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Background/objectives: Most studies about Papillon-Lefèvre syndrome (PLS) are limited to case reports and patients of the same nationality. This study aimed to determine the self-reported prevalence of signs, symptoms and treatment effectiveness in PLS patients from five Latin American countries., Methods: An online survey was conducted among adult and paediatric patients from Mexico, Argentina, Colombia and Brazil. Data were collected using multiple-choice, open-ended and image-chooser questions on demographics, signs and symptoms, perceived treatment effectiveness and quality of life., Results: Seventeen patients (10 males and 7 females) aged 4-47 years were surveyed. All had palmoplantar hyperkeratosis. Other affected sites were the feet and hand dorsum (82.35%), Achilles tendon (88.24%), forearms (58.82%), legs (29.41%) and glutes (23.53%). They frequently presented hyperhidrosis and nail pitting. Four had a history of delayed umbilical cord separation. All used topical treatments, with moderate effectiveness; half used oral retinoids, perceived as highly effective. Most reported decreased quality of life and walking difficulties., Conclusions: The study's results align with prior research on PLS, but reveal new insights, including the impact on patients' quality of life and a history of delayed umbilical cord separation. These findings warrant consideration in future research and patient care., (© 2024 Australasian College of Dermatologists.)

Introduction: The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil., Patients and Methods: This is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, São Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected., Results: Eighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of São Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses., Conclusion: The low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary (t)., (© 2023. The Author(s).)

Objective. To determine the frequency of immunodeficiency-like states in SLE and related clinical features. Methods. Three hundred and fifteen SLE patients and 301 controls were evaluated for C4A and C4B gene copy number, immunoglobulin isotypes, IgG subclasses, total haemolytic complement (CH50), C2, C3 and neutrophil oxidative burst. C2 and C3 genes were sequenced in cases of low C2 or C3 levels. Those presenting abnormal CH50 with normal C2 and C3 underwent C1q-C9 determination. Patients with active SLE and abnormal results were re-tested after the flare or were excluded if no remission was attained. Fifteen patients were excluded on this basis. Persistent abnormal results characterized an immunodeficiency-like state. Results. A significantly higher percentage of SLE patients presented an immunodeficiency-like state compared with controls (28.7% vs 3.3%; P < 0.001), especially low immunoglobulin serum levels. Rigorous testing confirmed only two cases of C2 deficiency carriers among the SLE patients. There were significantly more SLE patients with less than two C4A copies compared with controls. SLE patients had higher frequency of low IgG2, IgG3, IgG4 and IgM levels compared with controls. Patients with low IgG3 or IgG4 presented higher frequency of lupus nephropathy. Patients with low IgM had longer disease duration, older age at SLE onset and lower frequency of oral ulcers. Conclusion. An immunodeficiency-like state is present in a sizable fraction of SLE patients. Further studies are warranted to determine the impact of these immunodeficiency states and whether they are a primary condition or are secondary to confounding factors, including SLE itself. [ABSTRACT FROM AUTHOR]

Background Hereditary Angio-oedema (HAE) is a serious medical condition caused by a rare autosomal dominant genetic disorder, in which C1 inhibitor (C1-INH) function is reduced. There is no organized information on the HAE patient population in Brazil. Objective The Brazilian Registry was established to disseminate diagnostic access, and to better understand the main features of the disease in our country and its clinical impact. Methods A questionnaire was prepared and sent to specialists. The completed questionnaires were forwarded to the coordinating site and then entered into the Registry. Samples from patients with an unconfirmed diagnosis were tested for C1 inhibitor and C4 levels. Results From 2006 to 2010, 210 patients (133 females; mean age, 30 ±17 years) were included. The median age of onset of symptoms and age at diagnosis were 6.5 and 21 years, respectively; 80.9% of the patients had subcutaneous oedema, 54% gastrointestinal and 35.7% respiratory symptoms (21% had laryngeal oedema). Laparotomy due to the disease was performed in 6.2% of the patients. The majority of patients had Type I HAE of moderate severity. Twenty-seven per cent did not receive treatment; 53% were treated with danazol alone. Conclusion A paucity of patients with Type II HAE and a high frequency of laparotomy were observed, highlighting the need for better diagnosis in Brazil. HAE related educational activities, improved diagnosis and access to available therapy are needed in Brazil. [ABSTRACT FROM AUTHOR]