RASopathies: Dermatologists' viewpoints.

Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-recognized RASopathies. These are characterized by multi-organ tumours and hamartomas. Some other features in common are facial dysmorphism, skeletal abnormalities, congenital heart disease, neurocognitive abnormalities and risk of various solid-organ and haematological malignancies. Some of the RASopathies are heterogeneous, caused by several gene mutations resulting in variations in phenotypes and severity ranging from mild to fatal. Significant phenotypic overlaps among different disorders, often makes it difficult to pinpoint a clinical diagnosis. Specific cutaneous manifestations are present in some of the RASopathies and are often the earliest clinical signs/symptoms. Hence, dermatologists contribute significantly as primary care physicians by identifying disorder-specific cutaneous lesions. However, diagnostic work-up and management of these disorders are often multidisciplinary. Confirmation of diagnosis is possible only by genetic mapping in each case. Genetic counseling of the patients and the affected families is an important component of the management. The aim of this review is description of cutaneous manifestations of RASopathies in the background of multi-system involvement to enable dermatologists a comprehensive and logical approach to work up and diagnose such patients in the absence of facility for specific molecular testing.

Anticoagulants in dermatology.

Anticoagulants are the cornerstone of treatment of venous thromboembolism associated with various medical conditions and surgical procedures. They act on different steps of the coagulation pathway and are broadly categorized into heparins, vitamin K antagonists, and inhibitors of thrombin and factor Xa. The classification is evolving as newer and better oral and parenteral anticoagulants are being added. Anticoagulants in dermatology are important not only for their therapeutic application in cutaneous thrombotic dermatoses such as livedoid vasculitis, purpura fulminans, superficial and deep venous thrombosis and others but also for their use in non-thrombotic dermatoses such as lichen planus, recurrent oral aphthosis, chronic urticaria and several others. Further, the use of anticoagulants for any indication is associated with various adverse effects with dermatologic manifestations including specific reactions such as warfarin-induced skin necrosis, heparin-induced thrombocytopenia and anticoagulant-associated cholesterol embolization syndrome.

Childhood leprosy in India over the past two decades.

OBJECTIVES: Clinico-epidemiological pattern of childhood leprosy in India over the past two decades were analysed from the Indian studies conducted during the years 1990-2009. RESULTS: Twelve studies on childhood leprosy were included. Ten were conducted in health institutions and one was a community-based survey. Voluntary reporting was the principal method of case detection; community survey was adopted in two studies. Occurrence of childhood leprosy in tertiary care hospitals varied from 5.1-11.43%, in one urban clinic and the three leprosy referral hospitals it was 9.81-31.3% and peripheral surveys recorded 7.06-35.5% cases. History of familial contact was present in 0.66-47% cases. Borderline tuberculoid was the commonest clinical type, majority with single lesion. Other types were indeterminate (3.48-10.1%), borderline lepromatous (1.9-19.4%), lepromatous (0.1 to 9.38%), and pure neuritic (3.48-10.1%). Single peripheral nerve trunk was involved in 13.63-40-62% cases and multiple nerve involvement was recorded in 4.54-59.38% cases. The majority of cases were paucibacillary (43.28-98%). Multibacillary (MB) cases ranged from 2-56.6%. Slit-skin smear positive cases ranged from 5.42-25%. Lepra reactions occurred in 0-29.7% cases. Relapse rate varied between 1.16-7.1%. Deformity occurred in 0-24% cases. CONCLUSIONS: Multibacillary cases were common among Indian children, some of whom were smear positive. Probably these cases were the source of many new cases. Pure neuritic leprosy was frequent among Indian children, so also the lepra reactions and deformities. The presence of familial and extra-familial contact with leprosy cases may be a cause of concern, as it implies continuing transmission of the disease.

Childhood leprosy in the post-elimination phase: data from a tertiary health care hospital in the Karnataka state of south India.

OBJECTIVE: Children with leprosy attending a tertiary care hospital during the post-elimination period, in the Karnataka state of south India, have been studied. Data on childhood leprosy collected by the field health workers from district leprosy office during the same period through community survey was also analysed. RESULTS: In the hospital, 61 new childhood cases were diagnosed, 19.7% of the total leprosy cases (n = 309) examined during that period. Borderline tuberculoid leprosy was the commonest presentation in children. Twenty four (39.34%) were paucibacillary and 37 (60.65%) were multi-bacillary. Positive slit skin smear was obtained in 8.19%. Household contacts were identified in 18.2%. Reactions were seen in 16.4% (type 1 and 2) and 8.19% children had visible deformity. Analysis of the data collected by the field health workers showed 223 (21.25%) childhood cases (paucibacillary 69.50% and multi-bacillary 30.49%). Type 1 reaction was recorded in 4.93%. Deformities were seen in 5.82%, and 1.79% had WHO Grade 2 deformities. CONCLUSION: More multi-bacillary cases were recorded in the hospital as compared to higher number of pauci-bacillary cases by the community survey. Cases with reactions and deformities were also higher in hospital. Type 2 reaction was not recorded in community survey and WHO Grade 2 deformities were low. Patients with more severe disease might have attended the hospital by choice, resulting in the difference in data. The results indicate that transmission of leprosy is continuing in India even in this state with low endemicity. Presence of household contacts, children with multi-bacillary disease and smear positivity in childhood cases are the aspects requiring special attention.

Sensitive skin: an overview.

Sensitive skin is less tolerant to frequent and prolonged use of cosmetics and toiletries. It is self-diagnosed and typically unaccompanied by any obvious physical signs of irritation. With the change in lifestyle and also with increased opportunity to use many new brands of cosmetics and toiletries, there has been an increase in females complaining of unique sensation in their facial skin. Sensitive skin presents as smarting, burning, stinging, itching, and/or tight sensation in their facial skin. The condition is found in more than 50% of women and 40% of men, creating a sizable demand for products designed to minimize skin sensitivity. Good numbers of invasive and non-invasive tests are designed to evaluate and predict the sensitive skin. Management includes guidelines for selecting suitable cosmetics and toiletries in sensitive skin individuals.

Nails: diagnostic clue to genodermatoses.

Nails are cutaneous appendages mostly involved in mechanical functions. However, nails may reflect presence of various systemic disorders evidenced by alteration of their shape, size, color or texture. Genodermatoses are multisystem disorders with cutaneous involvement. Many of the genodermatoses present with nail changes and some of these may be the clinical pointers to the diagnosis. Diagnostic clues to various genodermatoses derived from nail findings have been discussed.

Childhood vitiligo.

Childhood vitiligo is often encountered in dermatological practice. When present in infancy or early childhood, various nevoid and hereditary disorders are to be differentiated. In many cases, familial aggregation of the disease is seen and other autoimmune disorders may be associated. Segmental presentation is more common, and limited body surface area involvement is usual in this age group. Children with vitiligo often suffer from anxiety and depression because of their unusual appearance. Management of vitiligo in children is difficult as therapeutic options are restricted when compared to that in adult patients. Selection of treatment should be careful in these patients with the aim to achieve best results with minimal side effects as well as relieving patients' and parents' anxiety.

Current concepts in the management of bacterial skin infections in children.

Bacterial skin infections in children vary widely clinically, starting from mild superficial folliculitis to deep necrotizing fasciitis. The causative organisms are mostly Staphylococcus aureus and Streptococcus, with occasional involvement of Gram-negative organisms. Treatment of even the milder forms of bacterial skin infections is of importance because of the long-term morbidity associated with them. However, because of global emergence of resistant strains of bacteria, treatment of these conditions is becoming increasingly difficult. The current antibacterial resistance patterns in organisms causing skin and soft tissue infections and the problems encountered in their management in children have been discussed.

Neonatal dermatological emergencies.

The neonates are unique in several ways in comparison with older children and adults which render them highly susceptible to severe, sometimes life threatening dermatological disorders. The neonatal dermatological emergencies are a diagnostic and therapeutic challenge. A wide range of dermatoses such as infections, genodermatoses, metabolic disorders and vascular tumors may require emergency care. The clinical presentation also varies from generalized involvement of skin to localized disease with or without systemic symptoms. Irrespective of the etiology and clinical presentation, these disorders are associated with significant morbidity and mortality. With the availability of effective drugs and monitoring facilities, and awareness of need for immediate care, there has been a significant decline in the fatality rate associated with neonatal dermatological emergencies. Knowledge of clinical presentations, rapid diagnostic methods, emergency care and monitoring of progress of the disease helps in comprehensive multidisciplinary care of neonates with these disorders.

Clinicopathological study of itchy folliculitis in HIV-infected patients.

BACKGROUND: Itchy folliculitis are pruritic, folliculo-papular lesions seen in human immunodeficiency virus (HIV)-infected patients. Previous studies have shown that it was impossible to clinically differentiate between eosinophilic folliculitis (EF) and infective folliculitis (IF). Also, attempts to suppress the intense itch of EF were ineffective. AIMS: The present study is aimed at correlating clinical, histopathological and immunological features of itchy folliculitis in HIV patients along with their treatment. METHODS: The present prospective study lasted for 36 months (September, 2005 to August, 2008) after informed consent, data on skin disorders, HIV status and CD4 count were obtained by physical examination, histopathological examination and laboratory methods. RESULTS: Of 51 HIV-positive patients with itchy folliculitis, the predominant lesion was EF in 23 (45.1%) followed by bacterial folliculitis in 21 (41.2%), Pityrosporum folliculitis in five (9.8%) and Demodex folliculitis in two (3.9%) patients. The diagnosis was based on characteristic histopathological features and was also associated with microbiology confirmation wherever required. EF was associated with a lower mean CD4 count (180.58 +/- 48.07 cells/mm3, P-value < 0.05), higher mean CD8 count (1675.42 +/- 407.62 cells/mm3) and CD8/CD4 ratio of 9.27:1. There was significant reduction in lesions following specific treatment for the specific lesion identified. CONCLUSION: Clinically, it is impossible to differentiate itchy folliculitis and therefore it requires histopathological confirmation. Appropriate antimicrobial treatment for IF can be rapidly beneficial. The highly active antiretroviral therapy along with Isotretinoin therapy has shown marked reduction in the lesions of EF. Familiarity with these lesions may help in improving the quality of lives of the patients.

Nephrogenic fibrosing dermopathy.

An adult female patient on hemodialysis for chronic renal failure presented with large, brownish, and indurated plaques with bound-down skin on both lower limbs and abdomen along with difficulty in movement of the legs. Histopathological features revealed thick collagen bundles admixed with mucin and intercalating spindle-like cells characteristic of nephrogenic fibrosing dermopathy (NFD). Immunohistochemical study showed prominent CD68 positivity and weak CD34 positivity suggesting that the plaques were more than 20-weeks old. NFD in patients with chronic renal failure of unknown cause is a poor prognostic indicator. Early detection before the development of contracture and prompt treatment of NFD and underlying renal failure may reverse this disabling condition.