Resumo em Inglês:

Abstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.

Resumo em Inglês:

Abstract Background: Vitiligo is a common skin disorder in which melanocytes are destroyed by auto-reactive immune responses. The loss of melanocytes results in the appearance of depigmented areas in different parts of the body. Cytokines have remarkable roles in the pathogenesis of vitiligo, such as IL-1, IL-6, and TNF-α; interleukin 27 (IL-27) is a new member of the IL-6/IL-12 family, mainly released by activated antigen-presenting cells. IL-27 has been suggested to function as a pro-inflammatory as well as an anti-inflammatory cytokine. Altered concentrations of IL-27 have been shown in various auto-immune diseases such as multiple sclerosis, rheumatoid arthritis, and psoriasis. No studies have been conducted to determine the expression of this cytokine in vitiligo patients. Objective: The objective of this study was to determine the serum concentration of IL-27 in vitiligo patients and compare it with normal individuals. Methods: The serum concentration of IL-27 in 79 vitiligo patients was evaluated in comparison to 45 healthy controls using ELISA assay. Results: Results showed decreased concentration of IL-27 in vitiligo patients as compared with healthy subjects (p = 0.026). Furthermore, no correlation between IL-27 concentrations and disease parameters such as vitiligo severity and the extension of the depigmented area was observed. Study limitation: A larger sample size would be more recommended for this study. Conclusion: The reduction in the serum levels of IL-27 in vitiligo patients compared to normal subjects suggested the possible anti-inflammatory role of this cytokine in vitiligo. Thus, IL-27 may be considered as a new target for the manipulation of the immune system in vitiligo patients.

Resumo em Inglês:

Abstract Background Psoriasis is a chronic systemic inflammatory disease frequently associated with serious comorbidities. Objectives To investigate the systemic inflammatory burden in psoriasis and to assess the correlation between traditional and novel inflammatory markers and the severity of the disease. Methods This cross-sectional study was conducted on 60 patients with psoriasis vulgaris and 50 healthy volunteers. Data including demographics, Psoriasis Area and Severity Index scores, and laboratory results were analyzed and compared. Results Compared with the control group, the psoriatic patients had significantly higher high sensitive C-reactive protein, serum amyloid A, erythrocyte sedimentation rate, leukocyte, neutrophil, neutrophil-to-lymphocyte ratio, monocyte to high density lipoprotein (HDL) cholesterol ratio, and aspartate aminotransferase levels, and significantly lower HDL cholesterol levels (p < 0.05). No significant difference was found in procalcitonin, lymphocyte, monocyte, hemoglobin, red blood cell distribution width, platelet, mean platelet volume, platelet distribution width, lymphocyte-to-monocyte ratio, anti-cyclic citrullinated peptide, glucose, alanine aminotransaminase, blood urea nitrogen, creatinine, triglyceride, total cholesterol, and LDL cholesterol levels between the two groups (p > 0.05). The Psoriasis Area and Severity Index score was positively correlated with high-sensitivity C-reactive protein, serum amyloid A, and monocyte to HDL cholesterol ratio, and negatively correlated with lymphocyte-to-monocyte ratio (p < 0.05). Study limitations This was a single-center study with relatively limited numbers of patients and controls. Conclusions The data show that high sensitivity C-reactive protein, serum amyloid A, erythrocyte sedimentation rate, neutrophil-to-lymphocyte ratio, and monocyte to HDL cholesterol ratio can be used as markers of systemic inflammation in patients with psoriasis. Moreover, high sensitivity C-reactive protein, serum amyloid A, monocyte to HDL cholesterol ratio and lymphocyte-to-monocyte ratio are closely related to the Psoriasis Area and Severity Index score, and they may be regarded as objective indicators in determining the disease severity.

Resumo em Inglês:

Abstract Background: High-risk basal cell carcinoma involves a significant rate of basal cell carcinoma that requires Mohs micrographic surgery for definitive treatment. Staged excision with pathologic margin control is a simple, accessible, and curative procedure suggested for the treatment of high-risk basal cell carcinoma. Objective: To evaluate the results of staged excision of high-risk basal cell carcinoma in the head region. Methods: This interventional study was performed on patients with high-risk basal cell carcinoma, who underwent staged excision until the margins were free of tumor. Results: A total of 122 patients (47 females and 75 males) with mean age of 57.66 ± 9.13 years were recruited in this study. Nasal and nodular types were the most common of both clinical and pathologic forms, respectively. Further, 89.3 % of cases were cured by staged excision after four years of follow-up. There was a significant relationship between treatment outcomes and recurrent lesions, multiplicity of risk factors, long-standing disease, and pathologic type. There was also a significant association between the number of surgical excisions and multiplicity of risk factors, as well as recurrence, location, and size of basal cell carcinoma. Study limitations: Lack of magnetic resonance imaging assessment in cases of suspected perineural invasion. Conclusions: High-risk basal cell carcinoma had a high cure rate by staged excision. Patients with more risk factors and those with nasal and recurrent basal cell carcinoma required more staged excisions. Failure of treatment is more probable in patients with more risk factors, long-standing lesions, and high-risk pathologic and recurrent basal cell carcinomas.

Resumo em Inglês:

Abstract Background: Syphilis is one of the most common diseases that start with genital ulcers. Aside from the initial, classic ulcerative lesion of syphilis, called hard chancre, atypical presentations are common, with erosions, erythema, edema, balanitis, and other dermatological manifestations. Associated with initial genital lesions, the presence of inguinal adenopathies is frequent, and the presence of hardened and painless lymphangitis on the dorsum of the penis is rare. Objectives: To describe atypical penile manifestations in patients with early syphilis. Methods: The present study reports patients who developed cord-like lesions on the penis. Results: The study included 25 patients with cord-like lesions on the penis; in 19 of those, the diagnosis of syphilis was confirmed. Study limitations: Small number of patients included. Conclusions: In view of the findings of the present investigation, it is important to emphasize that all patients who present with cord-like lesions on the penis must undergo a rapid test for syphilis, VDRL, serologies for HIV viral hepatitis B and C and, whenever possible, histopathological and Doppler exams.

Resumo em Inglês:

Abstract Background: The treatment of basal cell carcinoma depends on its histological subtype. Therefore, a biopsy should be performed before definitive treatment. However, as the biopsy is only a sample of the tumor, it does not always shows every histological subtype present in the neoplasm. Few studies have compared the histological findings of biopsies with the findings of Mohs micrographic surgery. By evaluating the totality of the peripheral margins, in addition to sampling large tumor areas, this technique provides a more representative amount of tissue than preoperative biopsy. Objectives: a) Determine the agreement between the histological subtype of basal cell carcinoma from punch biopsy and the findings of Mohs surgery; b) To assess, among the discordant cases, the prevalence of non-aggressive tumors in the preoperative biopsy that were reclassified as aggressive by Mohs surgery. Methods: Retrospective analysis of 79 cases of basal cell carcinomas submitted to punch biopsy and subsequent Mohs surgery. Results: The agreement between the classification of the subtypes in the biopsy and in Mohs surgery was 40.5%. Punch biopsy was able to predict the most aggressive basal cell carcinoma growth pattern in 83% of cases. Study limitations: Retrospective nature, sample size, and biopsies performed by different professionals. Conclusions: The agreement between the histopathological subtypes of basal cell carcinoma as seen in preoperative biopsy and Mohs surgery was low. However, preoperative biopsy presented good accuracy (83%) in detecting aggressive histopathological subtypes.

Resumo em Inglês:

Abstract Background: Dermoscopy increases the diagnostic accuracy in dermatology. The aspects related to training, usage profile, or perceptions of usefulness of dermoscopy among dermatologists in Brazil have not been described. Objectives: To evaluate the profile of the use of dermoscopy and the perception of the impact of the technique on clinical practice. Methods: The Brazilian Society of Dermatology invited all members to complete an online form with 20 items regarding demographic data, dermatological assistance, use of dermoscopy, and perceptions of the impact of the technique on clinical practice. The proportions between the categories were compared by analysis of residuals in contingency tables, and p-values < 0.01 were considered significant. Results: The answers from 815 associates (9.1% of those invited to participate) were assessed, 84% of whom were female, and 71% of whom were younger than 50 years of age. The use of dermoscopy was reported in the daily practice of 98% of dermatologists: 88% reported using it more than once a day. Polarized light dermoscopy was the most used method (83%) and pattern analysis was the most used algorithm (63%). The diagnosis and follow-up of melanocytic lesions was identified as the main use of the technique, while the benefit for the diagnosis of inflammatory lesions was acknowledged by less than half of the sample (42%). Study limitations: This was a non-randomized study. Conclusion: Dermoscopy is incorporated into the clinical practice of almost all Brazilian dermatologists, and it is recognized for increasing diagnostic certainty in different contexts, especially for pigmented lesions.

Resumo em Inglês:

Abstract Fusariosis is a superficial or systemic infection, which occurs mainly in immunocompromised hosts, especially in patients with hematological neoplasia; 70%–75% of the cases present cutaneous manifestations. The disseminated form is rare and difficult to diagnose; even with specific treatment, the evolution is usually fatal. Currently, it is considered an emerging disease; in some centers, it is the second most common cause of invasive mycosis, after aspergillosis. The authors describe a case of a female patient with idiopathic bone marrow aplasia and disseminated fusariosis, who initially appeared to benefit from voriconazole and amphotericin B; however, due to persistent neutropenia, her clinical condition deteriorated with fatal evolution.

Resumo em Inglês:

Abstract Biological therapies, including anti-TNF agents, are important in the treatment of various chronic inflammatory diseases, including psoriasis, rheumatoid arthritis or inflammatory bowel disease. The increased use of these drugs translates into an increasing awareness of its adverse effects, which include malignancy. In this paper, we describe the case of a 28-year-old woman who developed a spitzoid melanocytic tumor after starting infliximab therapy for ulcerative colitis. The evidence for causality between anti-TNF and melanocytic proliferations is still sparse; nonetheless, treatment-associated immunosuppression seems to play a key role in this phenomenon. Therefore, a regular follow-up with a rigorous skin examination is essential in these patients. Noninvasive techniques such as dermoscopy or reflectance confocal microscopy are particularly useful diagnostic tools in these circumstances.

Resumo em Inglês:

Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

Resumo em Inglês:

Abstract The authors report a rare case of primary cutaneous mucormycosis caused by Mucor irregularis and cutaneous Klebsiella pneumoniae infections in a 67-year-old Chinese woman. After the administration of liposomal amphotericin B combined with cefoperazone/sulbactam sodium, the patient recovered. Invasive fungal infection combined with cutaneous bacterial infection should receive attention.

Resumo em Inglês:

Abstract Dermatofibroma is a dermal fibrohistiocytic neoplasm. The Langerhans cells are the immunocompetent cells of the epidermis, and they represent the first defense barrier of the immune system towards the environment. The objective was to immunohistologically compare the densities of S100-positive Langerhans cells in the healthy peritumoral epidermis against those in the epidermis overlying dermatofibroma (20 cases), using antibodies against the S100 molecule (the immunophenotypic hallmark of Langerhans cells). The control group (normal, healthy skin) included ten healthy age and sex-matched individuals who underwent skin biopsies for benign skin lesions. A significantly high density of Langerhans cells was observed both in the epidermis of the healthy skin (6.00 ± 0.29) and the peritumoral epidermis (6.44 ± 0.41) vs. those in the epidermis overlying the tumor (1.44 ± 0.33, p < 0.05). The quantitative deficit of Langerhans cells in the epidermis overlying dermatofibroma may be a possible factor in its development.

Resumo em Inglês:

Abstract Chemotherapy-induced alopecia causes an important impact on cancer patients and its risk of persistence is currently a considerable issue in cancer survivors. Of the various interventions proposed for the prevention of chemotherapy-induced alopecia, scalp cooling has emerged as an effective and safe strategy. This paper aims to provide an overview on scalp cooling and chemotherapy-induced alopecia prevention.

Resumo em Inglês:

Abstract Scabies is an ectoparasitosis caused by Sarcoptes scabiei var. hominis, characterized clinically by pruritic lesions in typical locations; the crusted form is a rare manifestation. The diagnosis is usually established based on the clinical picture, but dermoscopy can be an important complementary method, as it allows the observation of a brownish triangular structure with a hang-glider appearance. A case of crusted scabies is reported; the magnification of the images obtained by digital dermoscopy allowed the demonstration of a structure usually observed only with videodermoscopy.

Resumo em Inglês:

Abstract Genital lesions are an unusual presentation of American cutaneous leishmaniasis. Conditions such as disseminated cutaneous leishmaniasis and HIV infection may be associated with genital involvement. The authors present five cases of American cutaneous leishmaniasis with genital lesions and discuss the clinical and epidemiological aspects observed in this case series.

Resumo em Inglês:

Abstract This report presents the case of a 13-year-old female patient with history of acute myeloid leukemia, who, after a bone marrow transplant, began to vomit and experienced rapidly progressive deterioration of consciousness, in addition to disseminated erythematous-violaceous macules, and some blisters with hemorrhagic content inside. Skin biopsy evidenced intravascular filamentous structures. A blood culture confirmed the presence of Fusarium oxysporum. Intravenous treatment with voriconazole was initiated. The patient evolved unfavorably with multiple necrotic skin lesions, ischemic brain lesions, and death.

Resumo em Inglês:

Abstract The authors report a case of mobile and painful nodules on the bilateral plantar surface of a female patient referred by the rheumatology service, where she was being followed-up for rheumatoid arthritis. A nodule excision was performed for differential diagnosis and symptom relief; the histopathological analysis was compatible with a rheumatoid nodule. Although rheumatoid nodules are a common manifestation of rheumatoid arthritis, exclusive plantar involvement is seldom described in the literature.

Resumo em Inglês:

Abstract Leprosy is an infectious disease with chronic evolution, caused by Mycobacterium leprae, an acid-fast bacillus that mainly affects the skin and peripheral nervous tissue. Many of the clinical manifestations of leprosy can mimic connective tissue diseases. The authors present the case of a 49-year-old woman who had been treated for four years for systemic lupus erythematosus in a rheumatological service. Skin biopsy of a plaque on the inguinal region was compatible with borderline lepromatous leprosy associated with a type 1 lepra reaction. The patient is undergoing treatment with multibacillary multidrug therapy, showing clinical improvement.

Resumo em Inglês:

Abstract We present the case of an HIV-negative man with asymptomatic penile erythematoviolaceous papules associated with similar slightly verrucous papules in the interdigital space of the right foot. A biopsy of the penile lesion confirmed Kaposi's sarcoma. No other causes of immunosuppression were observed. Penile lesions of KS are rare in HIV-negative individuals but it should also be considered in the differential diagnosis. Careful follow-up is recommended.