RESUMEN
Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%-30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia-like syndromes due to trichoscopy findings, absence of response to long-term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.
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BACKGROUND: Squamous cell carcinoma (SCC) is one of the most commonly diagnosed neoplastic disorders in reptiles. Recently, however, it has been demonstrated that basal cell carcinomas (BCCs) are frequently misclassified as SCCs. Several histological SCC and BCC variants have been characterised and their classification may allow the establishment of appropriate prognosis estimation and treatment approaches. HYPOTHESIS/OBJECTIVES: To describe the clinical features and surgical outcomes of SCCs and BCCs diagnosed between 2010 and 2022 in reptiles. ANIMALS: Thirty-three captive reptiles (21 squamates and 12 chelonians). MATERIALS AND METHODS: Detailed clinical history, including staging and surgical outcomes, were performed. Statistical analysis assessed significant factors using Prism (v8.2.1). RESULTS: While SCC was predominantly diagnosed in lizards, BCC was most commonly diagnosed in chelonians, and both neoplasms mainly occurred in adult to aged, male individuals. Although the gross pathological findings were highly comparable between SCC and BCC, considerable variation could be seen according to the primary location (oral, cutaneous or epidermis of the shell). Humane euthanasia or noncurative intent surgeries were performed in a minority of the cases. Curative intent surgeries were successful in 19 of 27 cases during a 1- to 7-year follow-up period, yet recurrence was seen in 8 cases. The results of this study allowed the identification of significant high-risk prognostic factors for SCC and BCC in reptiles. CONCLUSIONS AND CLINICAL RELEVANCE: This study contributes to predicting the clinical behaviour and prognosis of distinct SCC and BCC histological variants, and selecting the most appropriate treatment protocol.
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Sweet syndrome is a neutrophilic dermatosis associated with multiple disorders. This retrospective case-series study of patients with Sweet syndrome in a tertiary hospital in Spain from 2001 to 2021, explores clinicopathological characteristics of Sweet syndrome and variables associated with malignancy, presence of autoinflammatory disorders and differences between histological subtypes. A total of 93 patients were identified: 30% idiopathic, 34% malignancy-associated, 29% reactive to infections or drug-associated, and 6% with an autoimmune/inflammatory condition. Acute myeloid leukaemia was the most common malignancy (16/93) followed by myelodysplastic syndrome (7/93). Patients with acute myeloid leukaemia presented isolated flares, marked cytopaenia and rapid response to treatment, whereas myelodysplastic syndrome followed a chronic-recurrent course. The most frequent associated medications and inflammatory disorders were filgrastim and hydroxyurea (n = 2); and inflammatory bowel disease (n = 4). In addition, 3 patients were diagnosed with VEXAS syndrome. Male sex (p = 0.006), fever (p = 0.034), increased erythrocyte sedimentation rate (p < 0.001), anaemia (p < 0.001), and thrombocytopaenia (p < 0.001) were associated with malignancy. Histologically, patients were classified as classic (60%), histiocytoid (22.5%) or subcutaneous (15%), with pain (p = 0.011) and nodules (p < 0.001) being associated with subcutaneous-Sweet syndrome. Sweet syndrome in the context of cytopaenia should alert the presence of malignancy. An acquired autoinflammatory condition should be explored in relapsing Sweet syndrome with myelodysplastic syndrome. A minimum follow-up of 6 months is recommended.
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Anemia , Leucemia Mieloide Aguda , Síndromes Mielodisplásicos , Síndrome de Sweet , Humanos , Masculino , Síndrome de Sweet/diagnóstico , Síndrome de Sweet/tratamiento farmacológico , Estudios de Seguimiento , Estudios Retrospectivos , Recurrencia Local de Neoplasia , Síndromes Mielodisplásicos/complicaciones , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/tratamiento farmacológico , Anemia/complicacionesRESUMEN
Monoallelic NLRC4 gain-of-function variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold-induced urticaria-like lesions (or familial-cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large family with six consecutive generations affected. Genetic analyses detected the heterozygous p.Ser445Pro NLRC4 variant in three patients, which has been previously reported in a Dutch family with FCAS4. We aimed to describe the clinicopathological features and the functional consequences of the detected NLRC4 variant. Patients presented an early-onset (3 months-6 years) inflammatory disease characterized by recurrent panniculitis, fever and arthralgia. Histopathological examination showed perivascular and interstitial lymphohistiocytic infiltrates in the dermis and mixed panniculitis. Functional analysis supported the conclusion that the p.Ser445Pro NLRC4 variant leads to a constitutive activation of NLRC4-inflammasome and increased plasma levels of IL-18. Prompt recognition of early-onset panniculitis through clinicopathological examination and laboratory biomarkers may allow targeted therapies.
Asunto(s)
Proteínas Adaptadoras de Señalización CARD , Paniculitis , Humanos , Virulencia , Proteínas Adaptadoras de Señalización CARD/genética , Síndrome , Paniculitis/genética , Fenotipo , Proteínas de Unión al Calcio/genéticaAsunto(s)
Azetidinas , Purinas , Pirazoles , Sulfonamidas , Humanos , Azetidinas/uso terapéutico , Azetidinas/administración & dosificación , Pirazoles/administración & dosificación , Pirazoles/uso terapéutico , Sulfonamidas/administración & dosificación , Purinas/administración & dosificación , Purinas/uso terapéutico , Administración Oral , Trastornos por Fotosensibilidad/tratamiento farmacológico , Femenino , Resultado del Tratamiento , Masculino , Enfermedades Cutáneas GenéticasAsunto(s)
Azetidinas , Purinas , Pirazoles , Sulfonamidas , Humanos , Azetidinas/uso terapéutico , Azetidinas/administración & dosificación , Pirazoles/administración & dosificación , Pirazoles/uso terapéutico , Sulfonamidas/administración & dosificación , Purinas/administración & dosificación , Purinas/uso terapéutico , Administración Oral , Trastornos por Fotosensibilidad/tratamiento farmacológico , Femenino , Resultado del Tratamiento , Masculino , Enfermedades Cutáneas GenéticasAsunto(s)
Neoplasias Cutáneas , Femenino , Humanos , Anciano , Neoplasias Cutáneas/diagnóstico , Diagnóstico DiferencialAsunto(s)
Herpes Zóster , Liquen Plano , Persona de Mediana Edad , Masculino , Humanos , Piel , Herpes Zóster/diagnósticoRESUMEN
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but severe drug hypersensitivity reaction with potentially life-threatening consequences. It is characterised by fever, extensive maculopapular exanthema, lymph node enlargement, abnormal blood cell counts, and organ-related complications. Diagnosis can be challenging due to incomplete or non-specific symptoms, and it can sometimes manifest as a purely systemic disease. Discontinuation of the causative drug is essential. Treatment may involve corticosteroids and supportive care. Genetic screening for specific markers, such as human leucocyte antigen (HLA)-A*68, A11:01, and A29:02, can help identify individuals at risk for severe reactions to benznidazole, a drug used to treat Chagas disease. This case report describes the rarity and severity of DRESS syndrome, underscoring the potential benefit of genetic screening to prevent adverse reactions in patients with Chagas disease.
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Introduction: Localized bullous pemphigoid (LBP) is an infrequent bullous pemphigoid (BP) variant restricted to a body region. According to the most compelling evidence, LBP occurs in patients with pre-existent serum antibodies against the basement membrane zone, which occasionally acquire the capacity to induce disease after the influence of different local factors acting as triggers. Methods: We hereby present a multicenter cohort of 7 patients with LBP developed after local triggers: radiotherapy, thermal burns, surgery, rosacea, edema and a paretic leg. In addition, we conducted a review of the literature, and we propose a set of diagnostic criteria for LBP, also based on our case series and the 2022 BP guidelines from the European Academy of Dermatology and Venereology. Results: During follow-up, three of the patients from our series evolved to a generalized BP, with only one requiring hospitalization. Our literature search retrieved 47 articles including a total of 108 patients with LBP, with a 63% with a potential local precipitating factor previous to their diagnosis. LBP mostly affected older females, and a subsequent generalized progression occurred in 16.7% of the cases. The most frequently involved areas were the lower limbs. Radiation therapy and surgery were responsible for the inducement of nearly 2 in 3 cases of LBP. We observed a significantly higher risk of generalization in cases where the trigger led to the developing of LBP earlier (p=0.016). Our statistical analysis did not detect any other prognosis factor for generalization when assessing direct immunofluorescence, histological and serological results, or other patient related factors. Conclusion: LBP should be suspected in patients with recurrent localized bullous eruptions. The presence of a trauma history in the same anatomic area is reported in most cases.