Female pseudohermaphroditism: Congenital adrenal hyperplasia presenting with diffuse hyperpigmentation

The term congenital adrenal hyperplasia [CAH] comprises a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. The clinical presentation varies according to chromosomal sex. The sex of neonate with CAH is often initially unclear because of genital ambiguity. We report a case of 25-year-old phenotypically male, presenting with generalized hyperpigmentation for 5 years and occasional syncope for 1 year. On examination there were sparse axillary and pubic hair with ambiguous genitalia. 46XX karyotype, hypoplastic uterus on CT scan and elevated ACTH and 17-hydroxyprogesterone levels lead to the diagnosis of female pseudohermaphroditism due to congenital adrenal hyperplasia and patient was started on glucocorticoids and fludrocortisone by endocrinologist and was also referred to plastic surgeon

Factors affecting dermatological manifestations in patients with end stage renal disease

Objective: To determine skin changes in patients of End Stage Renal Disease [ESRD] on maintenance hemodialysis [MHD] and factors affecting these changes

Study design: Cross-sectional observational study

Place and duration of study: Nephrology Department, Mayo Hospital, Lahore in collaboration with Dermatology Department, King Edward Medical University, Lahore, from October 2015 to January 2016

Methodology: Two hundred patients who were undergoing MHD for more than three months were included in the study. Patients' demographic data, laboratory reports and dialysis records were noted in a predesigned questionnaire. Skin examination was carried out by consultant dermatologist after patient's permission

Results: Among 200 patients included in study, 105 were malesand rest of them were females. Major causes of ESRD were Diabetes Mellitus [n=83, 41.5%, followed by Hypertension [n=80, 40%], Nephrolithiasis [n=15, 7.5%] and Chronic glomerulonephritis [n=5, 2.5%]. At least one cutaneous finding was present in every patient. Common skin findings observed were pigmentation [86%], xerosis [83%], pallor [79%], pruritus [69%], acquired ichthyosis [50.5%], and bacterial skin infections [18.5%]. Among them, nail manifestations were half-and-half nails [52%], onychomycosis [30.5%], onycholysis [20.5%], subungual hyperkeratosis [23.5%], and Mee's lines [7.5]. Among hair changes were sparse scalp hair [38.5%], brittle and lustreless hair [28%]. The factors contributing to skin changes were patient's age, cause of ESRD, anti HCV positivity, high urea and creatinine levels, duration and frequency of hemodialysis, hemoglobin levels, calcium phosphate product and socioeconomic status. Some skin manifestations were interrelated with each other like xerosis with pruritus [p<0.001], pruritus with bacterial infection [p<0.022], acquired Ichthyosis [p=0.008] and hair changes [p=0.035]

Conclusion: ESRD patients on hemodialysis develop various skin changes during the course of disease process, which contribute to increased morbidity. Different factors affecting skin changes were the cause of ESRD, adequacy and duration of dialysis, employment, financial status, anti HCV positivity, and metabolic factors

Skin disorders in patients with primary psychiatric conditions

Objective To determine the frequency of skin dermatosis in patients with primary psychiatric conditions.

Methods This cross-sectional study was conducted in the Fountain House, Lahore, which is a tertiary care center for psychiatric patients having indoor and outdoor facility. All the admitted psychiatric patients [294] were enrolled in the study. They were thoroughly examined for any skin dermatosis. Out of 294, skin disorders were seen in 172 [58.5%] patients, 89 [60.6%] males and 58 [39.4%] females. The most common primary psychiatric conditions was schizophrenia 47.5% followed by patients of substance abuse 26.5%, bipolar disorder 13.1%, depression and psychosis each in 8.2%. 2.7% patients were manic. Of the study group, 16.3% patients had infective dermatoses and the rest had noninfective dermatoses. A high incidence of generalized xerosis and pruritus was seen in both males and females. Among noninfective dermatoses, 10.1% had eczema, 6.2% acne, 5% melasma, 4.1% palmoplantar keratoderma, 3.2% neurotic excoriations, 3.2% dermatitis artifacta, 2.7% trichotillomania, 2.1% miliaria, and 1.4% had ichthyosis.

Conclusion A high incidence of fungal infections mainly tinea versicolor and onychomycosis was seen in the patients with primary psychiatric conditions.

Familial frequency of vitiligo and its association with autoimmune disorders

To determine the familial frequency of vitiligo and its association with autoimmune disorders. This cross-sectional study was conducted in the Department of Dermatology, Mayo Hospital, Lahore. Hundred patients of vitiligo of any age and either sex, diagnosed on the basis of history and clinical examination were enrolled from the outpatient department. Patients were evaluated for familial frequency of vitiligo and its association with other autoimmune diseases by means of a specially designed proforma. Total number of vitiligo patients was 100. Family history of vitiligo was seen in 22% of cases. Associated autoimmune disorders were seen in 23% of cases and were mainly diabetes mellitus, autoimmune thyroid disease, alopecia areata and eczemas. This study reveals that generalized vitiligo is associated with other autoimmune disorders, showing similar genetic basis. Therefore it is important to evaluate as well as investigate, where necessary, vitiligo patients for other autoimmune disorders

Pulmonary tuberculosis in dermatological patients on high-dose, long-term steroid therapy

Tuberculosis is a chronic and serious infection if left untreated. Currently one third of the world population is infected with this bacillus. The immunosuppression due to glucocorticoids in patients with skin diseases may cause acquisition of primary tuberculosis and the reactivation of nonactive tuberculosis. This review focuses on risk involved, diagnosis and treatment in such patients

Neutral lipid storage disease-a case report

Neutral lipid storage disease is a rare autosomal recessive disorder characterized by non-bullous ichthyosiform erythroderma, liver steatosis, hepatosplenomegaly, cataracts, ataxia, bilateral sensorineural hearing loss, skeletal and cardiomyopathy, growth and mental retardation. We report a case of neutral lipid storage disease in a 14 months old child

Frequency of pulmonary tuberculosis in patients with skin diseases requiring high dose long-term systemic steroid therapy

To determine the frequency of pulmonary tuberculosis in patients with skin diseases requiring high dose long-term systemic steroid therapy. This cross-sectional study was conducted in the Department of Dermatology Unit-II, Mayo Hospital, Lahore. Newly diagnosed patients of skin disease were screened for tuberculosis and then followed up after 6 weeks, 3 months and 6 months to evaluate pulmonary tuberculosis while patients were on high dose systemic steroids. At each visit, history, examination and screening tests for tuberculosis were performed which included sputum smear for acid-fast bacilli [AFB], chest radiograph and sputum culture for AFB. Out of fifty patients, who were on high dose long-term systemic steroid therapy, four patients [8%] developed pulmonary tuberculosis after a period of three months [P= 0.0001]. Patients on high dose long-term systemic steroid therapy can develop pulmonary tuberculosis

Making personalized prostate cancer medicine a reality: challenges and opportunities in the re-establishment of gold standards

Prostate cancer is a serious multidimensional disorder that arises because of misrepresentation of signaling cascades and acquired resistance against apoptosis. It is progressively becoming more insurmountable because of rheostat like switching of oncogenic signaling in androgen dependent and androgen depleted microenvironment. Additionally, oncogenic fusion proteins have been explored in prostate cancer tissues thus adding another layer of complexity to the targeting of protein network in cancer cell and generate hurdles in the standardization of therapy. In this review we briefly describe identified oncogenic fusion transcripts in prostate cancer and suggest utilization of this biomarker for prostate cancer diagnosis along with standard PSA and immunohistochemistry analysis in Pakistan. We also provide overview of animal model studies to interpret the efficacy of vitamins

Squamous cell carcinoma on discoid lesions of systemic lupus erythematosus

Squamous cell carcinoma [SCC] is a rare late complication of chronic discoid lupus erythematosus [CDLE]. We report a case of SCC developing in lesions of CDLE in a 16-year-old girl suffering from SLE. A verrucous change or ulceration in lesions of CDLE should warrant a biopsy to rule out malignant transformation