reported to be associated in genome-wide association (GWAS) or in candidate gene studies of psoriasis. Fifty seven single-nucleotide polymorphisms (SNPs) from 42 loci were genotyped in 533 psoriasis patients and 373 controls. Our results showed genome wide significant association of the MHC region (rs1265181 being the most significant from five SNPs used with overall OR=3.38; p=2.97E-18), as well as nominally significant associations at ten other loci (p<0.05) in the Pakistani population (LCE3B, REL, IL13/IL4, TNIP1, IL12B, TRAF3IP2, ZC3H12C, NOS2 and RNF114 from GWAS and PRR9 from a previous candidate gene study). Overall, only nine SNPs out of the 42 GWAS loci, displayed an odds ratio in the opposite allelic direction and only three did not reach similar odds ratio within 95% confidence interval as previously reported (SLC45A1/TNFRSF9, ELMO1 and IL28RA). This indicates similar genetic risk factors and molecular mechanisms behind disease in Pakistani psoriasis patients as in other populations. In addition, we show that the MHC and TNIP1 regions are significantly different in patients with psoriasis onset before the age of 40 (type I) compared to after 40 years of age (type II). MHC being associated mainly with type I while TNIP1 with type II patients.

Unilateral Blaschkoid lichen planus involving the entire half of the body, a unique presentation.

A large number of congenital as well as acquired skin disorders assume a characteristic morphological pattern following the Blaschko lines. Lichen planus (LP) is an acquired inflammatory disorder that can come with different faces. Linear lesions are frequently seen but cases of zonal (zosteriform) or whorled appearance have rarely been described in the literature. We describe an even rarer presentation in a 30-years-old man who had unilateral pruritic violaceous lesions over right half of body characteristically following lines of Blaschko with clinical and histological morphology typical of LP.

Correlation of clinical, histopathological, and microbiological findings in 60 cases of cutaneous leishmaniasis.

BACKGROUND: In an endemic area, cutaneous leishmaniasis (CL) is largely diagnosed by its clinical appearance. Diagnostic challenge arises when the lesions appear in nonendemic area, when clinical picture is distorted, or any atypical variant is seen even in endemic regious. In developing countries like ours, the laboratory aid is not widely available and dermatologists mostly have to rely on clinical experience. AIM: The study was aimed to see the correlation of clinical, histological, and microbiological findings in clinically diagnosed cases of CL. METHODS: It was an observational and descriptive study and was conducted over a period of 2 years in two dermatology centers in the country. Seventy-seven patients with clinically suspicious lesions of CL were screened and 60 of these were diagnosed as true clinical cases on the basis of criteria for clinical diagnosis. These cases were then subjected to slit skin smear and histopathological examination. Parasitologically positive and suggestive cases were recorded and descriptive statistics were used to evaluate the findings. RESULTS: Out of 60 registered cases, 36 (60%) were smear-positive and 30 (50%) demonstrated Leishman Donovan (LD) bodies in histological sections. Twenty-six of the remaining (parasite-negative) cases showed one of the recognizable histological patterns seen in CL, 3 did not reveal any suggestive histology but responded to antimonial compound, and 1 turned out to be a case of deep mycosis. CONCLUSION: Considering the magnitude of the problem and limited resources of a developing country like ours, clinical diagnosis alone may be reliable enough in endemic areas.

Cellular immune host response in acute cutaneous leishmaniasis.

OBJECTIVE: To evaluate cellular immune host response in various patterns of acute cutaneous leishmaniasis. DESIGN: It was a cross-sectional and comparative study. PLACE AND DURATION OF STUDY: The Armed Forces Institute of Pathology (AFIP) and Military Hospital (MH), Rawalpindi from 1996 to 1999. PATIENTS AND METHODS: Forty biopsies of active skin lesions after processing were studied for various immunophenotype cells by using monoclonal antibodies. Total as well as differential T cell counts were recorded in acute single, acute multiple and sporotrichoid lesions and in normal skin tissues. Non parametric Kruskal-Wallis Test for one way ANOVA was used to compare cell counts in these groups and p-value <0.05 was considered significant. RESULTS: No significant difference was seen in the histopathology, type of infiltrate and the ratio between the immune competent cells in acute single or multiple lesions. The results of analysis of total cell count, CD3+ cells and CD57+ (NK) cells were statistically different (p=<0.05 to p=<0.001) between acute forms of the disease and normal tissue but no difference was seen when acute forms were compared with each other. However, CD4+, CD8+ and CD19+(Plasma cells) counts difference was significant (p=<0.05 to p=<0.01), when sporotrichoid lesions were compared with other acute lesions (single and multiple). CONCLUSION: The sporotrichoid variant of cutaneous leishmaniasis may be due to a different parasite species, which provokes a different cellular immune response.

Lupus tumidus: a variant of cutaneous lupus erythematosus.

Lupus tumidus is a rare sub-type of chronic cutaneous lupus erythematosus characterized by dermal plaques in which excessive mucin accumulates early in disease process. We report a middle aged women having succulent, edematous and persistent plaque over her face for five years that was not responding to various empirical treatments offered to her. Finally, on clinico-pathological basis, it was diagnosed as a case of tumid lupus erythematosus (TLE) and she responded satisfactorily to the treatment regimen including oral steroids, chloroquine and application of sun screen.

Neurofibromatosis and Caroli's disease: an extremely rare association.

Neurofibromatosis type-1 (NF-1) is a rare genetic disorder with an extremely variable phenotype. A broad spectrum of associations have also been reported with it. We present a florid case of NF, presenting with unusual symptoms, which was found to have an associated Caroli's disease, a rare congenital disorder of the intrahepatic bile ducts. The case is reported along with a brief review of both the disorders.