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Verrucous epidermal nevi (VEN) are cutaneous hamartomas characterized by keratinocytic hyperplasia. Majority are linear in distribution and tend to follow the Blaschko lines; however, some may have zosteriform (segmental) or systematized distribution involving widespread areas of skin. The systematized ones are further classified into "Nevus Unius Lateris" when one-half of the body is affected, and "Ichthyosis Hystrix" showing bilateral distribution, both being the uncommon forms. Although it can affect any body part, it rarely involves the head and neck region with seldom involvement of mucosae, scalp, and ear lobes. We saw a 6-year-old child with multiple hyperpigmented verrucous plaques predominantly present over left half of the body, ipsilateral alopecia scalp, and verrucous lesions involving mucosae of palate and tongue, which were present bilaterally. Previously, case reports of oral lesions related to VEN had demonstrated segmental, midline, or unilateral distribution. Hereby, we report this peculiar case of Nevus Unius Lateris with bilateral oral mucosal involvement, owing to its rarity.

Pyoderma gangrenosum (PG) is a rare neutrophilic disorder with an incidence rate of 3–10 cases per million per year, characterized by classically painful and aseptic ulcers, which may be associated with underlying systemic diseases. The pathergy reaction is seen in one-fourth of patients with PG. Accurate and timely diagnosis is crucial, as PG is known for its rapid progression. The management of PG is challenging and depends on its severity and rate of progression. An underlying systemic involvement should be sought even in spite of no symptoms. Herein, we report a case of giant pyoderma gangrenosum involving almost the entire left buttock with exceptionally raised c-ANCA levels, but no underlying systemic abnormality. The patient reported intense pain, rapid progression of the ulcers, an inability to perform daily activities, was significantly morbid and pathergy-positive. Aggressive and early management is required in cases such as this. A dramatic response was achieved with a combination of cyclosporine, dapsone, and methylprednisolone pulses.

Context: Herpes genitalis is a common sexually transmitted disease caused by herpes simplex virus for which no therapy is available which can cure its recurrence. Aims: Comparative evaluation of therapeutic efficacy of topical silver nitrate (AgNO3) in combination with oral levamisole in recurrent herpes genitalis. Methods and Material: A total of 60 patients clinically diagnosed as recurrent herpes genitalis (with 2 or more episodes in last 6 months) with a positive Tzanck smear were divided into 2 groups (test and control) of 30 patients each. Patients in test group were treated with topical application of 10% AgNO3, and then repeated every week, till lesions cleared, or for a maximum of 4 applications along with oral levamisole. In control group distilled water was applied. Patients were followed up for a total period of 24 weeks Results were analysed statistically. Results: In test group only 12 (40%) out of 30 patients showed recurrence, whereas in control group 21 (70%) out of 30 patients showed recurrence. Conclusion: Topical AgNO3 along with oral levamisole has been found to be an effective therapeutic modality not only for treatment but also for preventing recurrence of herpes genitalis and prolonging remissions.

Background: Onychomycosis is a fungal infection of the nail unit and can be caused by dermatophytes, yeasts and non-dermatophyte moulds. None of the treatment modalities yield consistent results. Cryotherapy as a treatment modality has not been studied in its management.Methods: 80 clinically confirmed cases of onychomycosis were enrolled for the study. Cases in group 1 were given liquid nitrogen cryotherapy with dipstick method for 12 weeks at 2 weekly intervals and cases in group 2 were given oral terbinafine in a dose of 500 mg daily for a week/month for 3 months. After 12 weeks cases in both groups were followed up at intervals of 3 weeks till 24 weeks.Results: At week 12 ,40% of the patients in group 1 achieved clinical cure which was comparable to treatment with oral terbinafine pulse which was 45% and G3 response was attained by 20% of the patients in group 1 and 17.5% patients in group 2. The results at 12 weeks were comparable in two groups and p value was insignificant. At the end of study duration, clinical cure was achieved in 32.5% in group 1 and 62.5% of patients in group 2 and p value was highly significant.Conclusions: The results of cryotherapy were inferior to oral terbinafine pulse. Though results with cryotherapy were comparable to oral terbinafine pulse at 12 weeks, at 24 weeks oral terbinafine pulse proved to be a treatment option in finger nail onychomycosis.

Background: One of the most effective options available for treating psoriatic fingernails is intramatricial injection of triamcinolone acetonide. Efficacies of intramatricial methotrexate and cyclosporine have not been comparatively evaluated to date. Methods: Ninety fingernails in 17 patients were assigned to three groups of thirty nails each, and treated with intramatricial injections of triamcinolone acetonide (10 mg/ml), methotrexate (25 mg/ml) and cyclosporine (50 mg/ml) respectively. Each nail was given two injections with a 6-week interval, and graded at 24 weeks using the Nail Psoriasis Severity Index. Results: In both triamcinolone acetonide and methotrexate groups, 15 (50%) nails out of 30 showed >75% improvement. In the cyclosporine group, only ten (33%) nails showed >75% improvement. Side effects were most in the nails treated with cyclosporine. Limitations: The limited follow-up period of 24 weeks may have been insufficient for detecting delayed remissions. The number of patients was small and there was no randomization or blinding. The lack of a placebo/ no- treatment arm can be considered a limitation. Conclusions: Amongst the three drugs studied, intramatricial methotrexate injection yielded the most improvement with minimum side effects, results being comparable to intramatricial triamcinolone acetonide injection. Cyclosporine was the least effective drug, with the most side effects. Intramatricial injection therapy is a safe, economical, simple and effective therapeutic modality in the management of nail psoriasis.

Context: Alopecia areata (AA), an autoimmune disorder, can affect any hair-bearing area. No treatment so far has produced a consistent response. Narrow band ultraviolet B (NBUVB) has not been studied in its management. Aims: Comparative evaluation of intralesional triamcinolone acetonide injection, NBUVB, and their combination in AA. Materials and Methods: Forty patients (28 males and 12 females) with at least three patches of hair loss were enrolled after obtaining written informed consent. Patches were subdivided as follows: Patch 1 was injected with triamcinolone acetonide 2.5 mg/ml (total of three injections) at 3 weeks interval. Patch 2 - NBUVB was given twice a week for a total of 12 weeks. Patch 3 - combination of injection and NBUVB. Therapeutic response was recorded as regrowth of terminal hair (G0 to G4). Statistical Analysis Used: Chi-square test. P < 5% was considered significant. Results: At the end of treatment and follow-up, that is, at week 12, more than 50% of hair regrowth was evident in 27 (67.5%) patients with intralesional steroid; 7 (17.5%) with NBUVB; and 25 (62.5%) patients with their combination. This difference in the clinical response was statistically significant. Conclusions: Intralesional steroid is more effective than NBUVB and their combination is not synergistic in terms of the clinical response in AA.

Circinate balanitis, although a common manifestation of reactive arthritis, is usually an associated finding present along with the triad of arthritis, conjunctivitis, and urethritis. It is rarely seen as the only preceding manifestation of reactive arthritis. We hereby report a case of circinate balanitis as alone preceding presentation of reactive arthritis that was successfully treated with topical pimecrolimus 1% cream.

Melkersson–Rosenthal syndrome comprises of the triad of orofacial swelling, facial paralysis, and fissured tongue. It may present in monosymptomatic form as Meischer granulomatous cheilitis. Herein we report an unusual association of Meischer's cheilitis with Down syndrome.

Touraine-Soulente-Gole Syndrome (TSG) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis & digital clubbing. Herein, we report a case of a 27 year old male, with the looks of a 47 year old. He presented with excessive wrinkling on his face since past 8 years. TSG syndrome was suspected and examined by histopathological, endocrinological and radiological studies for the confirmation of clinical diagnosis.

Reticulate acropigmentation of Kitamura (RAK) is a rare, autosomal dominant disorder first described in Japan characterised by a reticulate pattern of slightly atrophic, angulated, hyperpigmented macules affecting the acral areas of the body. We hereby report a case of RAK in a young Indian male with adermatoglyphia that has not been previously reported in the literature.

Diffuse systemic sclerosis is a multisystem autoimmune disease that is characterized by generalized vascular involvement that results in tissue necrosis and secondary fibrosis. Psoriasis is a chronic inflammatory skin disease. Both of these diseases are autoimmune in origin. Psoriasis is, however, rarely associated with systemic sclerosis, but few cases have been reported, and a common genetic and immunological background shared by these diseases has been suggested. Here we report a case of a 20-year-old female patient with diffuse systemic sclerosis who developed chronic plaque psoriasis with Psoriasis area and severity Index (PASI) of 14.0 and body surface area of 32% with diffuse skin sclerosis and respiratory involvement.

Psoriasis is a chronic systemic inflammatory disease primarily involving skin, nails, and articular system with associated disease-related comorbidities including type 2 diabetes mellitus and metabolic syndrome. In the past, studies had hypothesized that rapid nail growth of psoriatic nail plate with associated parakeratosis does not allow the fungus to lodge in the nail keratin, thereby the incidence of onychomycosis should have been low in nail psoriasis. However, current studies mention that psoriatic nails are predisposed to secondary onychomycosis, but the end result of manifesting as anonychia multiplex of these two coexistent nail diseases, further complicated by methotrexate, has not been reported in the literature till date. We hereby, report a case of anonychia multiplex of psoriatic nails with coexisting onychomycosis, probably induced by methotrexate-related immunosuppression, for its rarity.

Background: The collagen vascular disorders, particularly systemic sclerosis, dermatomyositis, systemic lupus erythematosus and mixed connective tissue disorder, are often characterized by microangiopathic abnormalities of the nail folds. Nail fold dermoscopy is a well-established technique to assess these vascular changes. Aims: To evaluate finger nail capillary vascular abnormalities by dermoscopy and their correlation with cutaneous and systemic involvement in the patients of collagen vascular disorders. Methods: This was a cross-sectional study involving patients of collagen vascular disorders presenting to Government Medical College, Amritsar over a period of 2 years. Nail fold dermoscopy was done in these patients and correlated with cutaneous and systemic involvement. Statistical analysis was done using SPSS 17.0 version. Results: A total of 30 patients were enrolled in the study. Sixteen (53.3%), 11 (36.7%) and 3 (10%) patients of systemic sclerosis, systemic lupus erythematosus and mixed connective tissue disorder, respectively were included for nail fold dermoscopy. The commonest change recorded in our study was dilated capillaries in 21 (70%) patients, followed by capillary dropouts in 17 (56.7%) patients and avascular areas in 16 (53.3%) patients. Of 17 patients presenting with sclerodactyly, active, early and late patterns were seen in 7 (41.2%), 2 (11.8%) and 7 (41.2%) patients, respectively. Out of 13 patients with respiratory involvement, active, early and late patterns were seen in 1, 1 and 7 (53.8%) patients, respectively (P value = 0.004). Limitations: Owing to lesser number of patients in our study, it is difficult to draw conclusive recommendations, and more studies with a larger sample size are required. Conclusion: Dermoscopy is a valuable tool not only to diagnose collagen vascular disorders but also for prognostication by correlating with systemic involvement.

Condyloma acumianata is one of the most common virally transmitted diseases. Its prevalence has increased many fold throughout the world. Because all the currently available treatments yield low cure rates with side effects, the search for a new alternative continues. Topically, 5-fluorouracil (5-FU) has been in used for many years to treat various skin diseases. When applied topically in condyloma acuminata, 5-FU results in low cure rates with high recurrences. Therefore, intralesional 5% 5-FU is being evaluated to determine its therapeutic efficacy in condyloma acuminata.

Terra firma-forme dermatosis or dermatosis neglecta is characterized by dirty brown plaques that can be removed by forceful rubbing or with an alcohol swab. Also known as Duncan’s Dirty Dermatosis, it is usually seen at the regions of the neck, trunk, and upper extremities in children as well as adults. Here we report a patient with complaints of multiple asymptomatic dirty brown-colored, flat-topped slightly raised lesions over the face in a young girl, and emphasize its unique expression. All the lesions completely disappeared with forceful rubbing using a spirit swab, with normal underlying skin without any recurrence till date.

Introduction: Molluscum contagiosum (MC) is a cutaneous viral infection caused by a poxvirus, manifested by discrete, papular, pearly lesions with central umbilication. Genital lesions are mainly transmitted sexually. Till date, several forms of medical and surgical therapies have been used with variable success. In the present study, an attempt was made to review all the female patients of genital MC attending the sexually transmitted infection (STI) clinic of the Department of Dermatology, Venereology, and Leprosy of Guru Nanak Dev Hospital, Amritsar. Aims and Objectives: In the present study, therapeutic efficacy and comparative evaluation of topical 10% and 20% of potassium hydroxide (KOH) were undertaken. Materials and Methods: A total of 30 female patients of age group 18–50 years with clinically diagnosed MC and more than ten lesions were enrolled in this study. The lesions in each patient were divided into two equal Groups A and B. Topical 10% KOH was applied over lesions of Group A and 20% over lesions of Group B with the help of 26G needle. First, two applications were done by the doctor, and subsequent applications were done twice a week at bedtime at home by the patient herself until crusting. These cases were followed up at 4th day, 1st, 2nd, 3rd, 4th, 6th, 8th, 10th, and 12th week. Results were analyzed objectively and photographically at each follow-up and at the end of the study statistically. Results: Mean duration of treatment ± standard deviation in normal patients, HIV-positive patients, patients with associated STIs, patients with associated non-STIs, and pregnant patients in Group A and Group B was 6.83 ± 2.692, 9.33 ± 1.633, 6.83 ± 2.887, 8.20 ± 3.347, and 8.75 ± 2.121 weeks and 5.2 ± 2.156, 7.33 ± 1.633, 5.25 ± 2.050, 6.20 ± 2.864, and 6.50 ± 1.414 weeks, respectively. Conclusion: Topical 20% KOH is better than 10% KOH in genital MC in females.

Objectives. Although the incidence of skin cancers in India (part of South Asia) is low, the absolute number of cases may be significant due to large population. The existing literature on BCC in India is scant. So, this study was done focusing on its epidemiology, risk factors, and clinicopathological aspects.Methods. A hospital based cross-sectional study was conducted in Punjab, North India, from 2011 to 2013. History, examination and histopathological confirmation were done in all the patients visiting skin department with suspected lesions.Results. Out of 36 confirmed cases, 63.9% were females with mean ± SD age being60.9±14.2years. Mean duration of disease was 4.7 years. Though there was statistically significant higher sun exposure in males compared to females (Pvalue being 0.000), BCC was commoner in females, explainable by intermittent sun exposure (during household work in the open kitchens) in women. Majority of patients (88.9%) had a single lesion. Head and neck region was involved in 97.2% of cases, with nose being the commonest site (50%) with nodular/noduloulcerative morphology in 77.8% of cases. Pigmentation was evident in 22.2% of cases clinically. Nodular variety was the commonest histopathological variant (77.8%).Conclusions. This study highlights a paradoxically increasing trend of BCC with female preponderance, preferential involvement of nose, and higher percentage of pigmentation in Indians.

Background: Psoriasis is a chronic, autoimmune, inflammatory papulosquamous disorder, the treatment of which remains challenging. A variety of therapeutic modalities have been used with varying degree of success. But, there is no such therapeutic modality till date that can prevent the relapse in psoriasis. Aims: The present study is being undertaken to evaluate the therapeutic efficacy of intralesional 5% 5-fluorouracil (5-FU) as well as its role in preventing relapse in resistant localized plaque psoriasis. Study Design: An open, prospective, randomized-controlled study. Materials and Methods: A total of 40 patients of resistant localized plaque psoriasis were enrolled for the study. Intralesional injection of 5% 5-FU was given in a dosage of 0.1 mL/cm 2 of each plaque using an insulin syringe. In all patients, a single plaque was kept as control and was given intralesional injection of distilled water. A total of three injections were given in each plaque at weekly intervals. After that, patients were followed-up regularly at the interval of 2 weeks up to 12 weeks. All the lesions (both treated and control) were assessed clinically as well as photographically at each visit and graded using psoriasis severity index scoring. Results were analyzed statistically at the end of the follow-up period. Results: At 12 weeks follow-up, out of 40 patients treated, 4 (10%) patients had clearance (>90% resolution), 19 (47.5%) had excellent (70%-90%) improvement, whereas 12 (30%) patients were moderately (30%-70%) improved, and only 5 (12.5%) patients had mild or no improvement. Results were statistically significant in treated group in comparison to control group. Almost all patients complained of pain at the site of injection which subsided within 1-2 h. A total of 10 (25%) patients had necrosis after one or two injections which healed during the follow-up period within 6-8 weeks. Conclusion: Intralesional 5% 5-FU is found to be an effective therapeutic modality in resistant localized plaque psoriasis without much side effects.

Probiotics are live microbial food supplements that are beneficial to the host health when administered in adequate amounts. Probiotics do have an exciting concept in digestive functions, but these live microbes have wider applicability as evidenced by gut-brain-skin axis theory given 80years back. However, the details regarding use of probiotics for dermatological indications ranging from atopic dermatitis to acne and sexually transmitted infections is dispersed in the literature, herein we have tried to focus all under one heading. Overall, probiotics seem to be promising and safe therapeutic modality, but the evidence as of now, from the available published data is low. This review will stimulate readers to carry out well designed, larger population based trials, so as to validate its use in dermatology practice.

Background Despite consistent recommendations in numerous guidelines sponsored by professional societies, screening youth for familial hypercholesterolemia (FH) and/or those with a family history of premature cardiovascular disease (CVD) identifies only a small percentage of high-risk youth. By linking parent and child data in the virtual data warehouse, we can assess current screening practices, factors that impact screening practices and ultimately strategies aimed at improving childhood screening.

Objectives Understanding the prevalence and outcomes of cardiovascular disease across different health systems will enable organizations to effectively use clinical datasets to monitor and improve the care delivered to their patients. Framed within the context of comparative effectiveness research, this study utilized comprehensive administrative datasets to describe outcomes of hospital readmission, Emergency Department (ED) use, and mortality following a cardiovascular event (myocardial infarct, congestive heart failure, angina, stroke). We examined patients within the same geographic region (central Texas) at Scott & White Healthcare (SWHP) and the Veterans Health Administration (VA).

Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. We hereby report a case of dyschromatosis universalis hereditaria in a young female with a family history of the disorder.

Background Vitiligo affects 1% of the world's population with a higher incidence in dark-skinned individuals. Many medical treatments have been attempted with partial success, but recent focus has been on surgical techniques. The aim of this study was to evaluate and compare the therapeutic efficacy of dermabrasion, dermabrasion combined with 5% 5-fluorouracil cream, and dermabrasion combined with topical placentrex gel in the management of localized stable vitiligo. Methods Thirty patients with localized stable vitiligo (at least three lesions each) were treated. After dermabrasion, a soframycin tulle dressing was placed on the first lesion, a topical 5% 5-fluorouracil dressing on the second, and a topical placentrex gel dressing on the third for 7 days after the procedure, and the patients were followed up for 6 months. Results The efficacy of treatment was highest (73.33%) and most rapid in lesions treated with dermabrasion combined with 5-fluorouracil. Dermabrasion alone and dermabrasion combined with placentrex gel showed similar efficacy in localized stable vitiligo. Conclusion Dermabrasion combined with 5-fluorouracil is the most efficacious of the three treatment modalities studied.

Graham Little Piccardi Lasseur Syndrome (GLPLS) is a rare variant of lichen planopilaris comprising of a triad of multifocal and patchy cicatricial alopecia of scalp, non-cicatricial alopecia of axillae and pubic region and keratotic follicular papules over a body. Its exact etiology is not known until date, but primarily involves an immune mediated inflammatory reaction against the bulge region of hair follicles resulting in cicatricial alopecia. We report an extensive and diffuse presentation of this rare syndrome in a middle-aged female with hypertrophic lichen planus (LP) present on malar region of face, etiologically relating GLPLS to LP.

Dermatofibrosarcoma protuberans (DFSP) is a low-grade tumor with rare metastasis. A 26-year-old male presented with multiple cutaneous nodular lesions of DFSP since 3 months along with distant metastasis to the brain, pleura, and muscles that were detected on investigations. The case is being reported due to its rare disseminated cutaneous with systemic metastasis.

Imatinib is a tyrosine kinase inhibitor approved as a first line treatment for chronic myeloid leukemia and gastrointestinal stromal tumors. Usually the drug is well-tolerated with hematological adverse effects being most commonly seen. Dermatological side effects are seen in 9.5-69% of patients on imatinib; majority of which are minor and self-limiting. We, hereby, report a case series of erythroderma occurring secondary to imatinib in two patients with chronic myeloid leukemia. Both the patients improved upon the discontinuation of the drug. The literature review revealed only six probable cases of erythroderma due to imatinib. So, this case series is being reported for the rarity of this adverse effect of imatinib.

Dyschromatosis universalis hereditaria (DUH) is a rare, autosomal dominant genodermatosis with a peculiar reticulate pigmentary change, consisting of hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling. We herein report a case of DUH with adermatoglyphia in a young male with family history of the disorder.

Thirty patients with localised stable vitiligo were selected from the Out Patient Department for cosmetic tattooing. Of them, 19 cases (63.3%) had skin patches, 9 cases (30%) had mucosal patches, and 2 cases (6.7%) had both skin and mucosal involvement. After complete clinical evaluation, cosmetic tattooing was performed on these patients, and they were followed up for 6 months. As results, 23 cases (76.7%) had excellent color matching, 2 cases (6.7%) had good color matching, and 5 cases (16.6%) had pigment shedding. Excellent results were seen in all mucosal patches. Dark complexion cases showed better results than fair complexion ones.

Background: Melasma is a common, acquired and symmetrical hypermelanosis characterized by more/less dark brownish macules, with an irregular contour, but clear limits, on photoexposed sites. The pathogenesis is unknown, but several clinical patterns and etiological factors have been implicated. Aims: Our present study aims to elucidate the epidemiology, clinical patterns and etiological factors in the causation of melasma in North Indians. Methods: A total of 200 consecutive patients attending the out-patient clinic from September 2013 to February 2104 with the clinical diagnosis of melasma were enrolled for the study. Photographic record was kept to study the clinical patterns. Results: The mean age of patients with melasma was 32.9 years, ranging from 18 to 60 years. Female patients out-numbered male patients, and ratio of female to male patients was 6.14:1. Patients sought medical treatment on an average of 1.79 years after appearance of melasma. 48.84% of female patients and 78.57% of males reported exacerbation with sun exposure. 36.4% of the females reported onset of melasma during pregnancy. Family history was observed in 29.07% of our female patients and 14.28% of males. History of use of mustard oil either for massage or for cooking was given by 54.07% of females and 32.14% of males, while 45.35% of females and 32.14% of males used topical corticosteroids or over-the-counter products for the treatment of melasma. Centro-facial was the most common pattern observed in 76.74% of the female patients while the malar pattern was seen in 85.71% of males. Other patterns we observed were mandibular (3.5%), lateral cheek (1.5%) and brachial (1%). Conclusion: The exact pathogenesis of melasma is unknown. Here in we have tried to elucidate the epidemiology, clinical patterns, and etiological factors in the causation of this pigmentary imperfection.

Plica polonica is an acquired condition characterized by irreversible matting of hairs. It has been most commonly reported in association with psychiatric disorders. Here, we report a case of felting in rupoid psoriasis in a 13-year-old female.

Background: Herpes genitalis is one of the commonest sexually transmitted infections in the world caused by herpes simplex virus (HSV) 1 and 2. All herpes viruses show latency. Herpes genitalis caused by HSV-1 and HSV-2 is recurrent in 55 and 90% of case respectively. Aims: To comparatively evaluate the therapeutic efficacy of topical zinc sulfate (ZnSO 4 ) in varying concentrations in herpes genitalis. Materials and Methods: Ninety patients clinically diagnosed as herpes genitalis and confirmed by Tzanck test were taken up for study and divided into 3 groups of 30 patients each which were applied topical ZnSO 4 in concentrations of 1%, 2% and 4% respectively for 3 months. Ten patients of herpes genitalis were kept as control in whom only distilled water was applied. Patients were followed up for a total period of 6 months for any recurrences. Results: Ten patients of group 1 (1% ZnSO 4 ) showed recurrence, 6 patients in group 2 (2% ZnSO 4 ) and only one patient in group 3 (4% ZnSO 4 ) showed recurrence. In the control group, 8 out of 10 patients showed recurrence. No serious side effects were seen in all 3 groups. Conclusion: Topical ZnSO 4 has been found to be an effective therapeutic modality not only for treatment but also for prolonging remissions in herpes genitalis. Topical 4% ZnSO 4 has been found to be most efficacious out of the three concentrations, without any side effects.

Background/Aims Family relationship data in the Scott & White Virtual Data Warehouse (VDW) gathered from multiple sources across the institution is a rich resource that provides an opportunity to study patterns of inherited disease and the ability to evaluate the efficacy of targeted screening strategies. In an integrated healthcare delivery system, linkage of the parent and child (family) electronic health records (EHR) provides an opportunity to improve outcomes by implementing proactive/preventative screening and/ or treatment in offspring. Our study focuses on how linkage of the parent/ child EHR can be used to identifying youth at risk for a number of autosomal dominant inherited diseases.

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.