Bela Shah

The ACE gene I/ D polymorphism is not associated with generalized vitiligo susceptibility in Gujarat population.

Dear Sir, Vitiligo is a hypomelanotic disease characterized by circumscribed depigmented macules and affects 0.5–2% of the world population (Passeron and Ortonne, 2005). However, in India Gujarat has the highest prevalence i.e., approximately 8.8% (Valia and Dutta, 1996). Vitiligo is hypothesized to be of autoimmune origin and genetic factors may also involve in precipitating this disease. Our earlier study suggests that 13.7% of Gujarat vitiliginous patients have at least one firstdegree relative affected (Shajil et al., 2006). Angiotensin-converting enzyme (ACE), a key enzyme in the renin–angiotensin system, plays an important role in the physiology of the vasculature, blood pressure and inflammation. ACE has also been found to be associated with several autoimmune disorders (Scholzen et al., 2003; Vuk-Pavlovic and Rohrbach, 1988). The ACE gene is located on chromosome 17q23.3 and an insertion ⁄ deletion (I ⁄ D) polymorphism of a 287-base pair repetitive sequence in intron 16 of the ACE gene (NCBI: AF118569; repeat region 14094–14381) is reported to be associated with the development of vitiligo (Jin et al., 2004). The I ⁄ D polymorphism of the ACE gene accounts for the variability of serum ACE activity, D ⁄ D genotype having the highest and I ⁄ I genotype having the lowest ACE activity (Rigat et al., 1990). The aim of this study was to investigate the distribution of ACE I ⁄ D genotypes in generalized vitiligo patients and in healthy controls of Gujarat population to find the relationship between ACE I ⁄ D polymorphism and vitiligo. A total of 125 generalized vitiligo patients and 156 ethnically matched healthy controls of Gujarat population were examined for ACE I ⁄ D polymorphism. The patients selected for this study had no other associated diseases. The DNA was prepared from blood samples after written informed consent was obtained. Oligonucleotide primers used for ACE intron 16 PCR amplification were 5¢-CTGGAGACCACTCCCATCCTTTCT 3¢-(forward primer) and 5¢-GATGTGGCCATCACATTCGTCAGAT 3¢ (reverse primer). PCR amplification was performed in 25 ll reaction system containing 50 ng of genomic DNA and 20 pmol of each primer under the following conditions: 94 C for 10 min, 94 C for 30 s, 58 C for 1 min, 72 C for 1 min and final extension at 72 C for 10 min. Amplified PCR products were analyzed on 2% agarose gel electrophoresis with 100 bp DNA ladder to identify the three genotype patterns: I ⁄ I (a 480 bp fragment), D ⁄ D (a 193 bp fragment) and I ⁄ D (two fragments, i.e., 480 and 193 bp). The distribution of the ACE I ⁄ D genotypes for patients and control subjects were compared by using the chi-square test with 2 · 2 and 3 · 2 contingency tables and P-values less than 0.05 were considered statistically significant. The statistical power of the current study was determined by using the G * Power software (Faul et al., 2007). The observed allele and genotype frequencies for the ACE I ⁄ D polymorphism in controls and patient population are shown in Table 1. No significant difference in the genotype frequencies of I ⁄ I, I ⁄ D and D ⁄ D genotypes was observed between vitiligo patients and control subjects (P = 0.459) (Table 1), suggesting that there is no association of the ACE I ⁄ D polymorphism with vitiligo. The observed ACE allele frequencies for I and D alleles were 0.56 and 0.44 in controls; and 0.61 and 0.39 in vitiligo patients, respectively (Table 1). The allele frequencies of ACE I ⁄ D polymorphism did not differ significantly between the controls and patient population (P = 0.252) (Table 1). The observed genotype frequencies of the vitiligo patients did not show significant difference as predicted by the Hardy–Weinberg equation (P < 0.964). Also the control population did not deviate from Hardy– Weinberg equilibrium (P < 0.905). This study has 86% statistical power for the effect size 0.2 to detect

A study of autologous melanocyte transfer in treatment of stable vitiligo

BACKGROUND Replenishing melanocytes selectively in vitiliginous macules by autologous melanocytes is a promising treatment. With expertise in culturing melanocytes, it has now become possible to treat larger recipient areas with smaller skin samples. AIM To study the extent of repigmentation after autologous melanocyte transplantation in patients with stable vitiligo. METHODS The melanocytes were harvested as an autologous melanocyte rich cell suspension from a donor split thickness graft. Melanocyte culture was performed in selected cases where the melanocyte cell count was insufficient to meet the requirement of the recipient area. These cells were then transplanted to the recipient area that had been superficially dermabraded. RESULTS An excellent response was seen in 52.17% cases with the autologous melanocyte rich cell suspension (AMRCS) technique and in 50% with the melanocyte culture (MC) technique. CONCLUSION Autologous melanocyte transplantation can be an effective form of surgical treatment in stable but recalcitrant lesions of vitiligo.

Involvement of interferon-gamma genetic variants and intercellular adhesion molecule-1 in onset and progression of generalized vitiligo.

Interferon-gamma (IFN-γ) is a paracrine inhibitor of melanocytes and genetic variability due to intron 1 polymorphisms in IFNG has been reported to be associated with increased risk for several autoimmune diseases. The aim of present study was to determine whether intron 1 +874A/T (rs2430561) and CA microsatellite (rs3138557) polymorphisms in IFNG are associated with generalized vitiligo (GV) susceptibility and expression of IFNG and intercellular adhesion molecule-1 (ICAM1) affects the disease onset and progression. Here we report that IFNG CA microsatellite but not +874A/T may be a genetic risk factor for GV; however, +874T allele plays a crucial role in increased expression of IFNG mRNA and protein levels which could affect the onset and progression of the disease. Active GV patients showed increased IFNG levels compared to stable GV patients. The genotype-phenotype analysis revealed that IFNG expression levels were higher in patients with +874 TT genotypes and 12 CA repeats. Patients with the early age of onset showed higher IFNG expression and female GV patients showed higher IFNG and ICAM1 expression implicating gender biasness and involvement of IFN-γ in early onset of the disease. Moreover, the increased IFN-γ levels in patients lead to increased ICAM1 expression, which could be a probable link between cytokines and T-cell involvement in pathogenesis of GV.

Knowledge, attitude and practice of immunization in an urban educated population

A KAP evaluation of urban educated parents revealed suboptimal, superficial transfer of immunization knowledge. Poorer dose-related knowledge as compared to vaccine awareness contributed to partial immunization. Non-availability of vaccine contributed to 18.7% unprotected children, and therefore all logistics must be overcome to remedy service default. The unacceptable level of knowledge found in final year nursing and medical students, points out the need to restructure immunization related teaching in our hospitals. Incorporation of immunization based knowledge in high school curriculum is also recommended.It is important that areas of relevant information and education must be delineated time to time with increasing vaccination coverage.

Efficacy and safety of autologous cultured melanocytes delivered on poly (DL-lactic acid) film: a prospective, open-label, randomized, multicenter study.

BACKGROUND Small vitiliginous patches have been treated with epidermal grafts or their cell suspensions. In an attempt to overcome some of the shortcomings of cell suspension delivery, we have delivered melanocytes on a polymeric film. OBJECTIVES To evaluate the clinical effectiveness of a cultured graft consisting of autologous cultured melanocytes on a poly (DL‐lactic acid) (PLA) film in subjects with stable vitiligo. METHODS A prospective open‐label, randomized, multicenter clinical trial was conducted with 22 patients. Each subject was treated with cultured graft and polyurethane dressing (control arm) after epidermal ablation and followed for up to 9 months. The extent of repigmentation in the treated sites was compared with that control sites at days 90, 180, and 270. RESULTS In the treatment arm, a minimum of 70% repigmentation was observed in five subjects at day 90; nine at day 180, and 10 at day 270. In the control arm, only one subject showed repigmentation until day 270. None of the test sites reported any recurrence of vitiliginous patches by the end of the study. CONCLUSIONS Cultured melanocytes delivered on PLA film were efficacious and safe when applied on patients with stable vitiligo.

Senile hemangioma of the lips

A venous lake, sometimes referred to as senile hemangioma of the lips is usually a solitary, non-indurated, soft, compressible, blue papule occurring due to dilatation of venules. It is commonly found on sun-exposed surfaces of the face and ears. We describe a 46 year-old male who presented with this clinical picture on the lower lip.

Goldenhar syndrome: A report of 3 cases

We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia. One of the patients also had vitiligo, which is yet to be reported as an association.

Consensus statement for the diagnosis and treatment of urticaria: A 2017 update

This article is developed by the Skin Allergy Research Society of India for an updated evidence-based consensus statement for the management of urticaria, with a special reference to the Indian context. This guideline includes updated definition, causes, classification, and management of urticaria. Urticaria has a profound impact on the quality of life and causes immense distress to patients, necessitating effective treatment. One approach to manage urticaria is by identification and elimination of the underlying cause(s) and/or eliciting trigger(s) while the second one is by treatment for providing symptomatic relief. This guideline recommends the use of second-generation nonsedating H1-antihistamines as the first-line treatment. The dose can be increased up to four times to meet the expected results. In case patients still do not respond, appropriate treatment options can be selected depending on the associated medical condition, severity of the symptoms, affordability of the drugs, and accessibility of modern biologics such as omalizumab.

Naegeli-Franceschetti-Jadassohn syndrome: A rare case

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes.

Penile pyoderma gangrenosum successfully treated with topical Imiquimod

Pyoderma gangrenosum(PG) is a rare ulcerating inflammatory neutrophilic dermatosis. Genital involvement has been rarely reported. We report such a case of 24- year- old, male patient living with HIV/AIDS(PLHIV) who presented with progressive genital ulceration, not responding to oral antibiotics and aciclovir, gradually increasing in size over 15-18 months. Repeated biopsies showed acute on chronic inflammation. The lesion partially responded to oral and topical corticosteroids but soon increased in size after tapering the dosage of the steroids.Then patient was given Imiquimod 5% cream to be applied over the lesion once daily for 2-4 weeks. Lesion cleared completely in 4 weeks and is in remission since last 6 months. The case report highlights the successful use of topical Imiquimod 5% cream in the treatment of penile PG.