RCAAP Repository

A 76-year-old male presented with multiple painful bullae and erosive lesions scattered through the abdomen and back, and erosive lesions on oral mucosa. Histology and perilesional direct immunofluorescence following cutaneous biopsy led to the diagnosis of pemphigus vulgaris. The patient was submitted to treatment with oral corticosteroid and azathioprine with gradual improvement. After progressive dose reduction, corticotherapy was suspended, keeping treatment with azathioprine alone. After three months clinical deterioration was noticed and new vegetative cutaneous lesions arose in intertriginous areas and, to a smaller extent, in the oral cavity. Histopathologic examination supported the diagnosis of pemphigus vegetans and clinical remission was achieved following re-introduction of oral corticosteroid in association with azathioprine.

Psoriasis is a common disease, whose treatment has evolved with new discoveries on its pathogenesis. Thus it becomes important to study the involved molecular and immune mechanisms to best understand current treatment and potential therapeutic targets. In this paper we aim to review current knowledge on psoriasis pathogenesis. We describe the proposed role for the immune system, the keratinocytes and the microvasculature. The immune system is currently considered the primary pathogenic modulator and we describe T lymphocytes and other cell types role, cytokines, chemokines and counterregulatory mechanisms. Known as a genetic and environmental disorder, we refer to associated genetic polymorphisms and the relation to the expression of microRNAs.

Psoriasis is a chronic inflammatory disorder, multisystem and immunologically mediated. Approximately one third of adults refer the age of onset before 16, representing about 4% of all dermatoses seen in pediatric age. The majority of cases are mild and adequately managed with topical medications. A minor subset of children present with severe, rapidly evolving disease that requires systemic therapy. The use of these therapies is limited by the risk of toxicity, the low acceptance and lack of studies to validate and guide the use of most of these drugs in children. This is the first of two articles which aim to review the topical (Part I) and systemic (Part II) treatment options available, as well as its safety and efficacy in children.

Dermoscopy is a noninvasive technique that improves the diagnostic accuracy of many pigmented skin lesions. This article intent to describe the criteria approved by the Portuguese Dermoscopy Group, till to nowadays, and systematize the diagnostic approach for a pigmented lesion.

Introduction: In recent years, the development of numerous biologic agents extended the therapeutic armamentarium available to dermatologists. Although they are currently approved only for psoriasis, experience is being accumulated with its use in the treatment of different inflammatory skin diseases.Methods: This was a retrospective study of all patients treated in our department with biologic agents for skin disease other than psoriasis. We analyzed the clinical data, previous and concomitant treatments, efficacy and safety profile of these agents in this setting.Results: 15 patients were included with 7 different skin diseases resistant to conventional therapies. Etanercept was used in 4 cases: 3 patients with scleroderma (2 patients developed major side effects and had to interrupt treatment, while the third patient had a good response) and one patient with elastolytic granuloma. Four patients were treated successfully with infliximab (3 cases of Behçet’s disease and 1 case of pytiriasis rubra pilaris). Adalimumab was used to treat a patient with subcorneal pustular dermatosis with excellent results. Efalizumab was ineffective in 2 cases of atopic dermatitis. Rituximab was used in 5 patients: 3 cases of pemphigus (with complete clinical improvement) and 2 patients with atopic dermatitis (1 patient had a good response but had to interrupt treatment because she become pregnant and in the other patient there wasn’t any clinical improvement).Conclusion: Biologic immunomodulators have demonstrated efficacy in the treatment of several dermatologic diseases; however, most of the available information are individual case reports or small case series. Despite our limited experience in this setting, these results seem promising in the treatment of some inflammatory skin diseases resistant to conventional therapies.

Objectives: To determine the prevalence of aetiological agents of dermatophytoses and epidemiologic characteristics of patients observed at the Dermatology Department of Hospital de Braga; to analyze the most frequent species, according to age and site of infection, and to compare our results with previous published studies.Material and Methods: Direct microscopy and culture of 5825 samples from patients with suspected superficial mycoses, observed between January 1999 and December 2009, at the Dermatology Department of Hospital de Braga.Results: Over this period, out of 5825 samples, dermatophytes were isolated in 1143 (19,6%). The most common type of infection was tinea corporis (44,8%). The most frequent dermatophyte was Trichophyton rubrum (43%), being the main cause of tinea cruris (73,5%), tinea ungueum (74,8%), tinea pedis (72,7%) and tinea manuun (57,7%), followed by T. mentagrophytes var. granulare, the dominant specie in tinea corporis (38%) and tinea barbae (76,9%). Mycrosporum canis was the most frequent agent in tinea capitis (67,1%).Discussion: Dermatophytoses are common in clinical practice. The distribution of dermatophytes varies in different geographical areas and over time, depending on several factors. Our results are similar to those found in other Portuguese published studies.

Chlamydia trachomatis (Ct) is often responsible for an asymptomatic genital infection and represents a major public health problem when untreated. The authors objective was to determinate the Ct genital infection prevalence in a Sexual transmitted infections (STIs) clinic, and to perform an analysis of different variables. It was a retrospective study of all the patients with a Ct infection, observed in the STIs clinic of the Dermatology and Venereology department of Curry Cabral Hospital, between January 2006 and December 2009. The diagnosis was confirmed by Nucleic acid amplification technique. An infection prevalence of 10,5% was found (81 patients with infection in 771 tested). In the 81 infected patients, statistic differences were found in the medium age between male and female patients (male=28,9 vs female=24,3) p=0,018; in the number of different sexual partners in the last 6 months (men= 3,32 vs female=1,5) p=0,009; and in the time in weeks between the beginning of symptoms and the diagnosis (male=2,65 vs female=6,64) p=0,032. The patients with Human immunodeficiency virus (HIV) co-infection had a superior number of different sexual partners in the last 6 months comparing with the non HIV p=0,003. We concluded that in our patients there were demographic, behavioral and clinical differences between male and female, and between HIV and non HIV. Besides that, the elevated prevalence that was found reinforces the importance of the programs instituted for early diagnosis of Ct infection.

Upper cutaneous lip reconstruction after the excision of a malignancy can be accomplished in several ways. The principles of an ideal upper lip reconstruction must accomplish an adequate balance between surgery with curative intention, functional competence preservation and acceptable cosmetic result. Herein the authors describe, with an illustrative case, a bilateral (or opposing) V-Y advancement flap, which is very useful in reconstructions of medium-large defects of upper cutaneous lip.

The correction of large surgical defects of the lower lip is challenging to the dermatological surgeon. It is important to associate a radical excision of the tumour with a good functional and cosmetic outcome. The authors report two cases. The case 1 is concerning to a 65-year-old patient with squamous cell carcinoma affecting over than one third of the lower lip. After tumour excision, the defect was closed with a Karapandzic flap (advanced-rotation pedicle myocutaneous flap). The case 2 respects to a 7-year-old-patient with a large squamous cell carcinoma of the lower lip involving the oral comissure. The defect resultant from radical excision of the tumour was reconstructed by an Abbé- Estlander flap (myocutaneous and mucous transposition flap). The cosmetic and functional outcome was good in both cases. The authors report these two cases because of its difficult surgical management, emphasizing the good results achieved with preservation of the functionality of lower lip.

Transfusion-associated graft-versus-host disease (TA-GVHD) is a rare complication of transfusion of nonirradiated blood components. It usually affects children in high-risk groups, including those who have primary immunodeficiencies (PIDs). It usually presents with skin, hepatic, digestive, and hematologic involvement and is normally fatal. We report a case of a nonlethal, attenuated, TA-GVHD which was the clue to the diagnosis of combined immunodeficiency. The disease was marked by the presence of a severe rash but lacked all the other usual manifestations and wasn’t fatal due to the fact that this child was under high-dose corticotherapy. This led to the survival of this child and allowed the diagnosis of a combined immunodeficiency. The definitive diagnosis of GVHD can be problematic because the clinical and histological features can mimic other conditions such as drug eruptions, viral rash or eczema.

Subcutaneous fat necrosis of the newborn (SCFN) is an uncommon disorder characterized by panniculitis, that usually runs a self-limited course and occurs in healthy and full-term newborn. The exact pathogenesis of subcutaneous fat necrosis of the newborn in not known, but it is postulated that cold or stress-induced injury to immature fat results in the development of solidification and necrosis; a granulomatous infiltrate forms subsequently. The present case report represents a SCFN limited to cutaneous involvement. The probable causal factor was delivery by cesarean.

Pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder characterized by the progressive calcification and fragmentation of the elastic fibres of the skin, the Bruch´s membrane of the retina and the cardiovascular system. We report a case of an eight year old boy presenting with typical cutaneous manifestations and early ocular findings – peau d´orange pigmentation of the retina´s posterior pole.

Insulin, a crucial therapeutic agent for diabetes mellitus, has been rarely associated with hypersensitivity events, particularly after introduction of recombinant human insulin analogs. The authors describe the case of a 69- year-old type-2 diabetic patient presenting with recurrent urticariform lesions on the sites of subcutaneous injection of Humalog® Mix 25 insulin, arising minutes after the administration and regressing spontaneously within hours. This condition had started one year before, soon after starting insulin analogues due to insufficient disease control with oral antidiabetic drugs. The patient denied any other symptoms and had no known allergies, except an unspecific generalized cutaneous reaction after intramuscular penicillin in childhood. Prick tests revealed positive reactions to all tested human insulins and insulin analogues. Patch tests with the Portuguese Baseline, Metal and Excipient Series were negative, except a non relevant reactivity to silver nitrate. Serum IgE was moderately increased (312 UI/ml) and RAST tests were reported as class 3 for human, bovine and porcine insulins, and class 2 for beta-lactam antibiotics. No further recurrence of cutaneous lesions was observed after insulin suspension and a reasonable glycemic control was achieved with complex oral anti-diabetic agent combinations.Type 1 IgE-mediated allergy to insulin analogues is rare and eventually severe, demanding a precocious diagnosis and suspension of the treatment. In many diabetic patients this might represent a significant therapeutic challenge, and a multidisciplinary approach is therefore recommended. 

Bullous pemphigoid (BP) is an acquired autoimmune disease characterized by subepidermal vesicles and bullae. The etiology for BP is mostly idiopathic with the highest occurrence in elderly patients, however, it is now wellaccepted that BP can be triggered by or associated with physical stimuli, malignancies, other autoimmune disorders and drugs. Drug-induced BP is a very rare complication of systemic therapy with several medications. The authors report a case of a furosemide-induced BP in order to highlight the importance of keeping an open mind about a rare, yet important complication of a widely used drug.

We present the case of a 25 year old Caucasian man with atopic dermatitis since the age of 7 that increased severity after 18 years old. He was medicated with anti-histamines, topical steroids, cycles of high dosage systemic corticotherapy and ultraviolet A phototherapy combined with psoralen (PUVA), without significant improvement and recurrent worsening each time there was a attempt to tapper oral corticotherapy dosage. Several therapy adjustments were made without success before intravenous immunoglobulin G therapy. We present the clinical evolution of this patient under intravenous immunoglobulin G therapy and discuss this therapy’s role in the treatment of atopic dermatitis.

Tinea capitis is a dermatophyte infection of the scalp. The most frequent pathogens in the Hospital de Braga are Microsporum canis and Trichophyton mentagrophytes var. granulare. It is a common infection in children but rare in adults. A case of an adult woman with discoid lupus and a Trichophyton violaceum infection of scalp is reported.

Around 20% of the population suffers at least one urticaria episode, with 0.5 to 1% suffering from chronic urticaria. This disease has a mean duration of 1 to 5 years, and it has a higher incidence in women between 20 and 40 years old. Due to the publication in 2014 of the European guidelines for the management of urticaria, the authors performed a revision covering different aspects of chronic urticaria. Chronic urticaria is manly driven by the release of pro-inflammatory mediators from mast cells. It is characterized by the daily or almost daily appearance of transient itchy wheals and/or angioedema for more than 6 consecutive weeks. It is classified as either chronic spontaneous or inducible urticaria. Complementary diagnostic tests based on clinical history are recommended. An evidence-based symptomatic treatment includes as 1st line non-sedating 2nd generation anti- -histamines H1, which can be up dosed up to 4 times. Omalizumab and cyclosporine are 3rd line therapeutic options. Due to the highly negative impact on patients’ quality of life together with the costs associated with this disease, it is highly important to raise awareness within the medical community. A correct and early diagnosis, along with the appropriate and timely referral to specialized centers has the main purpose of total symptom control in the safest possible way.

The concept of field cancerization, described in various types of cancer, has been intensely studied in skin cancer. It can be defined as the process in which the cells in a tissue or organ are transformed, with genetic modifications, but with normal clinical and histologic features, prior to neoplastic development or coexisting with malignant cells, independently of clonality. Applying this concept to clinical practice could have potentially important implications in early diagnosis, risk stratification, primary and secondary chemoprevention, definition of resection margins, and approach to local and distance recurrences. This paper presents a literature review on the concept of field cancerization, with emphasis on the potential implications for daily clinical practice.

The increasing number of drugs used in dermatological a venereological practice demands from the dermatologist an updated knowledge on their safety. In the case of pregnant women or those breastfeeding, the decision on whether or not to prescribe a particular drug must be based on a thoughtful evaluation of the benefits for maternal health and the potential risks to fetus' or infant's well-being. Whenever these patients require topical or systemic therapies, most can be adequately treated with safe and effective options. The first part of this article discusses the most recent data on the safety of some of the most commonly used systemic drugs in the dermatological context, in women of childbearing age.

The main biological effect of vitamin D is to promote bone mineralization and regulate calcium-phosphorus metabolism, but its extra-skeletal biological function has also been extensively studied. Vitamin D deficit has been associated with an increased risk for various diseases, including autoimmune, neoplastic, cardiovascular and neurological disorders. However, areas of controversy remain: a direct cause-effect relationship between vitamin D deficiency and non-skeletal pathology and the benefit of vitamin D supplementation with this goal still has to be confirmed. In individuals at risk for vitamin D deficiency vitamin D supplementation is safe, inexpensive and with demonstrated benefit in preventing fractures and falls. The authors present an overview of the synthesis, metabolism and action of vitamin D and perform a brief review of the pathophysiology of vitamin D in the skin, namely its influence on skin pigmentation and the effect of photoprotection on vitamin D synthesis and its relationship with skin diseases.