The field of genetics in dermatology has progressed at an astonishing rate. Most of the known single gene disorders have at least been mapped to a particular chromosomal region and the causative genes have been identified and studied in many of them. However, most research work in genetics relating to genodermatoses has been confined to the western population. Very few reports, if any, have been published from Indian studies. A first step may be to develop a registry to link most of these cases providing a full description of the clinical phenotype. We would next need to attempt genetic analysis of these conditions thereby detecting any novel mutations in known and unknown genes different from the western population. This would help in designing indigenous assays appropriate to the Indian population. The review describes various techniques used in a molecular biology/ genetics laboratory with special focus on polymerase chain reaction (PCR), gene sequencing, genotyping and DNA micro arrays. Gene identification strategies have also been described with appropriate examples in dermatology.

Background and Aims: The prevalence of polymorphic light eruption (PLE) varies between 10-20% in different countries but no such data is available from India, where exposure to sunlight is high. Methods: A clinico-epidemiological study of PLE was done in the skin outpatient department (OPD) of Institute of Medical Sciences Hospital from January to December. Results: The ages of the patients varied from 5-70 years. Out of a total of 39,112 OPD cases, 220 cases of PLE (138 females and 82 males) were recorded, giving a prevalence of 0.56% in this study population. The skin type varied between IV and VI in 96% of the cases. Housewives were 81, students 67, office persons 39, farmers 22, businessmen 6 and unemployed 5. Discussion: The manifestation of PLE was most common in housewives in areas exposed to the sun. Most of the PLE patients presented with mild symptoms and rash around the neck, forearms and arms which was aggravated on exposure to sunlight. PLE was more prevalent in the months of March and September and the disease was recurrent in 31.36% of the cases. Conclusions: The prevalence of PLE was 0.56%. It was mild in nature and only areas exposed to the sun were involved.

Background: Polymorphic light eruption is the most common photodermatosis characterized by nonscarring, pruritic, erythematous papules and plaques. Aim: To evaluate the efficacy and safety of hydroxychloroquine in comparison with chloroquine in patients suffering from polymorphic light eruption. Methods: This was a randomized, double-blind, comparative, multicentric study conducted at two centers. This study enrolled 68 (58.1%) males, 49 (41.8%) females whose ages ranged from 18-73 years and average weight was 57.89 ± 8.27 kg. A total of 117 patients were enrolled in the study. Out of 117 patients, 63 patients were randomized to receive hydroxychloroquine tablets 200 mg twice daily for the first month and 200 mg once daily for the next month. Similarly, 54 patients were randomized to receive chloroquine tablets 250 mg twice daily for the first month and 250 mg once daily for the next month. The total duration of therapy for both the study arms was two months. The severity and frequency of burning, itching, erythema and scaling were evaluated at predetermined intervals (at baseline, after four, eight and 12 weeks of therapy). Results: A significant reduction in severity scores for burning, itching, and erythema was observed in patients treated with hydroxychloroquine than with chloroquine ( P < 0.05). However, hydroxychloroquine was as good as chloroquine in reducing severity of scaling at the end of the study evaluation ( P = 0.229). The good to excellent response was reported by 68.9% of the patients who received hydroxychloroquine and by 63% of the patients who received chloroquine. The adverse events reported were mild to moderate and none of the patients reported any serious adverse events or ocular toxicity in this study. Conclusion: Hydroxychloroquine was found to be significantly more effective than chloroquine in the treatment of polymorphic light eruption and can be used safely in the dosage studied in such patients with little risk of ocular toxicity.

Background: Cutaneous leishmaniasis (CL) is known for its clinical diversity and increasing numbers of new and rare variants of the disease are being reported these days. Aim: The aim of this descriptive study was to look for and report the atypical presentations of this common disease occurring in Pakistan. Methods: The study was carried out in three hospitals (MH, Rawalpindi; PAF Hospital, Sargodha; and CMH, Muzaffarabad) from 2002 to 2006. Military and civilian patients of all ages, both males and females, belonging to central and north Punjab province and Kashmir were included in the study. Clinical as well as parasitological features of cutaneous leishmaniasis were studied. The unusual lesions were photographed and categorized accordingly using simple descriptive statistics. Results: Out of 718 patients of cutaneous leishmaniasis, 41 (5.7%) had unusual presentations. The commonest among unusual morphologies was lupoid leishmaniasis 14 (34.1%), followed by sporotrichoid 5 (12.1%), paronychial 3 (7.3%), lid leishmaniasis 2 (4.9%), psoriasiform 2 (4.9%), mycetoma-like 2 (4.9%), erysipeloid 2 (4.9%), chancriform 2 (4.9%), whitlow 1 (2.4%), scar leishmaniasis 1 (2.4%), DLE-like 1 (2.4%), 'squamous cell carcinoma'-like 1 (2.4%), zosteriform 1 (2.4%), eczematous 1 (2.4%), verrucous 1 (2.4%), palmar/plantar 1 (2.4%) and mucocutaneous 1 (2.4%). Conclusion: In Pakistan, an endemic country for CL, the possibility of CL should be kept in mind while diagnosing common dermatological diseases like erysipelas, chronic eczema, herpes zoster, paronychia; and uncommon disorders like lupus vulgaris, squamous cell carcinoma, sporotrichosis, mycetoma and other deep mycoses.

Background: Tuberous sclerosis complex (TSC) is a neurocutaneous genodermatosis characterized by hamartoma formation in multiple organs. There are no definite cutaneous markers suggestive of central nervous system (CNS) involvement in TSC. Aims: To study association of forehead plaque seen in tuberous sclerosis patients and CNS involvement in TSC. Methods: This is a retrospective study of 15 cases of tuberous sclerosis in varying age groups - from 1.5 to 50 years. All the cases were thoroughly evaluated with detailed history; clinical examination; and relevant investigations like X-rays of chest, skull, hands and feet; ultrasound abdomen and computed tomography of brain. Results: Out of the 15 cases, CNS involvement was seen in 8 cases. Seizures were present in 8 cases (53.33%) and mental retardation was seen in 6 cases (40%). Computerized tomography of brain revealed subependymal nodules (SENs) in eight cases (53.33%). In addition to SENs, subependymal giant cell astrocytomas and cortical tubers were seen in 2 cases each. Out of these 8 cases having CNS involvement, in 7 cases forehead plaque was observed. In 1 case, no forehead plaque was observed (X ² = 1.07, P <0.05). Conclusion: This study shows that there is a statistically significant relationship between the presence of a forehead plaque and CNS involvement in TSC. Therefore, forehead plaque may be considered as a novel cutaneous marker to know the CNS involvement in TSC at an early stage.

Background and Aims: Mycobacterium leprae is an obligate intracellular pathogen. Ligand-binding is an important factor in the success of chemoprevention and chemotherapy. A new drug that can inhibit M. leprae binding to and activation of, ErbB2 and Erk1/2 in primary Schwann cells is the new therapeutic option. However, the ligand-binding pattern of ErbB2 has never been clarified. Methods: In this work, the author performed a ligand-binding prediction for ErbB2 using a new bioinformatics tool. Results: According to this study, nine strong possible ligands can be identified. Conclusion: These sites can be useful for further drug-development studies.

Background: Toxic epidermal necrolysis (TEN) is a drug induced acute life threatening condition with mortality ranging from about 15 to 60%. A 'severity of illness' score termed as SCORTEN has been developed to predict mortality in TEN cases at the time of admission. It is calculated by giving one point for each of predetermined seven variables, evaluated during first 24 hours of admission. Total score ranging from 1-7 predicts a probability of mortality from 0.03 to 0.90. Aim: A prospective study was conducted to analyze efficacy of 'SCORTEN' in TEN cases to predict mortality during their management. Methods: All cases of TEN reporting for management to the hospital were assessed using 'SCORTEN' on day one and day five to predict probable mortality, this data was then compared with ultimate outcome. Results: During the study period, we treated 10 cases of TEN, all induced by drugs, patient's age ranging from 03 to 70 years and body surface area (BSA) involvement from 10 to 95%. Three cases succumbed to death. These cases were analyzed with SCORTEN to predict probability of mortality at the time of admission and day five. We encountered some variations from the original study. It was observed that if patients are analyzed with SCORTEN on a daily/alternate day basis, it will serve as a better predictor of mortality. Conclusion: Body surface area (BSA) involvement and age probably need more weightage in calculations. Besides malignancy, tuberculosis and pre-existing diabetes also need to be included while predicting mortality.

We report a 3-year-old girl born with fair complexion which became darker. The color change was insidious in onset at the age of 5 months, asymptomatic and progressive involving the entire body surface. Histopathology revealed increased pigmentation of the epidermal basal layer. Universal acquired melanosis is a rare form of hypermelanosis which was synonymously referred to as "Carbon baby". This is a rare presentation with only one earlier case report.

Solitary mastocytoma is known to occur predominantly in children below 2 years of age and onset in adulthood is rare. Lesions are hyperpigmented in the majority of cases owing to the stimulation of melanin synthesis by mast cell growth factor. We hereby report two patients with adult onset solitary mastocytoma presenting as hypopigmented plaque. The first case was a 24-year-old man who presented with a plaque on the back of the neck of 5 years duration. The second case was a 30-year-old man who had a well-defined solitary, oval 3 x 2.5 cm plaque on the nape of the neck. Stroking of lesion resulted in a wheal with flare (Darier's sign) in both cases. Systemic examination was within normal limits in both cases. Histopathology revealed a dense toluidine blue-positive infiltrate of mast cells in the upper dermis in both cases.

Three cases are described in whom deposits of depot steroids were seen in skin biopsies done for diagnostic purposes. In the first case the skin lesion was clinically suspected to be due to the steroid injected more than a year ago and a diagnosis of pseudo-morphea due to steroid injection was made by the clinician. The other cases had clinical diagnoses of dermatofibroma and morphea with no clinical suspicion of previous steroid injection. The steroid deposits were present in the subcutaneous fat in all three cases. Histologically the findings were distinctive with collections of acellular, amorphous, fuzzy basophilic material surrounded by lipophages and disrupted adipocytes (in Case 2) and without any significant inflammatory infiltrate or granulomatous reaction (in Cases 1 and 3). The absence of inflammatory and granulomatous responses were the findings at variance with the cases described earlier in the literature.

Erythromelanosis follicularis faciei et colli (EFF) is an unusual condition characterized by the triad of hyperpigmentation, follicular plugging and erythema of face and neck. This is less common in women and familial case reports are few. We report EFF in three siblings in an Indian family, two of whom are females. The possibility of this condition being genetically related to keratosis pilaris as well as being a variant of keratosis rubra pilaris is also discussed.

Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy. A seven-year-old boy presented with woolly hair and hyperkeratotic lesions on the palms and soles since birth. His cardiac status was evaluated and echocardiography revealed early cardiomyopathy. Scalp biopsy revealed hair shaft in an angulated outline suggestive of woolly hair. So the diagnosis of Naxos disease was made. Since he was asymptomatic no treatment was offered but a regular follow-up of the patient and treatment of emergent symptoms should prevent sudden death.

A 27-year-old female presented with pruritic keratotic papules over the left side of the face since one month. The lesions developed a few days after working in a hot humid environment and were preceded by severe uncontrollable pruritus for which she had repeatedly wiped the area with handkerchiefs and towels. A biopsy from one of the keratotic papules revealed granular parakeratosis with a markedly thick stratum corneum that had parakeratosis and also housed keratohyaline granules. Similar changes were seen in keratotic plugs of dilated follicular infundibula.

A 63-year-old male presented with an asymptomatic, slow-growing swelling on the right lower limb for the past one and half years. The histopathology revealed a lobular neoplasm with a biphasic pattern of spindle shaped cells and hemangiopericytoma like areas at the periphery of the lobule. The diagnosis of adult cutaneous myofibroma was made. This case highlights the importance of histopathology in reaching a definitive diagnosis.

Background: The study and assessment of oxidative stress plays a significant role in the arena of leprosy treatment. Once the presence of oxidative stress is proved, antioxidant supplements can be provided to reduce tissue injury and deformity. Aim: To study oxidative stress in paucibacillary (PB) and multibacillary (MB) leprosy and to compare it with that in a control group. Methods: Fifty-eight untreated leprosy patients (23 PB and 35 MB cases) were studied and compared with 58 healthy controls. Superoxide dismutase (SOD) level as a measure of antioxidant status; malondialdehyde (MDA) level, an indicator of lipid peroxidation; and MDA/SOD ratio, an index of oxidative stress were estimated in the serum. Results: The SOD level was decreased in leprosy patients, especially in MB leprosy. The MDA level was increased in PB and MB leprosy. The MDA/SOD ratio was significantly elevated in MB patients. There was a steady increase in this ratio along the spectrum from tuberculoid to lepromatous leprosy (LL). Conclusion: There is increased oxidative stress in MB leprosy, especially in LL. This warrants antioxidant supplements to prevent tissue injury.

Two hundred patients (112 males and 88 females) with cutaneous drug eruption were studied. The aim was to recognize the offending drug, to evaluate mortality and morbidity, educate the patient and avoid self-administration and readministration of drugs. Fixed drug eruption was the commonest reaction, seen in 61 patients; other reactions being urticaria and angioedema, morbilliform rash in 37, pruritus in 25, Stevens Johnson Syndrome (SJS) in 6, purpura in 6, exfoliative dermatitis in 5, photosensitivity in 5, toxic epidermal necrolysis in 2, acneiform eruption in 3, erythema multiforme in 2. Maximum patients belonged to the age group 41-50, followed by 21-30 and 31-40 years. The youngest was 1 year old and the oldest was 80 years old. Period of development of lesion after intake of drug varied from 1 day to 45 days. Cotrimoxazole was the commonest drug, in 26 cases; followed by Ibuprofen in 20 cases.

Genital involvement in porokeratosis (PK) is a rare occurrence even in disseminated forms. We encountered three patients who had porokeratosis affecting only the genital area. Two of them were male with involvement of the penis and scrotum and only the scrotum respectively. The lady with vulvar involvement is a hitherto unreported instance of porokeratosis confined to female genitalia. None of the cases were very easy to diagnose clinically but biopsies proved confirmatory. The male patients were advised light electrocautery under local anesthesia while the female patient underwent surgical excision. No malignant change has been reported in them till date.