VDR polymorphisms ApaI [rs7975232], TaqI [rs731236] and FokI [rs2228570] in Pakistani vitiligo patients and controls

Objective: To understand the role of three single nucleotide polymorphisms [SNP] of vitamin D receptor [VDR] gene rs7975232, rs731236 and rs2228570 in Pakistani vitiligo patients and ethnically matched controls

Methods: 196 vitiligo patients and 262 controls were included in this study. Genomic DNA was extracted and polymerase chain reaction, restriction length polymorphism [PCR-RFLP] was done

Results: Genotype CA [rs7975232] was found to be associated with susceptibility [Odd ratio=1.46, 95% CI=1.01-2.13, p=0.046] and TT genotype [rs731236] with protection [Odd ratio=0.48, 95% CI=0.25-0.92, p=0.003] to vitiligo. TT genotype for rs731236 was significantly high in controls and absent in undetermined/unclassified group of patients. Vitiligo patients and controls were also compared on the basis of gender. Genotype CA [OR=2.12, 95% CI=1.18-3.79, p=0.013] and CC [OR =0.21 95% CI=0.06-0.73, p=0.007] for rs7975232 were significantly high in male patients and controls, respectively. For rs2228570 CC genotype was significantly high in controls [OR=0.52, 95% CI=0.2-0.97], p=0.04] while TC genotype showed significant difference between patient and controls [OR=1.93, 95% CI=1.02-3.6], p=0.05]. In combined effect haplotype A-T-C was found significantly high in controls as compared with the patients [Odd ratio=0.57, 95% CI=0.34-0.97, p=0.04]

Conclusion: VDR polymorphisms may be involved in etiology of vitiligo and future studies should be design to screen large sample size for more VDR polymorphism to get more precise picture

Secondary Syphilis mimicking palmoplantar pustular Psoriasis: an unusual clinical presentation

A 38 year old Pakistani man presented with multiple, red, raised, pustular and scaly asymptomatic lesions on the palms and soles of 3 months duration. His past medical history was unremarkable. On physical examination he had multiple, symmetrically distributed erythematous plaques with well-delineated margins surmounted by pustules and scales on the palms and soles. There was paronychia around the fingernails involving nearly all the digits of the hands. Detailed examination also revealed hyperkeratotic lesions in the beard area, skin coloured papules concentrated around the nostrils and the angles of the mouth. There were mucous patches on the tongue and inner aspect of lips. Anogenital examination showed perianal condylomas with no genital erosion, ulceration or old scar mark. His vital signs were within normal limits and systemic examination did not reveal any abnormality. Biopsy finding from a scaly, erythematous plaque was consistent with syphilis i.e. perivascular infiltrate of lymphocytes and plasma cells with endarteritis obliterans. The second specimen from a pustular lesion showed localized epidermal accumulation of numerous neutrophils, lymphocytes and karyorrhectic debris. There was some overlying hyperkeratosis and parakeratosis alongwith lengthening of rete ridges with dilated, tortuous dermal capillaries. This picture was consistent with pustular psoriasis. The patient`s venereal disease research laboratory [VDRL] test and trepenoma pallidus h aemogbulination [TPHA] were positive in titers of 1:16 and 1:320 respectively. She was found to have mucous patches in the mouth and had positive serology for syphilis. Both husband and wife were treated with injection Benzyl Penicillin 10 lacs I.0 i.v 6 hourly for 2 weeks and they responded well to treatment. They were advised 3 monthly follow-up in the first year and then at 18th and 24th months. Six months after treatment the patient was symptom-free with a positive VDRL in a low titre of 1:2

Familial dysbetalipoproteinemia: a potentially fatal disorder

Familial dysbetalipoproteinemia is an inherited disorder in which both cholesterol and triglycerides are elevated in the plasma of the blood, which pre-disposes people to coronary artery disease and peripheral vascular disease. We report two young boys with multiple cutaneous xanthomas and grossly abnormal serum cholesterol and triglycerides. Two of the family members had died of cardiovascular accidents in young age and rest of the family members had deranged lipid profile. Patients were managed with lipid lowering drugs and fat restriction diet. All family members were counseled and advised regular exercise and follow-up

Value of transverse section scalp biopsy in alopecia areata - a clinicopathological correlation

To correlate the histopathological features of alopecia areata with clinical stage by means of transverse sectioned scalp biopsy specimens, in terms of extent and duration of disease. Cross-sectional. Department of Dermatology, Combined Military Hospital, Kharian Cantonment, Pakistan, from January 2002 to December 2004. Fifty consecutive patients with alopecia areata were included in the study Four millimeter punch biopsy was taken and representative horizontal sections from lower and upper dermis were examined. Patients were divided according to disease extent i.e. Group I [<25% of scalp surface area], Group II [25 - 75% of scalp surface area] and Group III [>75% of scalp surface area including alopecia totalis and universalis]. Patients were also analyzed according to the disease duration, i.e. 0-6 months, > 6-12 months, > 1-5 years and > 5 years. Follicular unit counts and density/ mm[2], terminal to vellus hair ratio, anagen to telogen ratio, cellular infiltrate and fibrosis were measured to assess the diagnosis and prognosis of disease. Chi-square test was used to assess statistical significance. Diagnosis of alopecia areata could be made in 82% of biopsies. Follicular unit counts and density per mm[2] decreased with the disease duration [p=0.01]. Catagen and telogen hair follicle counts increased with disease duration [p=0.0001]. Cellular infiltrate decreased and fibrosis increased with the duration of disease [p=0.0001]. Anagen telogen ratio and terminal to vellus hair ratio inverted in long-standing disease. Transverse section scalp biopsy can help in the diagnosis of alopecia areata and the disease stage can be predicted by analyzing the histopathological findings quantitatively

Chromoblastomycosis: two cases of a disfiguring deep mycosis

Chromoblastomycosis is a chronic cutaneous and subcutaneous mycotic infection caused mostly by traumatic implantation of pigmented saprophytic moulds ubiquitous in the environment. If not diagnosed earlier, it has a chronic evolutional course that may cause several problems. We present two cases [father and a son] who were simultaneously infected with this uncommon fungal infection. Both had extensive face involvement. Diagnosis was considerably delayed and they were subjected to a myriad of empirical treatments

Pigmentary skin disorders in black Africans of Sierra Leon

Eighty percent of the world`s population consists of individuals with pigmented skin. Darker skin differs from Caucasian skin in its reactivity and disease presentation. The purpose of the study was to see the prevalence of disorders of pigmentation in black Africans of eastern province of Sierra Leone and to compare the differences with other ethnic populations. The study was carried out in eastern province [Kenema] of Sierra Leone from Nov, 2004 to Oct, 2005. It was an observational/descriptive study. Local black patients of all age groups presenting in dermatology out patient department of Pak Field Hospital [established as a part of UN peacekeeping mission in Sierra Leone] were included. After clinical history and physical examination, laboratory investigations were carried out when indicated. Skin diseases were broadly classified into two major categories i.e. pigmentary and non pigmentary. Non-black settlers in the area and UN troops were not included in the study. Data was recorded and analyzed by Microsoft Excel. A total of 3011 patients belonging to different local tribes having a variety of skin disorders were seen during the study period. Patients were of all ages and both sexes ranging from I month to 73 years of age. Sex ratio was almost equal. The pigmentary skin disorders were seen in 228 [7.6%] patients and most prevalent disorders were post inflammatory hyper and hypopigmentation, followed by melasma, vitiligo and albinism. Pigmentary disorders in blacks are not infrequent and can be of significant concern

Onchocerciasis: a review of a filarial disease of significant importance for dermatologists and ophthalmolodists

Onchocerciasis is a common, chronic, multisystemic disease caused by the nematode Onchocerca volvulus. The disease characteristically includes dermatologic, lymphatic, ophthalmologic, and systemic manifestations. It is transmitted to humans by a bite from the intermediate host, the black fly [Simulium damnosum]. It is endemic in Western and Central Africa and approximately 95% of all infected people live in these regions. Onchocerciasis has been associated with a high incidence of detrimental effects on socioeconomic development and public health in endemic areas. We, here in Asia, hardly see any case of this disease but due to globalization, frequent international traveling and deployment of military troops from Asian countries [as a part of UN forces] in endemic African countries. We should expect such diseases in our region also and should have a high index of suspicion. Here is a review of this troublesome filarial disease with emphasis of its clinical spectrum, so that dermatologists, ophthalmologis ts and physicians in our region would be able to keep this disease in mind as a differential diagnosis of some unusual case of dermatitis, blindness or arthritis etc. Patients described in this article are author`s own collection during one year stay in Sierra Leone [an endemic country of West Africa for the disease]

Hypohidrotic ectodermal dysplasia: a case report and literature review

Ectodermal dysplasia is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, mucus and sweat glands. Different combination of defects may give rise to variable phenotypes of this syndromic disorder. We present a nine years old boy having dental, skin and sweat glands defect. A brief review of literature is also presented

Efficacy and safety of oral dexamethasone pulse treatment for vitiligo

Results of previous studies on efficacy and safety of oral corticosteroid pulse treatment for vitiligo are inconsistent. The objective of this study was to assess the efficacy and safety of oral dexamethasone pulse treatment in a cohort of Pakistani patients. This is a descriptive study. Thirty patients with vitiligo were included in the study. Of these, 21 had progressive disease and 9 had stable disease. The patients were given weekly pulses of dexamethasone on 2 consecutive days every week followed by 5 days off treatment for a maximum of 24 weeks. Clinical response and side effects were evaluated at monthly intervals. Plasma cortisol levels were also monitored. After a mean treatment period of 16 + 4 weeks, progression was arrested in 18 [85.7%] of 21 patients with active vitiligo before the study. Overall, repigmentation was noted in 14 [46.6%] patients at the end of 24 weeks. The extent of repigmentation varied from less than 25% [slight] to 51% to 75% [marked]. Twenty [66.6%] patients reported one or more side effects. Plasma cortisol values were markedly decreased 24 hours after the second dose of each pulse but returned to baseline before the next dexamethasone pulse. Oral corticosteroid pulse therapy is an effective treatment modality to arrest progressive vitiligo but is only moderately effective in inducing satisfactory repigmentation. Treatment associated side effects are frequent but reversible; however, sustained suppression of endogenous cortisol production does not occur with pulse regimen

Comparative cellular immune host response in acute vs healed lesions of cutaneous leishmaniasis

Cutaneous leishmaniasis [CL] has become a major public health problem in Pakistan and research is now focused to characterize the host's immune response, its clinical correlation and subsequent implications in management in this disease. This study was done to evaluate cellular immune host response in patients with active and healed CL and its possible implications in prevention of disease in susceptibles. This cross sectional and comparative study was conducted in Armed Forces Institute of Pathology [AFIP] and Military Hospital [MH] Rawalpindi [1998-2000]. 30 biopsies of active skin lesions and 15 biopsies from healed lesions, after processing, were studied for various immunophenotype cells by using monoclonal antibodies. Total and differential T cell counts were recorded in these skin tissues. Non parametric Kruskal-Wallis Test for one way ANOVA was used to compare the median cell counts between active, healed and normal skin and p-value <0.05 was considered significant. The total cell counts, CD3+ cells and CD57+ [NK] cells were found statistically different [p=<0.001] when active forms of the disease were compared with healed lesions and normal skin tissue. The difference was not significant [p=>0.05] on comparing healed lesions with normal skin tissue biopsies except in case of CD3+ cell counts [p=<0.05]. However, CD4+, CD8+ and CD19+[Plasma cells] counts were never seen significant [p=>0.05] on comparison. NK cells and gamma delta cells seem to be responsible for limitation of the disease and elimination of the parasite from the lesion in cases of acute cutaneous leishmaniasis

Cellular immune host response in acute cutaneous leishmaniasis

To evaluate cellular immune host response in various patterns of acute cutaneous leishmaniasis. It was a cross-sectional and comparative study. The Armed Forces Institute of Pathology [AFIP] and Military Hospital [MH], Rawalpindi from 1996 to 1999. 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. 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]. The sporotrichoid variant of cutaneous leishmaniasis may be due to a different parasite species, which provokes a different cellular immune response

Zosteriform lichen planus: a new variant of a common disorder

Background: Lichen planus [LP] is generally easily recognizable but sometimes it comes in disguise. It has been reported to occur in the scars of previous herpes zoster lesions. Zosteriform pattern in LP, without evidence of herpes zoster, is an extremely rare occurrence. We describe a series of nine patients seen with this peculiar pattern

Materials and methods: Nine patients of varied ages presenting during Jan, 2002 to Dec, 2003, with grouped lichenoid lesions on various regions of the body. There was no previous or concomitant history of herpes zoster on the involved site or elsewhere on the body. Lesions were clinically assessed and laboratory investigations including blood counts, blood sugar, serum liver function tests, serology for hepatitis B and C, serum urea and creatinine were carried out. Skin biopsies were also performed for histopathological studies in all cases

Results: Most patients were young to middle aged males. No associated systemic clinical illness was seen in any patient. Skin lesions were suggestive of LP. Laboratory investigations were within normal limits in all patients except one, who was positive for hepatitis C. Skin biopsies revealed classical changes of lichen planus in most cases

Discussion: Linear lesions following lines of Blaschko have not been so uncommon, but zonal or zosteriform distribution of LP lesions without koebnerization is a very rare occurrence. Exact etiology of this unusual pattern could not be ascertained. The possible cause could be an unknown drug, food or a form of blaschkitis

Conclusion: Zosteriform LP is an emerging new variant, which should be looked for in clinical practice

Acquired hemangioma: an uncommon vascular cutaneous tumour in elderly persons

Among recently characterized vascular tumors, tufted angioma or angioblastoma is a benign acquired slowly progressive cutaneous tumor, which most commonly arises in the neck and upper trunk in children and young adults. We describe such a case occurring in an elderly person. Clinically this tumour may closely mimic Kaposi's sarcoma and should be biopsied for histological confirmation of the diagnosis

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

Multiple familial trichoepithelioma: a rare cutaneous tumour

Multiple familial trichoepithelioma [MFT] is a rare autosomal dominant skin disease that present as many small tumours predominantly on the face. We report a case of multiple familial trichoepithelioma occurring in three members of a family. They were diagnosed simultaneously. Only one was treated with medium depth chemical peeling with partial response

Diagnosis modalities in cutaneous leishmaniasis

Cutaneous leishmaniasis is a protozoan disease caused by various species of an obligate intracellular parasite Leishmania. It is endemic in more than 80 countries on five continents; Africa, Asia, Europe, North America and South America, with a total of 350 million people at risk. In view of the large number of clinical presentations of cutaneous leishmaniasis [CL], a correct diagnosis of the disease becomes important. Clinical appearance along with history of visit to an endemic area may be sufficient at times. These days the diagnosis is generally aided by slit skin smear and impression smears examination, histopathology of the tissue sections and by culture of parasite. However, unusual clinical presentation, superadded infection or persistence of the disease for a prolonged time, has provoked scientists to develop more sensitive methods to detect even a trace of the parasite. The present article is to review the various diagnostic techniques and their relevance in different clinical settings

Porokeratosis of Mibelli: an uncommon genodermatosis

Porokeratosis of Mibelli is an uncommon, inherited, autosomal dominant disorder characterized by disordered epidermal keratinization and by a predisposition to develop malignant transformation. A case of this rare disorder with classical presentation in a teen aged boy is reported here, which was managed with topical retinoid, superficial chemical peeling and sunscreen lotion

Different patterns of dermatoglyphics in normal Pakistani population

Fingerprints are the patterns formed by parallel ridges on bare skin of fingertips. They are typical for higher primates, but occur sporadically in other mammals and are unique to the individual and remain unchanged over a lifetime. A study was carried out to delineate various patterns of fingerprints seen in our normal population. 300 otherwise healthy individuals belonging to heterogeneous population and of all ages were included. Fingerprints of all fingers of both hands were taken under standardized technique. Four patterns [loop, whorl, arch and composite] were seen. Loops were most common [57.2%], followed by whorls [29.8%] and arches [10.2%]. Composite pattern was found to be least common [2.8%]. These results were largely in conformity with previously done, one national and some international studies on the subject. This study provides a good base line data of different dermatoglyphic patterns in our population and further work is needed to explore its implications in various fields of medicine