Continuing Medical Education Hailey-Hailey disease: clinical, diagnostic and therapeutic update Porro, Adriana Maria Seque, Camila Arai Miyamoto, Denise Nóbrega, Diego Vanderlei Medeiros da Enokihara, Milvia Maria Simões e Silva Santi, Claudia Giuli Resumo em Inglês: Abstract Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a “dilapidated brick wall”, with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment. |
Original Article A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) Nunes, Beatriz Azevedo Romano, Ana Karolina Ferreira Gonçalves Morgan, Mariana Aparecida Pasa Gonçalves, Alice Andrade Cardozo, Laís Faria Masulk Almeida, Luiz Gustavo Dufner de Haddad, Luciana Amaral Crippa, Ana Chrystina de Souza Antoniuk, Sergio Antonio Abagge, Kerstin Taniguchi Resumo em Inglês: Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described. |
Original Article Doppler ultrasound protocol for patients with hidradenitis suppurativa Denofre, Ariany Tomaz de Aquino Saran Stecca, Carolina Meloni Serrano, Juliana Yumi Massuda Buffo, Thais Helena Dertkigil, Rachel Polo Magalhães, Renata Ferreira Resumo em Inglês: Abstract Background Hidradenitis suppurativa (HS) is a chronic inflammatory disease that leads to the formation of nodules, abscesses and fistulas, with the formation of scars and fibrosis, causing significant impairment in patient quality of life. The diagnosis is clinical, using scores to classify the severity of the condition; currently the most recommended classification is the International Hidradenitis Suppurativa Severity Scoring System (IHS4). Doppler ultrasound has been used to complement the clinical evaluation of patients with HS. It is possible to observe subclinical lesions that change the staging, the severity of the case, and its treatment, either clinical or surgical. Correct treatment is essential to minimize the consequences of this disease for the patient. Objective To establish an outpatient protocol for the use of Doppler ultrasound in the care of patients with HS. Methods A narrative review of the literature was carried out on the use of Doppler ultrasound in patients with hidradenitis suppurativa; a referring protocol and technique orientations for imaging assessment in HS were created. Results Recommendation to perform ultrasound evaluation of symptomatic areas eight weeks after using antibiotics and four, 12, and 24 weeks after starting immunobiologicals; apply SOS-HS ultrasound severity classification. Study limitations The review did not cover all literature on ultrasound and HS; no systematic review was carried out, but rather a narrative one. Conclusions The correct assessment of patients staging must be carried out using dermatological ultrasound to avoid progression to scars and fibrosis, which compromise patients quality of life. |
Original Article Factors associated with non-pathogenic antibodies against desmoglein-3 in pemphigus foliaceus Vernal, Sebastian Julio, Tamiris Amanda Alves, Fernando Henrique Turatti, Aline Donadi, Eduardo Antonio Roselino, Ana Maria Resumo em Inglês: Abstract Background Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal form, and anti-Dsg1 and 3 in the mucocutaneous form. Anti-Dsg3 autoantibodies have been rarely reported in PF. Objectives To determine the factors associated with the production and pathogenicity of anti-Dsg3 in PF. Methods Comparative analytical study of three patients groups: 16 PF-anti-Dsg3+, and 42 PF-anti-Dsg3(-) and 22 PV treatment-naïve cases. Serum was used in the anti-Dsg1 and 3 ELISA, and in immunoblotting (IB) with human epidermis extract. The expression of Dsg1 and 3 in paraffin sections was analyzed by immunohistochemistry (IHC). HLA-DRB1 alleles were compiled from a database. Results In the PF-anti-Dsg3+ group: age range similar to that of the PV group (p > 0.9999); predominance of the generalized form of PF (p = 0.002); anti-Dsg3 titers lower than those of PV (p < 0.0001); IB confirmed Dsg3 identification in one (8.33%) of 12 patients; IHC showed exclusive cytoplasmic internalization of Dsg1; HLA-DRB1 alleles of susceptibility to PF, with the absence of alleles associated with PV, in the five typed patients. Study limitations Most of the patients in the PF-anti-Dsg3+ group were undergoing treatment. Conclusion The presence of anti-Dsg3 antibodies in PF was related to older age (comparable to that of PV) and the generalized form of PF. The non-pathogenicity of anti-Dsg3 antibodies in PF can be attributed to the low serum anti-Dsg3 titers, the lack of Dsg3 internalization as detected by IHC, and the absence of PV-associated HLA-DRB1 alleles. |
Original Article Presence of Merkel cell polyomavirus DNA and large-T antigen in keratinocyte carcinomas and its correlation with immunohistochemical markers p16, p53 and ki67 Bellott, T.R. Luz, Flávio Barbosa Silva, Anna Karoline Fausto da Varella, Rafael Brandão Rochael, Mayra Carrijo Rozza-de-Menezes, Rafaela Elvira Pantaleão, Luciana Resumo em Inglês: Abstract Background Merkel cell polyomavirus (MCPyV), a human polyomavirus that is unequivocally linked to merkel cell carcinoma (MCC), has been found in association with keratinocytes carcinomas (KC), especially basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC). Nevertheless, there is scarce information about the possible involvement of MCPyV in the development of KC. Objectives To assess the presence of MCPyV DNA and Large-T Antigen (LT-Ag) via Polymerase Chain Reaction (PCR) and Immunohistochemistry (IHC) in cases of KC, and to correlate its presence with immunohistochemical markers p16, p53, and ki67, tumor type and subtype, sun-exposed location, and epidemiological data. Methods The prevalence of MCPyV DNA, LT-Ag, and immunohistochemical markers p16, p53, and ki67 was assessed by PCR and Immunohistochemistry (IHC) in 127 cases of KC, these results were correlated with tumor type and subtype, sun-exposed location, and epidemiological data. Results The MCPyV DNA was detected in 42.57% (43 of 101) cases by PCR, the LT-Ag was detected in 16.4% (20 of 122) of cases, p16 in 81.5% (97 of 119), p53 in 66.4% (83 of 125), ki67 in 89% (73 of 82). No correlation between MCPyV LT-Ag and DNA confronted with tumor type, subtype, location site, and immunohistochemical markers was found. A single correlation between the MCPyV LT-Ag and cSCC tumors and peri-tumoral lymphocyte cells was noted. Study limitations Further steps need to be taken to better evaluate the MCPyV influence and its possible role in KC carcinogenesis, as the evaluation of the virus genome state, the gene sequence that encodes LT-Ag in the KC tumor cells, and in situ hybridization for viral DNA or RNA in these cells. Conclusions Despite the frequent detection of MCPyV in KC, the data available so far does not support the hypothesis of a causal relationship between them. |
Original Article Role of tangential biopsy in the diagnosis of nail psoriasis Bertanha, Laura Damas, Ingrid Iara Stelini, Rafael Fantelli Cintra, Maria Letícia Chiacchio, Nilton Di Resumo em Inglês: Abstract Background Histopathology can be crucial for diagnosis of inflammatory nail diseases. Longitudinal excision and punch biopsies are the most used techniques to obtain the tissue sample. However, there is a low clinical-histopathological correlation, besides the risk of nail dystrophy. Tangential excision biopsy (TB) is a well-established technique for the investigation of longitudinal melanonychia. TB could also be used to evaluate diseases in which histopathological changes are superficial, as in psoriasis. Objective To study the value of TB in the histopathological diagnosis of nail psoriasis. Methods This is a prospective and descriptive study of the clinical-histopathological findings of samples from the nail bed or matrix and nail plate of 13 patients with clinical suspicion of nail psoriasis. Biopsies were obtained through partial nail avulsion and TB. Results In nine patients, the hypothesis of psoriasis was confirmed by histopathology; in one, the criteria for diagnosing nail lichen planus were fulfilled. The tissue sample of only one patient did not reach the dermal papillae, and, in four of 13 patients, the adventitial dermis was not sampled. No patient developed onychodystrophy after the procedure. Study limitations In three patients, the clinical and, consequently, histopathological nail changes were subtle. Also, in one patient’s TB didn’t sample the dermal papillae. Conclusions TB is a good option to assist in the histopathological diagnosis of nail psoriasis, especially when appropriate clinical elements are combined. Using this technique, larger and thinner samples, short postoperative recovery time, and low risk of onychodystrophy are obtained. |
Review Prurigo: review of its pathogenesis, diagnosis, and treatment Criado, Paulo Ricardo Ianhez, Mayra Criado, Roberta Fachini Jardim Nakano, Juliana Lorenzini, Daniel Miot, Hélio Amante Resumo em Inglês: Abstract Prurigo is a reactive, hyperplastic skin condition characterized by pruritic papules, plaques, and/or nodules. The temporal classification includes acute/subacute and chronic disease (≥ 6 weeks), with different clinical variants, synonymies, and underlying etiological factors. The immunology of chronic prurigo shows similarities with atopic dermatitis due to the involvement of IL-4 and IL-13, IL-22, and IL-31. Treatment includes antihistamines, topical steroids, dupilumab, and JAK inhibitors. Several conditions manifest clinically as prurigo-like lesions, and the correct clinical diagnosis must precede correct treatment. Furthermore, chronic prurigos represent a recalcitrant and distressing dermatosis, and at least 50% of these patients have atopic diathesis, the treatment of which may induce adverse effects, especially in the elderly. The quality of life is significantly compromised, and topical treatments are often unable to control symptoms and skin lesions. Systemic immunosuppressants, immunobiologicals, and JAK inhibitors, despite the cost and potential adverse effects, may be necessary to achieve clinical improvement and quality of life. This manuscript reviews the main types of prurigo, associated diseases, their immunological bases, diagnosis, and treatment. |
Letter - Research Atopic dermatitis: real-life experience with tralokinumab after dupilumab failure: a case series Amoedo, Patrícia Rosa, Gilberto Baudrier, Teresa Pedrosa, Ana Filipa Cruz, Maria João |
Letter - Research Cardiovascular risk analysis in atopic dermatitis patients Ventura, Lucas Pires Pires, Mario Cezar Costa, Adilson da |
Letter - Research Dermoscopic changes of tattoos over melanocytic nevi Watanabe, Felipe Miguel Farion Dantas, Lia Dias Pinheiro Bonamigo, Renan Rangel |
Letter - Research Is arteriovenous fistula a risk factor for squamous cell carcinoma? Evaluation at a University Hospital Denofre, Ariany Tomaz de Aquino Saran Buffo, Thais Helena Stelini, Rafael Fantelli Cintra, Maria Leticia Magalhães, Renata Ferreira |
Letter - Research Oral minoxidil 7.5 mg for hair loss increases heart rate with no change in blood pressure in 24 h Holter and 24 h ambulatory blood pressure monitoring Sanabria, Baltazar Dias Perdomo, Yuri Chiarelli Miot, Hélio Amante Ramos, Paulo Müller |
Letter - Research The use of intravenous immunoglobulin as a rescue therapy for refractory parainfectious leprosy-related neuritis: a case series Léo, João Guilherme Pessôa Siqueira, Camila Bocchi Motta, Jorgeth de Oliveira Carneiro da Vasconcellos, Ingrid Faber de Araujo, Yuna Ribeiro de Glehn, Felipe Von Kurizky, Patrícia Shu Gomes, Ciro Martins Porto, Cláudia Feitosa, Maria Stella Cochrane |
Letter - Clinical Acquired dermal melanocytosis restricted to the hand Leite, Lucas Braga Ferreira, Flávia Regina Lira, Márcia Lanzoni de Alvarenga |
Letter - Clinical Dermoscopy of neoplastic alopecia secondary to cutaneous metastasis from breast carcinoma Santos, Bruno Simão dos Macêdo, Eduardo César Diniz Scabello, Bruna Nascimento Arruda Grossi, Patrícia Porto de Oliveira Valente, Neusa Yuriko Sakai |
Letter - Clinical Erdheim-Chester disease BRAF (-) Diagnosis through cutaneous manifestations and good response with anakinra treatment Morón-Ocaña, Juan-Manuel Pérez-Gil, Amalia |
Letter - Clinical Giant perforating pilomatricoma with osseous metaplasia Almeida, Vânia Olívia Coelho de Camargo, Ana Carolina Monteiro de Ataíde, Meire Soares de Tristão, Romes José Silva, Tullio Novaes |
Letter - Clinical Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome Navarro-Bielsa, Alba Ruiz-de-Larramendiz, Daniel Ruiz Abenia-Usón, Pilar Gracia-Cazaña, Tamara Gilaberte, Yolanda |
Letter - Clinical Neutrophilic dermatosis of the dorsal hands in a Mexican woman Barrera-Ochoa, Carlos Cano-Aguilar, Luis Enrique Cantú-Maltos, Hector Proy-Trujillo, Hector Eljure-López, Nixma Vega-Memije, María Elisa |
Letter - Clinical Pigmented polypoid basal cell carcinoma: a rare clinicopathological variant Fantini, Bruno de Carvalho Santos, Cecilia Anatriello dos Barros Junior, Sebastião Antônio de Souza, Cacilda da Silva |
Letter - Clinical Severe aggravation and possible triggering of pemphigus vulgaris following COVID-19 vaccination: report of two cases Irie, Kinuko Yamamoto, Toshiyuki |
Letter - Clinical Transient neonatal zinc deficiency or acrodermatitis enteropathica? Botelho, Luciane Francisca Fernandes Hélène, Selma Proença, Carolina Gonçalves Contin Mayor, Silvia Assumpção Soutto |
Letter - Tropical/Infectious and parasitic dermatology Clinical-epidemiological profile of leprosy patients undergoing retreatment at a reference center in southeastern Brazil Bezerra, Guilherme Holanda Velho, Paulo Eduardo Neves Ferreira França, Andréa Fernandes Eloy da Costa |
Letter - Dermatopathology Melanocytic matricoma: a pigmented lesion on the forehead Alonso-de-León, Teresa Barrera-Ochoa, Carlos Cano-Aguilar, Luis Enrique Munguia-Galeano, Katia Lizette Flores-Ochoa, Jorge Felipe Vega-Memije, María Elisa |
Letter - Therapy A case of generalized pustular psoriasis following Moderna/NIAID COVID-19 vaccination successfully treated with secukinumab Kusano, Misaki Mukaiyama, Ryuto Yamamoto, Toshiyuki |
Letter - Therapy Association of bullous pemphigoid and Grover disease induced by immune checkpoint therapy Pinto-Pulido, Elena Lucía Polo-Rodríguez, Isabel González-Cañete, Marta Medina-Expósito, Ileana Vélez-Velázquez, María Dolores Medina-Montalvo, Susana |
Letter - Therapy Bullous pemphigoid successfully treated with dupilumab Martinez, Daniela de Abreu e Silva Periquito, Amanda de Freitas Sampaio Roa, Graciela Galva Lupi, João Pedro Treu, Curt Mafra Lupi, Omar |
Letter - Therapy Inadequate response to antiplatelet therapy in Sneddon's syndrome. Time to re-evaluate management recommendations? Lecaros, Cristóbal Coulon, Gabriela Reculé, Francisca Castro, Alex Puerto, Constanza Del |
Letter - Therapy Multirefractory bullous pemphigoid, psoriasis and psoriatic arthritis successfully treated with guselkumab Rodríguez-Cuadrado, Francisco José Roustan-Gullón, Gaston Suárez-Massa, Dolores Hospital-Gil, Mercedes |
Letter - Therapy Psoriasiform rash following maculopapular eruption during the continued administration of pembrolizumab Sato, Mayu Yamamoto, Toshiyuki |
Letter - Tropical/Infectious and parasitic dermatology Single-lesion sporotrichosis triggering Sweet’s syndrome Almeida Jr, Hiram Larangeira de Rocha, Augusto Scott da Müller, Lilian Boff, Ana Letícia |
Letter - Therapy Use of low-dose rituximab to treat pemphigus Durães, Sandra M.B. Santos, Nathália R. Batzner, Clarissa N. Cerqueira, Fernando G.M. |
Correspondence Aspects related to the inference of causality in cross-sectional studies. Comments on: “8-Hydroxy-2’-deoxyguanosine protein immunoexpression is associated with the pathogenesis of actinic cheilitis” Martins, Ivanka Miranda de Castro Miola, Anna Carolina Garbers, Luiz Eduardo Fabrício de Melo Miot, Hélio Amante |
Correspondence 8-Hydroxy-2’-deoxyguanosine protein immunoexpression is associated with the pathogenesis of actinic cheilitis - Replay Varela, Cíntia Barreto de Oliveira Medeiros, Cristianne Kalinne Santos Lima, Jabes Gennedyr da Cruz Silveira, Éricka Janine Dantas da Oliveira, Patrícia Teixeira de |