AIMS: To report a severe adverse event related to enzyme replacement therapy with agalsidase in an hemizygous male patient treated for Fabry disease. METHODS: Retrospective analysis of clinical, radiological and biochemical data in a patient who suffered adverse events related to both agalsidase alfa and agalsidase beta treatments. RESULTS: A ...

Erythropoietic protoporphyria (EPP) is a rare hereditary disorder characterized by dermal accumulation of the photosensitizer protoporphyrin IX. Following sunlight exposure, the resulting photosensitivity is manifested first as pain, later as erythema, edema and dermal lesions. Afamelanotide (Nle(4)-D-Phe(7)-alpha-MSH), a synthetic analog of alpha-melanocyte stimulating hormone and agonist of the melanocortin-1-receptor, promotes ...

BACKGROUND: Direct immunofluorescence (DIF) of perilesional skin is the gold standard in the diagnosis of pemphigus. Since the outer root sheath (ORS) of anagen hair is structurally analogous to epidermal keratinocytes, pemphigus specific immunofluorescence pattern may be present in the ORS. METHODS: Twenty consecutive patients of pemphigus were enrolled in ...

BACKGROUND: Nephrogenic systemic fibrosis (NSF) affects some patients on dialysis after gadolinium contrast agent-enhanced magnetic resonance imaging. It is characterized by progressive skin fibrosis of the extremities, sometimes including the trunk and internal organs. METHODS: The clinical course of 10 patients with biopsy-proven NSF was analyzed retrospectively with regard to ...

BACKGROUND: Dermatitis herpetiformis is a chronic severely pruritic dermatosis. It is a cutaneous manifestation of celiac disease. The aim of our study was to collect clinical, histological and immunopathological data on patients who were treated in the University Departments of Dermatology in Würzburg and Lübeck from 1996 to 2008. PATIENTS ...

AIMS: The purpose of the current study is to evaluate the patients' entrance skin dose (ESD) during cardiac resynchronization therapy (CRT). METHODS AND RESULTS: Entrance skin doses were assessed during 16 CRT procedures. Seven of the 16 patients were upgrade of conventional pacemaker to CRT. The patients wore jackets which ...

The aim of this study was to examine changes in the skin over the feet of patients with diabetic foot syndrome after local application of a product containing hyperoxygenated fatty acids (HOFAs) by measuring transcutaneous oxygen. In 64 patients, transcutaneous oxygen pressure (TcPo(2)) was measured on days 0, 7, 30, ...

We describe 3 rheumatoid arthritis (RA) patients with anti-tumor necrosis factor (TNF) therapy-induced cutaneous vasculitis. Two cases were induced by infliximab and the other, in whom cutaneous vasculitis was found early at the start of therapy, was induced by etanercept. Skin biopsy was obtained in 2 patients, with histology-proven leukocytoclastic ...

We examined 32 patients for skin flap numbness around their scars after primary total knee arthroplasty (TKA). All 32 patients were reviewed six weeks following surgery and two years thereafter. The aims of our study were to determine the natural history of cutaneous sensory loss, to identify the relationship with ...

In a preliminary study in Juruti, a mining municipality in western Pará State, Brazil, 12 out of 21 patients suspected of presenting cutaneous leishmaniasis showed positive PCR (SSUrDNA and G6PD): Leishmania (Viannia) braziliensis (9/12; 75%) and L. (V.) sp. (3/12; 25%). Entomological studies in the same location revealed the presence ...

Diffuse dermal angiomatosis (DDA) is a reactive proliferation of vascular channels within the dermis often associated with atherosclerosis. Based on our observation of a case of calciphylaxis (CP) with extensive DDA, we investigated a new possible association and incidence of DDA in patients with CP. These 2 rare conditions had ...

BACKGROUND: Beta-thalassemia major affects multiple organs and is associated with considerable morbidity and mortality. The goal of this analysis was to document the frequency of skin diseases among patients with beta-thalassemia major. METHODS: A sample of 78 patients with beta-thalassemia major was recruited and interviewed at the thalassemia clinic between ...

BACKGROUND: Oral lichen planus is an inflammatory chronic disease with an autimmune pathogenesis and unknown etiology that affects oral mucosa, with or without the involvement of the skin and other mucous membranes. The principal histological characteristics are the degeneration of the basal cell layer and the abnormal infiltration of inflammatory ...

BACKGROUND: Desquamative gingivitis (DG) is a descriptive term used to indicate epithelial desquamation, erythema, erosions, and/or vesiculobullous lesions of the gingiva. DG is commonly associated with several mucocutaneous disorders and systemic conditions that may carry a poor prognosis and high morbidity; however, there are no clear data concerning the frequency ...

BACKGROUND: Exposure to fragrances is increasingly encountered in the environment. Some fragrances are known to be important skin and potential airway sensitizers. OBJECTIVES: We investigated whether patients with contact allergy to isoeugenol (ISO) or hydroxyisohexyl-3-carboxaldehyde (HICC) would react to inhalation exposure at the level of the airways and skin. METHODS: ...

BACKGROUND: Currently, assessment of dermal thickness in systemic sclerosis (SSc) is performed by palpation and assessment using the modified Rodnan skin score (mRSS). OBJECTIVE: To verify whether high frequency ultrasound (US) may be a reliable and a reproducible method to measure digital dermal thickness. METHODS: In 70 patients with SSc, ...

BACKGROUND: Numerous factors have been implicated in the pathogenesis of rosacea, which remains obscure. OBJECTIVES: To examine the epidemiological characteristics of rosacea patients, the histopathological alterations, the prevalence of gastric Helicobacter pylori infection and the role of ultraviolet radiation, to detect the presence of Demodex folliculorum on affected skin and ...

BACKGROUND: We previously reported the occurrence of myelitis in patients with atopic disorders (atopic myelitis [AM]). To uncover the spectrum of neural damage associated with atopy, we conducted a cross-sectional nationwide survey of AM and atopy-related peripheral neuritis (APN), including Churg-Strauss syndrome (CSS), in individuals with atopic diathesis. METHOD: Cases ...

BACKGROUND: Granulomatous dermatitis is a distinctive histopathologic cutaneous reaction pattern against various infectious and noninfectious agents. Cytologically, granulomatous dermatitis shows granulomas and multinucleated giant cells. Various etiologic agents of granulomatous diseases can also be identified. OBJECTIVE: We aimed to investigate Tzanck smear findings in granulomatous skin diseases. METHODS: Patients who ...

BACKGROUND: Human scalp skin is normally protected from sunlight and ultraviolet radiation by the presence of hair. When hair loss occurs, for example, in androgenetic alopecia, this protective factor declines. OBJECTIVE: We report a series of 10 type IV and V skin patients with a male predominance (60-85 years). All ...

BACKGROUND: Overt cytomegalovirus (CMV) disease is a serious viral infection that usually occurs in immunocompromised patients but rarely in immunocompetent patients. Cutaneous lesions, albeit rare, occur as late systemic manifestations of CMV infections and are usually fatal. OBSERVATIONS: We describe 2 patients with drug-induced hypersensitivity syndrome (one end of a ...

As in humans, there is mounting evidence in support of an abnormal skin barrier contributing to the pathogenesis of canine atopic dermatitis (AD). Studies in people with AD have associated an abnormal skin barrier with deficiencies in ceramides, which represent important components of the stratum corneum (SC) intercellular lipid lamellae. ...

We report a patient with a spectrum of clinical features simulating toxic epidermal necrolysis, bullous erythema multiforme and later, dermatitis herpetiformis (DH). The histological features were suggestive of DH, bullous pemphigoid (BP) and epidermolysis bullosa acquisita (EBA). Direct immunofluorescence results suggested BP or EBA. Indirect immunofluorescence on salt-split skin and ...

Background The link between various chronic skin disorders and toxocariasis was previously demonstrated by case reports and several case-control studies. However, these previous studies were based only on the Toxocara canis excretory-secretory-enzyme-linked immunosorbent assay (TES-ELISA) serological technique, which is not specific due to cross-reactivity with parasites of the genera Anisakis ...

BACKGROUND: Scarring represents the single most debilitating aspect of discoid lupus erythematosus (DLE) in patients with cutaneous lesions alone. Despite this, there have been no studies which have attempted to classify the types of scars seen in this chronic disease. OBJECTIVES: The aim was to classify the types of scars ...

BACKGROUND: Eruptive pseudo-angiomatosis (EPA) is a rare, relatively newly described cutaneous disorder characterized by the sudden onset of several bright red, angioma-like papules surrounded by blanched halo. Its aetiology is unknown; however, viral infection or mosquito bites have been speculated as possible causes. OBJECTIVE: This study aims to determine the ...

A prospective, controlled epidemiologic survey performed in El Bagre, Colombia revealed a new variant of endemic pemphigus disease, occurring in a gold mining region. The disease resembled Senear-Usher syndrome, and occurred in an endemic fashion. The aim of this study is to describe the most frequent histopathologic patterns in non-glabrous ...

BACKGROUND: Livedo reticularis (LR) is a skin disorder characterized by a reddish-blue mottling of the skin in a "fishnet" reticular pattern. The aim of this study was to investigate the major histopathological characteristics of LR and determine whether the histopathology of LR is more common in whitish areas or in ...

BACKGROUND: Sarcoidosis is a multisystem granulomatous disease of unknown aetiology, which most often involves the lungs and lymphatic system. Cutaneous involvement is found in approximately 25% of cases of sarcoid. Most previous studies of cutaneous sarcoidosis have been drawn from populations with defined pulmonary disease, so may represent a population ...

BACKGROUND: Classical blepharoplasty removes supratarsal upper eyelid skin rather than subbrow skin. It does not adequately address the redundant skin of lateral hooding. Asians tend to have higher eyebrows than whites. For Asian women who have tattooed eyebrows with redundant upper lateral eyelid skin and who request a rejuvenating upper ...

'Holi' is an annual spring festival celebrated all over India. The central ritual of Holi involves throwing of colors on one another. Playing with toxic industrial dyes often results in various dermatological complaints in a significant number of people immediately following the celebration. To describe patterns of various skin manifestations ...

BACKGROUND: Polysensitization ( >or= 3 contact allergies) may be regarded as a special entity in patients with contact allergies. However, this group of polysensitized patients is poorly characterized. Filaggrin mutations are associated with atopic eczema and lead to impaired skin barrier which may predispose to contact allergy. Therefore, it is ...

BACKGROUND: Cutaneous vasculitis presents as a mosaic of clinical and histological findings. Its pathogenic mechanisms and clinical manifestations are varied. AIMS: To study the epidemiological spectrum of cutaneous vasculitides as seen in a dermatologic clinic and to determine the clinico-pathological correlation. METHODS: A cohort study was conducted on 50 consecutive ...

BACKGROUND: Changes in skin color are common among dialysis patients. They are associated with urochrome pigments, hemoglobin, and changes in cutaneous vasculature. Insulin resistance (IR) is strongly linked to cutaneous vascular dysfunction and is prevalent in dialysis patients. We postulated skin color may be associated with IR in dialysis patients ...

Primary cutaneous mucormycosis is an uncommon disease and occurs mainly in patients with immunocompromised disorders. We report a case of cutaneous mucormycosis in an immunocompetent man in whom no definite precipitating factors were noted. The isolate was identified as Rhizomucor variabilis according to the fungus morphology and DNA sequencing results. ...

Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fibrosis are unique features of this disorder. Twelve patients with argininosuccinate lyase deficiency were ascertained between ...

BACKGROUND: In acne vulgaris patients, the presence of a dysregulation of the production of innate and specific antimicrobial peptides has been postulated. OBJECTIVE: This study aims to determine whether human neutrophil proteins (HNP) 1-3 are expressed in acne patients. MATERIALS AND METHODS: HNP 1-3 expression was investigated in 35 acne ...

OBJECTIVE: To assess the basic features and outcomes of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. METHODS: We identified all patients seen in our unit between 1990 and 2008 diagnosed according to the proposed inclusion criteria with SAPHO syndrome, who had a followup of at least 2 years. RESULTS: ...

BACKGROUND: Monitoring and repeated staging is of substantial importance in many patients with primary cutaneous T-cell lymphomas (CTCL). For primary cutaneous B-cell lymphomas (CBCL), extensive initial staging is the mainstay for correct diagnosis. AIM: To evaluate the value of somatostatin receptor scintigraphy using the radiolabeled somatostatin analog (111)In-pentetreotide in comparison ...

The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway ...

BACKGROUND: Linear scleroderma and Parry-Romberg Syndrome (PRS) are chronic diseases that can affect the face, with patients therefore requiring facial volumetric correction. OBJECTIVE: We have used poly-L-lactic acid (PLLA) to treat facial asymmetry in patients with linear scleroderma and PRS, because it can restore volumetric defects and has been proven ...

Melasma is an abnormal acquired hyperpigmentation of the face of unknown origin, it is considered a single disease and very little has been found regarding its pathogenesis. It is usually assumed that melasma is due to excessive melanin production, but excessive retention or abnormal metabolism of this molecule has not ...

BACKGROUND: Anthracyclines, such as pegylated liposomal doxorubicin (PLD) and epirubicin (EP), are effective for the treatment of malignant tumors. Unfortunately, their implementation in therapy is limited due to severe side-effects such as palmar-plantar erythrodysesthesia (PPE). PATIENTS AND METHODS: As the exact pathogenesis of PPE still remains unclear, laser scanning microscopy ...

BACKGROUND: Atopic eczema (AE) is characterized by reduced skin hydration (SH) and impaired integrity of the skin. Proper emollient usage is an important facet of AE management and patients are encouraged to use emollients liberally. AIM: To evaluate whether the amount of emollient and skin cleanser used correlates with eczema ...

Sulfur mustard (SM) is a strong vesicant agent which has been used in several military conflicts. Large stockpiles still exist to the present day. SM is believed to be a major threat to civilian populations because of the persistent asymmetric threat by non-state actors, such as terrorist groups, its easy ...

BACKGROUND: Although chronic urticaria (CU) is often regarded as autoimmune in nature, only less than 50% of sera from CU patients contain histamine-releasing autoantibodies. This suggests that other factors may contribute to its pathogenesis. We evaluated the possible involvement of vascular endothelial growth factor (VEGF), one of the major mediators ...

BACKGROUND: Seborrhoeic dermatitis (SD) is a common inflammatory skin disease for which no single cause has been found, although many factors have been implicated. The mite Demodex folliculorum (DF) is most commonly seen in the pilosebaceous unit in humans. SD is located in areas that are rich in sebaceous glands, ...

BACKGROUND: Staphylococcus aureus (S. aureus) is a well-known trigger factor of atopic dermatitis (AD). Besides staphylococcal superantigens, alpha-toxin may influence cutaneous inflammation via induction of T-cell proliferation and cytokine secretion. OBJECTIVES: To investigate the association between sensitization to inhalant allergens and skin colonization with alpha-toxin-producing S. aureus in AD. PATIENTS ...

Fentanyl is an opioid with high lipid solubility, suitable for intravenous, spinal, transmucosal and transdermal administration. The transdermal fentanyl patch has become widely used in the treatment of both malignant and non-malignant chronic pain. The absorption of fentanyl from the patch is governed by the surface area of the patch, ...

BACKGROUND: Vitiligo is an acquired disorder characterized by circumscribed depigmented macules devoid of identifiable melanocytes. Complex genetic, immunological, neural and self destructive mechanisms interplay in its pathogenesis. According to autocytotoxic hypothesis, oxidative stress has been suggested to be the initial pathogenic event in melanocyte degeneration. AIMS: The aim of our ...