Albinism: epidemiology,genetics, cutaneous characterization,psychosocial factors

Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.     

Pemphigus, pregnancy, and plasmapheresis

Pemphigus vulgaris (PV) is an autoimmune blistering disorder that usually occurs in the fifth and sixth decades of life but may occur at younger ages and during pregnancy. Circulating intercellular antibodies directed at desmosomal proteins may cross the placenta and place children at risk for neonatal pemphigus (NP). We describe the case of a pregnant woman with PV treated successfully with a combination of systemic corticosteroids and plasmapheresis. The possibility of PV should be considered in any pregnant woman with a worsening, widespread, mucocutaneous, blistering disease. Plasmapheresis offers a useful alternative to immunosuppressive therapy in the setting of pregnancy.     

Voriconazole-associated periostitis: Pathophysiology,risk factors,clinical manifestations,diagnosis, and management

Voriconazole use has been associated with osteoarticular pain and periostitis, likely due to high fluoride content in the drug formulation. This phenomenon has been described primarily with high dosage or prolonged course of voriconazole therapy in immunocompromised and transplant patient populations. Patients typically present with diffuse bony pains associated with elevated serum alkaline phosphatase and plasma fluoride levels in conjunction with radiographic findings suggestive of periostitis. We provide a comprehensive review of the literature to highlight salient characteristics commonly associated with voriconazole-induced periostitis.     

Porokeratosis plantaris, palmaris, et disseminata

We describe a 73-year-old woman with a long-standing history of annular, hyperkeratotic papules that began on the palms and soles and gradually spread to her trunk, extremities, and face. The clinical presentation and biopsy findings were consistent with PPPD, which is a rare subtype of porokeratosis that begins on the palms and soles and gradually spreads to the trunk and extremities. Owing to the risk of malignant degeneration in porokeratosis, patients should be closely monitored with total body skin examinations. There is no definitive treatment for PPPD. Oral retinoids are sometimes helpful although relapses are common after discontinuation of therapy.     

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.     

Effects of bepotastine, cetirizine, fexofenadine, and olopatadine on histamine-induced wheal-and flare-response, sedation, and psychomotor performance

Although many antihistamines are now in clinical use, few studies directly compare their pharmacodynamic and sedative activities in humans in vivo. We designed a double-blind, placebo-controlled, crossover study to compare the inhibitory effects of bepotastine, cetirizine, fexofenadine, and olopatadine on histamine-induced flare-and-wheal response. Systemic sedative effects and impaired psychomotor activities by these drugs were also evaluated. Bepotastine (10 mg twice a day), cetirizine (10 mg once a day), fexofenadine (60 mg twice a day), and olopatadine (5 mg twice a day) or placebo was given in a double-blind manner to seven healthy volunteers before histamine challenge by iontophoresis. At 0, 1, 2, 4, 8, 12, and 24 h following the oral administration of these drugs, histamine iontophoresis-induced wheal-and-flare response was measured. Sedative effects by the drugs were also evaluated by a visual analogue scale for subjective sedation, and by word processor test for psychomotor activity. Each volunteer was tested with all of the drugs (including placebo), administered in a random order with a washout period of at least 1 week. Histamine iontophoresis induced marked wheal-and-flare response in all participants. Bepotastine, cetirizine, fexofenadine, and olopatadine yielded significant reduction of histamine-induced wheal-and-flare response compared to placebo (P < 0.01). Among the drugs, olopatadine and cetirizine suppressed most markedly and persistently histamine-induced wheal-and-flare response, while bepotastine and fexofenadine produced a significant, but less persistent suppression. Olopatadine, fexofenadine, and cetirizine showed a significant systemic sedative effect in this order with bepotastine showing the least sedative effect. Moreover, olopatadine affected psychomotor performance most markedly, which was followed by fexofenadine and cetirizine. These results indicate that bepotastine, cetirizine, fexofenadine, and olopatadine inhibit histamine-induced wheal-and-flare response of humans in vivo and induce a variable systemic sedative effect and impaired psychomotor activity. Although olopatadine and cetirizine showed the strongest and most persistent suppression of histamine-induced wheal-and-flare response, olopatadine showed a considerable sedative effect with impaired psychomotor performance.     

Adipokines,psoriasis, systemic inflammation,and endothelial dysfunction

Adipokines are secreted by white adipose tissue, an active endocrine organ, and play a role in the regulation of metabolic functions such as lipid metabolism, inflammation, and vascular homeostasis. Adipokines are secreted in excess in obesity and contribute to the development of associated comorbidities such as metabolic syndrome and atherosclerosis. Psoriasis, a chronic immune‐mediated skin disease, is associated with obesity and increased cardiovascular risk. Understanding the role of adipokines in psoriasis may in part explain the association between psoriasis and cardiovascular disease. This review summarizes the data regarding key adipokines in patients with psoriasis and the change in adipokine profiles with psoriasis therapy. Adipokines may be mediators of cutaneous inflammation suggesting a role in the pathophysiology of psoriasis and the development of comorbidities.     

Patch test sensitization to Compositae mix, sesquiterpene-lactone mix, Compositae extracts, laurel leaf, Chlorophorin, Mansonone A, and dimethoxydalbergione.

BACKGROUND: Compositae mix and sesquiterpene-lactone (SL) mix are important patch test substances to show allergic contact dermatitis from various Compositae plants. OBJECTIVES: The aims of this study are to calculate the sensitization rates to Compositae mix and SL mix in an occupational dermatology clinic and to describe cases of active sensitization caused by patch testing with Compositae mix and SL mix. METHODS: Conventional patch testing was performed. SL mix (0.1%) and Compositae mix (6% in petrolatum) were tested in a modified European standard series and a plant allergen series. Testing with other appropriate patch test series was also performed. RESULTS: SL mix provoked 8 allergic patch test reactions (0.7%) in 1,076 patients, whereas Compositae mix was positive in 15 of 346 patients (4.2%). Three patients were actively sensitized to Compositae mix and 1 patient to SL mix. One patient was also sensitized to other plant allergens in a series of allergenic plant chemicals, namely to Mansonone A, an ortho-quinone; (R)-3,4-dimethoxydalbergione, a quinone; and Chlorophorin, a hydroxy stilbene. Allergic patch test reactions to laurel leaf were caused by cross-sensitization to SLs. CONCLUSION: Compositae mix seems to be a more important patch test substance than SL mix to detect allergic contact dermatitis to Compositae plants, but patch testing may sensitize. The concentration of the individual components of the Compositae mix should be adjusted so that the mix detects allergic patients but does not sensitize.     

Diaper Dermatitis: Etiology,Manifestations, Prevention,and Management

Pediatricians and parents report diaper dermatitis (DD) to be one of the most common skin diseases that affects almost every child at some point during the early months and years of life. Diapered skin is exposed to friction and excessive hydration, has a higher pH than nondiapered skin, and is repeatedly soiled with feces that contains enzymes with high irritation potential for the skin. The combination of these factors frequently results in skin damage, leading to visible erythematous lesions that can be irritating and painful to the child. Behavioral changes such as increased crying and agitation and changes in eating and sleeping patterns indicate emotional distress. Appropriate skin care can help to prevent the occurrence of DD and to speed up the healing of affected skin. This includes frequent diaper changes and aeration, gentle cleansing, and the use of a barrier cream. Mild to moderate cases usually resolve after a few days of following this routine, but the use of harsh cleaning products can exacerbate DD.     

Melanoma: epidemiology, diagnosis, treatment, and outcomes

Melanoma is a skin cancer that arises from the malignant transformation of melanocytes. Although it is typically considered a pigmented lesion, the clinical presentation of melanoma can vary greatly. With increased efforts in screening and detection of early-stage melanoma, researchers and clinicians hope to improve clinical outcomes for patients with melanoma. Novel immunotherapies directed at specific molecular targets in the pathogenesis of melanoma usher in a new era of treatment of advanced melanoma.     

Traditions, anthrax, and children

Anthrax is sporadically seen in Turkey, especially among people who live in rural areas and who come in contact with animals. Two siblings with cutaneous anthrax are described in this report. A week before their admission to the hospital, contaminated cow's blood was smeared on their foreheads as part of a traditional ritual. Both children were successfully treated with crystalline penicillin. In developing countries, traditions such as blood smearing may be an important factor in the transmission of anthrax to children.     

艾滋病患者外周血单个核细胞DNA的提取方法

目的：为了完整地获得艾滋病患者或感染者外周血单个核细胞中的ＤＮＡ分子，以适应其分子流行病学研究的需要。方法：分离外周血单个核细胞，采用尿素－十二烷基硫酸钠裂解缓冲液破碎细胞，经酚、氯仿、异戊醇等抽提蛋白、乙醇沉淀核酸等步骤提取ＤＮＡ样品。结果：样品中ＤＮＡ含量较高，结构稳定，聚合酶链反应扩增效果良好。结论：本法提取的ＤＮＡ样品适合于基因扩增和分子克隆，为艾滋病的早期诊断和进一步研究奠定基础     

Fractionation: past, present, future

The development of fractional photothermolysis is a milestone in the history of laser technology and cutaneous resurfacing. Based on the concept that skin is treated in a fractional manner, where narrow cylinders of tissue are thermally heated and normal adjacent skin is left unaffected, the fractional devices have shown effectiveness in treating a variety of conditions. Since its development, we are becoming more adept at using optimal parameters to induce near carbon dioxide laser benefits with a much more comfortable postoperative period and fewer complications. The future remains bright for fractionated laser devices and with new devices and wavelengths, the applications of this technology continue to grow.     

Chancroid,lymphogranuloma venereum,granuloma inguinale,genital herpes simplex infection,and molluscum contagiosum

Chancroid, lymphogranuloma venereum, and granuloma inguinale may be considered as tropical venereal diseases. These diseases were a major diagnostic and therapeutic challenge in past centuries. Currently, patients with these bacterial infections that are endemic to the tropics occasionally consult with dermatologists in temperate climates. Due to the increasing frequency of travel to the tropics for tourism and work, as well as the increasing number of immigrants from these areas, it is important for dermatologists practicing in temperate climates to be familiar with the dermatologic manifestations of such infections, to be prepared to diagnose these diseases, and to treat these patients. All three “tropical” infections respond well to prompt and appropriate antimicrobial treatment, although herpes progenitalis still cannot be cured, and the number of people infected keeps growing; moreover, genital herpes can be transmitted by viral shedding before and after the visual signs or symptoms. Acyclovir, valacyclovir, and famciclovir can shorten outbreaks and make them less severe or even stop them from happening. There is currently no etiologic treatment for molluscum contagiosum, and the majority of treatment options are mechanical, causing a certain degree of discomfort. The molluscum contagiosum virus, unlike the other infectious agents mentioned, does not invade the skin.     

Cutaneous porphyrias part I: epidemiology,pathogenesis, presentation,diagnosis, and histopathology

The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. With advances in DNA analysis, researchers are discovering the underlying genetic causes of the porphyrias, enabling family members to be tested for genetic mutations. Here we present a comprehensive review of porphyria focusing on those with cutaneous manifestations. In Part I, we have included the epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Treatment and management options will be discussed in Part II.     

Pitted keratolysis,erythromycin, and hyperhidrosis

Pitted keratolysis (PK) is a plantar skin disorder mainly caused by coryneform bacteria. A common treatment consists of the topical use of erythromycin. Hyperhidrosis is considered a predisposing factor for bacterial proliferation and, consequently, for the onset of PK. The aim of this study was to evaluate the relationship between PK erythromycin and hyperhidrosis. All patients with PK seen in Sant'Andrea Hospital, between January 2009 and December 2011, were collected. PK was clinically and microscopically diagnosed. All patients underwent only topical treatment with erythromycin 3% gel twice daily. At the beginning of the study and after 5 and 10 days of treatment, a clinical evaluation and a gravimetric measurement of plantar sweating were assessed. A total of 97 patients were diagnosed as PK and were included in the study. Gravimetric measurements showed that in 94 of 97 examined patients (96.90%) at the time of the diagnosis, there was a bilateral excessive sweating occurring specifically in the areas affected by PK. After 10 days of antibiotic therapy, hyperhidrosis regressed together with the clinical manifestations. According to these data, we hypothesize that hyperhidrosis is due to an eccrine sweat gland hyperfunction, probably secondary to bacterial infection.     

Cleansing, moisturizing, and sun-protection regimens for normal skin, self-perceived sensitive skin, and dermatologist-assessed sensitive skin

ABSTRACT:  Acquiring or maintaining healthy skin requires a multifunctional approach: mild cleansing, moisturizing, and sun protection. The clinical benefits of a daily, healthy facial skin-care regimen comprising a mild cleanser and moisturizer were evaluated on normal skin, self-perceived sensitive skin, and dermatologist-assessed sensitive skin for a period of up to 4 weeks. Subjects with normal, healthy skin were photographed with a calibrated, high-resolution digital camera, and the average improvement in overall health was calculated using image morphing and facial averaging techniques, following a 2-week period of product application. In a second study that included subjects with self-assessed sensitive facial skin, changes in skin hydration, skin dryness, and skin sensitivity (determined by means of a lactic acid sting test and subject self-assessment) were monitored during a 3-week regimen of mild cleansing and moisturizing with products designed for sensitive skin. The third study involved dermatologist-assessed highly sensitive skin patients (mostly rosacea with an atopic background in some cases). These patients underwent a 4-week skin-care regimen involving mild cleansing and moisturizing. In all three studies, significant improvements in skin health/quality were observed by means of expert assessments, instrumental evaluations, and subjective self-assessment.     

Bacillary angiomatosis: a newly characterized, pseudoneoplastic, infectious, cutaneous vascular disorder

Bacillary angiomatosis (also called epithelioid angiomatosis) is a newly recognized disease most often characterized by a cutaneous infection with reddish papules of vascular origin. It is caused by a weakly reactive gram-negative bacillus, which can be easily demonstrated in tissue sections with the Warthin-Starry stain. Bacillary angiomatosis usually responds readily to treatment with oral erythromycin, 250 to 500 mg, taken four times a day for 2 weeks to 1 month. Because the skin is the most common site of involvement, it is important that the dermatologist recognize this unusual condition. It is essential that treatment be started as soon as possible because deaths may result from visceral and mucosal involvement. The clinical, histologic, and microbiologic aspects of bacillary angiomatosis are discussed and depicted in detail and speculations regarding the pathogenesis are rendered.     

Cleansing, moisturizing, and sun-protection regimens for normal skin, self-perceived sensitive skin, and dermatologist-assessed sensitive skin

Acquiring or maintaining healthy skin requires a multifunctional approach: mild cleansing, moisturizing, and sun protection. The clinical benefits of a daily, healthy facial skin-care regimen comprising a mild cleanser and moisturizer were evaluated on normal skin, self-perceived sensitive skin, and dermatologist-assessed sensitive skin for a period of up to 4 weeks. Subjects with normal, healthy skin were photographed with a calibrated, high-resolution digital camera, and the average improvement in overall health was calculated using image morphing and facial averaging techniques, following a 2-week period of product application. In a second study that included subjects with self-assessed sensitive facial skin, changes in skin hydration, skin dryness, and skin sensitivity (determined by means of a lactic acid sting test and subject self-assessment) were monitored during a 3-week regimen of mild cleansing and moisturizing with products designed for sensitive skin. The third study involved dermatologist-assessed highly sensitive skin patients (mostly rosacea with an atopic background in some cases). These patients underwent a 4-week skin-care regimen involving mild cleansing and moisturizing. In all three studies, significant improvements in skin health/quality were observed by means of expert assessments, instrumental evaluations, and subjective self-assessment.     

Psoriasis: depression,anxiety, smoking,and drinking habits

Psoriasis is a chronic disease that can negatively impact many aspects of quality of life. Patients with psoriasis may suffer from pain and discomfort from the disease as well as psychological and social difficulties including stigmatization, embarrassment, and social inhibition. Anxiety, depression, smoking, and alcohol abuse have been found to have a higher prevalence among psoriasis patients than healthy controls. These comorbidities have also been found to have a directly negative impact on psoriasis. Awareness of the relationship between psoriasis, psychiatric disorders, and substance abuse is important for dermatologists, as these comorbidities can lead to poor compliance and treatment outcomes.