RCAAP Repository

The autoimmune blistering diseases include two major groups, those that result from autoantibodies against desmosome proteins and those that are associated with autoantibodies against molecular components of the basement membrane. Within the first group we address pemphigus vulgaris, pemphigus foliaceus, paraneoplastic pemphigus and IgA pemphigus. Within the second, we explore bullous pemphigoid, cicatricial pemphigoid and gestational pemphigoid. For each of these pathologies we describe the etiology, pathophysiology and clinical manifestations. Further on we delve into the topics of diagnosis, treatment and prognosis of these seven diseases together.

Introduction: Granuloma faciale is an uncommon disease. Clinical and histopathological features have been described only in case reports or small series.Material and methods: A retrospective study from 2001 to 2012 of patients with granuloma faciale diagnosed at the Department of Dermatology of Garcia de Orta Hospital was performed. The demographic, clinical and histopathological features were evaluated and a review of the literature was performed.Results: During this period, seven granuloma faciale were diagnosed in 5 women and 2 men. The mean age was 56 years. Five patients had a single lesion while 2 had multiple lesions, all of them located on the face. In 6 cases a Grenz zone was identified. The inflammatory infiltrate was mixed, predominantly lymphocytic (6 cases), and extended to the reticular dermis (4 cases). Leukocytoclasia, vascular ectasia and fibrinoid necrosis were detected in 6, 5 and 4 cases, respectively. Fibrosis, hemosiderin and extravasated erythrocytes were found in 3, 2 and 1 patients, respectively.Conclusions: The obtained results support most of the published data. Unlike to the literature, granuloma faciale was more common in women. The detailed characterization of this disease is important to its clinical and histopathological recognition, facilitating the differential diagnosis with other more common dermatoses.

Introduction: In recent years, the clinical experience with the use of intravenous immunoglobulin (IvIg) in Dermatology has increased. Despite limited information in literature, off-label use of IvIg has shown efficacy in the treatment of several refractary dermatosis to conventional treatments.Material and methods: We conducted a retrospective study of patients with dermatological pathology treated with IvIg between January 2004 and October 2011 in the Department of Dermatology, Hospital de Braga. We analyzed the demographic and clinical characteristics, therapies performed, clinical response and safety profile.Results: 21 patients were treated with IvIg in 10 different dermatological conditions: four patients with pemphigus vulgaris [2 with complete response (CR), one with partial response (PR) and another who interrupted treatment due to severe side effects]; two patients with bullous pemphigoid (one with CR and one with PR); three patients with Toxic Epidermal Necrolysis (TEN) with CR; two patients with dermatomyositis (both PR); four patients with Chronic Urticaria (one with CR, one with PR, one who did not respond and another who discontinued treatment for side effects); two patients with livedoid vasculopathy with PR, a patient with CREST syndrome that has not improved; a patient with Scleromyxedema with PR; a patient with Gangrenous Pyoderma with CR and one patient with Atopic dermatitis who discontinued treatment due to pregnancy. With the exception of three patients with TEN, all other patients had refractory disease to conventional systemic treatments. Conclusions: Although our experience is limited, treatment with IvIg may be beneficial in certain pathologies that do not improve with conventional treatment. Given its high cost and variable therapeutic effect, their use should be cautious until more studies define the risk-benefit ratio.

Erythema nodosum is a panniculitis characterized by the appearance of erythematous and painful subcutaneous nodules, usually accompanied by prodrome, which has a benign course, with a tendency for rapid spontaneous healing. Being able to accompany or precede various diseases makes it an important clinical and therapeutic challenge. The authors present two cases of erythema nodosum lesions whose appearance was preceded by infection of the upper airway and recovered uneventfully.

Erythema multiforme is an uncommon, immune-mediated disorder that presents with cutaneous or mucosal lesions or both, that occurs as a hypersensitivity reaction in response to infections or drugs. Erythema multiforme is mostly associated with herpes simplex virus. The association with Mycobaterium tuberculosis infection was less frequently described. We present a case of an Erythema multiforme caused by Mycobacterium tuberculosis infection in a 35-year-old patient who was successfully treated with isoniazid, rifampicin, pirazinamid and ethambutol.

Erythema multiforme is a skin disorder of unknown etiology and pathophysiology poorly known, but has been described in association with multiple inflammatory and infectious diseases. Ricketsia conori is a well known and broadly described infectious agent, with a wide range of clinical manifestations. The association between this infectious agent and erythema multiforme, although mentioned in some reviews, is extremely rare and poorly known. In this report we describe a case of Ricketsia conori infection, with laboratorial confirmations, in a 9 year’s old child who presented with a febrile syndrome and erythema multiforme.

Gianotti-Crosti syndrome is a papular or papulovesicular eruption, monomorphous, symmetrically distributed in the face, members and buttocks. We present a clinical case of a four year old boy with a monomorphous papulovesicular exanthema in the extensor aspects of forearm and legs and buttocks, preceded by a upper respiratory tract infection eight days before. The laboratory investigation showed activated lymphocytes, elevated liver enzymes and serologic evidence of acute Epstein-Barr virus infection. Gianotti-Crosti syndrome is an established clinical entity often misdiagnosed. The diagnosis is important as it excludes other pathologies, allowing reassure parents, because of its possible long evolution.

Statins are widely used nowadays. They are usually safe but sometimes can be associated with the development/ worsening of autoimmune diseases like Cutaneous Lupus Erythematosus. Authors describe the case of a female caucasian patient, 74 years-old, that 18 months after initiating therapy with simvastatin developed an annular skin rash on back and shoulders, characterized by erythematous papules and plaques with a desquamative surface. Laboratory tests showed positive ANA and anti-SSA antibodies. Skin biopsy was consistent with clinical diagnosis of Subacute Cutaneous Lupus Erythematosus. The clinical picture had complete resolution after Simvastatin cessation. Drug-induced Cutaneous Lupus Erythematosus is often very similar to idiopathic forms. Although it usually has a favorable prognosis, authors highlight its importance because of the possible associated systemic manifestations and disfiguring cutaneous scars.

Aquagenic Urticaria is a rare form of physical urticaria precipitated by water contact with the skin, whatever their temperature and nature. The pathophysiology is not completely understood. We report a case of a 6-year-old boy with erythematous maculopapular skin lesions often associated with pallor, especially that appeared on the chest, arms and legs when he contacted with water, regardless its temperature and source. On that time it was considered as diagnostic hypothesis aquagenic urticaria. There was clinical improvement with the introduction of hydroxyzine, thirty minutes before the contact with water and recurrence of signs/symptoms when the drug was not administered prophylactically. With this case report, the authors wish to emphasize that although this type of urticaria is rare in children, should be recognized because can cause systemic reactions potentially fatal and thus appropriate treatment can be instituted.

Background and Objectives: Despite the thermal injury in severe burn be acute and the pyoderma gangrenosum be an immune-mediated disease, many aspects are common in these two groups of patients. The authors argue that the rules used in the percentage determination of the skin involved in major burn are also used in extensive pyoderma gangrenosum cases. As well as a clinical support routine - used in the burned - but not always in patients with pyoderma gangrenosum.Case report: Male patient with extensive pyoderma gangrenosum clinical presentation, non-adherent to the treatment, presented ulcerated and vegetating lesions and cribiform scars. After clinical improvement, not returned in the medical appointment.Conclusions: In severe and extensive pyoderma gangrenosum cases, in which the percentage of cutaneous involvement exceeds 20% of the body surface, the approach of pyoderma gangrenosum should be similar to a major burn, with periodicals clinical examination and assessment of body hydration.

We report a clinicopathological case of a 62-year-old patient with a diagnosis of interstitial granuloma annulare, characterized by grouped papules without central atrophy, distributed in the lower limbs, buttocks and back. Histopathology was essential for diagnostic conclusion, since the initial assessment, the disease was not among the clinical hypotheses.

Variant of lichen planus, lichen planus pilaris (follicular) affects the pilosebaceous unit and can cause scarring alopecia. Lichen planus pigmentosum, another form of presentation of the LP, is characterized by papules or hyperchromic macules that can be itching, and is more frequent in melanodermic patients. We present the case of a patient who simultaneously presented two lichen planus subtypes: pilaris on the scalp, neck and forearms and pigmentosum on the face, which is rare. Trichoscopy improved visualization of changes on the scalp. There were hyperchromic macules on the forehead and erythematous follicular papules on the cervical area. After performing biopsies, the diagnosis of lichen planus pilaris on the scalp, lichen planus pigmentosum on the forehead and lichen planus pilaris on the cervical region were all confirmed. Lesions were initially treated with topical steroids, resulting in clinical improvement, but new lesions were presented on the forearms, and so the use of hydroxychloroquine was initiated.

The metropolitan area of Rio de Janeiro concentrates the most of new cases of leprosy, suggesting a relationship between high detection rates with higher population density and larger numbers of decentralized health units. For improved access to diagnosis and treatment is necessary training in disease. The authors present a case with casual link between leprosy and eruptive syringoma showing a representation of an endemic area.

Potential effects of pregnancy-associated hormones, endogenous and exogenous hormones on melanocytic nevi have been known for years. A 35-year-old man presented with a 6 month history of fast and simultaneous growth of previous, multiple melanocytic nevi located on the trunk, associated with increased levels of beta-human chorionic gonadotropin derived from testicular seminoma. After radical orchiectomy and adjuvant radiotherapy the tumor marker became undetectable. Without tumor relapse or further growth or other changes in skin lesion after 3 years of follow-up. We propose that in our patient, β-HCG derived from seminoma increased the growth pattern of previous nevi, a rarely described association.

Introduction: Angiosarcoma is the most common vascular tumor in the context of chronic lymphedema, known as Stewart-Treves syndrome. However, it is known that Kaposi's sarcoma is often accompanied by lymphedema (often precedes the onset of typical lesions), and occasionally distinguishing between Kaposi's sarcoma and angiosarcoma may be a diagnostic challenge.Clinical case: We present the case of a male patient, 69 years-old, with an erythematous-violaceous plaque on the left arm associated with chronic lymphedema. Histologic examination showed a proliferation of epithelioid cells in the dermis, associated with cytologic atypia and presence of slit-like vascular spaces evocative of angiosarcoma. However, the clinicopathological correlation associated with molecular biology (PCR) allowed the diagnosis of anaplastic Kaposi's sarcoma. Comments: Our case highlights the difficulty in differentiating this variant of Kaposi's sarcoma from angiosarcoma and the spectrum of clinical and histologic overlap between these two entities.

Eccrine poroma is a relatively rare benign adnexal tumor with multiple clinical presentations, mimicking several other cutaneous neoplasms. The pigmented form is uncommon and usually located in nonacral sites in non-white patients. The authors present the case of a patient with a pigmented tumoural lesion on the left shoulder clinically thought to represent nodular malignant melanoma, but whose histopathology revealed a pigmented form of eccrine poroma. The lesion was surgically removed and no recurrence was seen after six months of follow-up.

Hair loss, inflammatory and infectious scalp diseases and hair shaft disorders are common entities in the daily practice, with a differential diagnosis sometimes broad and difficult. In this setting, trichoscopy has been recently developed, consisting in the dermoscopic examination of the hair and scalp. Being an easy in-office technique that may be widely applied, not only diagnosing hair and scalp disorders, but also monitoring therapy, trichoscopy is gaining increasing popularity. The authors review the current knowledge on trichoscopy, including the trichoscopic structures already described and their applicability in the diagnosis of several hair and scalp disorders with well-established criteria.

Introduction: The cutaneous mucinoses are rare disorders in which an abnormal amount of mucin accumulates in the skin. They may be primary or secondary and associated conditions include paraproteinemia, diabetes mellitus, thyroid and autoimmune diseases. In order to favor its clinical and pathological recognition, the primary cutaneous mucinoses diagnosed in our department are reviewed and characterized.Material and methods: A retrospective study from January 2000 to December 2012 of patients with primary cutaneous mucinoses was performed. The demographic, clinical and histopathological features were evaluated and a review of the literature was performed.Results: Fifteen cases were diagnosed in 8 women and 7 men. The mucinoses that have been found were lichen myxedematosus (7/15), reticular erythematous mucinosis (3/15), scleredema (3/15) and pretibial myxedema (2/15). Within the first, it was distinguished the discrete papular form (3/7) acral persistent papular mucinosis (2/7), nodular (1/7) and atypical form (1/7). An association was found with hyperthyroidism (in cases of pretibial myxedema) and primary biliary cirrhosis, autoimmune hepatitis and multiple myeloma (in 2 cases of scleredema).Conclusions: The limited number of cases is explained by the rarity of these conditions. Based on the results, an anatomical and clinical review was performed with a focus on the type, distribution and evolution of cutaneous lesions, well as the presence or absence of any systemic manifestations or pathological associations. Histologically, for the differential diagnosis, the most important features are the distribution of mucin, the degree of fibroblast proliferation, morphology of collagen fibers, the number of elastic fibers and the presence or absence of fibrosis.

Background: Sentinel lymph node biopsy is undertaken as a standard procedure for patients with localized cutaneous melanoma. The National Comprehensive Cancer Network (NCCN) melanoma panel has reinforced the status of Sentinel lymph node biopsy as the most important prognostic factor for disease survival.Objectives: We sought to identify predictive factors associated with positive SLN biopsy and correlation with overall survival in our population.Methods: A retrospective chart review of 221 patients who had undergone successful Sentinel lymph node biopsy for melanoma between 2004 and 2010 at our department was done. Univariate and multivariate analyzes were performed.Results: Sixty-one point five percent of patients were women and the mean age was 59.3 years. Most of the primary lesions were located on the lower limbs (43%), mainly on the feet (21.3%). The Sentinel lymph node biopsy was positive in 48 patients (21.7%). Univariate analysis showed that male gender, increasing Breslow thickness, tumor type, and presence of tumor-infiltrating lymphocytes were significantly associated with a positive Sentinel lymph node biopsy. Multivariate analysis confirmed that Breslow thickness and the presence of tumor-infiltrating lymphocytes are independently predictive of Sentinel lymph node metastasis. The 5-year survival rates were 53.1% for Sentinel lymph node positive patients and 88.2% for SLN negative patients. Breslow thickness and the Sentinel lymph node status independently predict overall survival.Conclusions: The risk factors for positive Sentinel lymph node biopsy in our study were consistent with those previous found in the literature. In addition, Sentinel lymph node status is a major determinant for survival, which highlights its importance in melanoma management.

Introduction: The scope of dermoscopy extends beyond the evaluation of pigmented lesions, particularly in the assessment of vascular, infectious and inflammatory lesions as well as in the scalp and nail diseases. We aim to show dermoscopic features that may be useful in the diagnosis and follow-up of non-melanocytic lesions.Material and Methods: We selected 19 patients in whom dermoscopy was used for diagnosis and/or follow-up. The dermoscopic features were compared with data from the literature.Results: We describe the dermoscopic appearance of vascular lesions such as infantile hemangioma, glomangioma, hobnail hemangioma, lymphangioma circumscriptum and acquired digital arteriovenous malformation. Within the viral infections and ectoparasitic infestations, we detail the pathognomonic dermoscopic findings of molluscum contagiosum, viral wart, pediculosis capitis and scabies. We also describe the dermoscopic appearance of disseminated superficial actinic porokeratosis, psoriasis, pityriasis rosea, lichen planus, sarcoidosis, palmoplantar spiny keratoderma, pitted keratolysis, accessory nipple, sebaceous hyperplasia and subcorneal hematoma, comparing the results obtained with the dermoscopic patterns previously described in literature and herein reviewed.Conclusions: Dermoscopy is useful in the diagnosis, prognosis and follow-up of a diversity of skin lesions, besides to melanocytic lesions. There has been an exponential increase in its applications due to the recognition of new dermoscopic patterns, providing a valuable link between clinical and histologic diagnosis.