RESUMEN
Patients with recessive dystrophic epidermolysis bullosa (RDEB) experience numerous complications, which are exacerbated by inflammatory dysregulation and infection. Understanding the immunological mechanisms is crucial for selecting medications that balance inflammation control and immunocompetence. In this cross-sectional study, aiming to identify potential immunotherapeutic targets and inflammatory biomarkers, we delved into the interrelationship between clinical severity and systemic inflammatory parameters in a representative RDEB cohort. Encompassing 84 patients aged 1-67 and spanning all three Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) severity categories, we analysed the interrelationship of infection history, standard inflammatory markers, systemic cytokines and Ig levels to elucidate their roles in RDEB pathophysiology. Our findings identify C-reactive protein as an excellent biomarker for disease severity in RDEB. A type 2 inflammatory profile prevails among moderate and severe RDEB patients, correlating with dysregulated circulating IgA and IgG. These results underscore the IL4/IL13 pathways as potential evidence-based therapeutic targets. Moreover, the complete inflammatory scenario aligns with Staphylococcus aureus virulence mechanisms. Concurrently, abnormalities in IgG, IgE and IgM levels suggest an immunodeficiency state in a substantial number of the cohort's patients. Our results provide new insights into the interplay of infection and immunological factors in the pathogenesis of RDEB.
Asunto(s)
Biomarcadores , Proteína C-Reactiva , Epidermólisis Ampollosa Distrófica , Interleucina-13 , Interleucina-4 , Índice de Severidad de la Enfermedad , Humanos , Estudios Transversales , Biomarcadores/sangre , Niño , Preescolar , Interleucina-4/sangre , Adolescente , Proteína C-Reactiva/metabolismo , Adulto , Adulto Joven , Femenino , Masculino , Lactante , Persona de Mediana Edad , Interleucina-13/sangre , Interleucina-13/metabolismo , AncianoRESUMEN
OBJECTIVE: Martorell hypertensive ischaemic ulcers are often misdiagnosed and can be a clinical and therapeutic challenge. Controversy exists regarding both their underlying triggers and the type of treatment that should be carried out. This study was designed to compare the effectiveness of punch grafting and conventional therapy in pain reduction. METHOD: A single-centre retrospective study was performed, including 40 patients with a clinical diagnosis of a Martorell ulcer or post-traumatic ulcer secondary to arteriolopathy in the elderly, who were treated with punch grafting (n= 24) or conventional medical treatment (n=16). RESULTS: There was a statistically and clinically significant reduction in pain after punch grafting. The minimal overall reduction was of three points in visual analogue pain scores. Of the patients who received punch grafting, 80% reported a VAS pain score of 0 at the third follow-up, in contrast with the 44% (n=4) patients who were treated without punch grafting. The mean time to epithelialisation was 82.1 days in patients who received conventional treatment and 43.5 days in those who received punch grafts. CONCLUSION: Punch grafting is a simple, validated and cost-effective technique that can be performed on an outpatient basis, promotes wound healing and reduces pain. It may control pain and stimulate epithelialisation even if the wound does not present with optimum wound bed characteristics for graft taking. Pain reduction and faster epithelialisation are associated with improvements in patients' quality of life.
Asunto(s)
Arterioloesclerosis , Úlcera de la Pierna , Úlcera Cutánea , Anciano , Humanos , Úlcera de la Pierna/cirugía , Dolor , Calidad de Vida , Estudios Retrospectivos , Trasplante de Piel/métodos , Úlcera Cutánea/cirugía , ÚlceraRESUMEN
Background/objectives: Psoriasis is the most frequent skin disease in HIV-infected patients. Nonalcohol fatty liver disease (NAFLD) is more prevalent in patients with psoriasis. We report the prevalence of psoriasis and NAFLD and investigate risk factors of liver damage in HIV-infected patients with psoriasis. Methods: We performed a retrospective observational study. Steatosis was defined as indicative abdominal ultrasound findings, CAP (controlled attenuated parameter by transient elastography) > 238 dB/m, and/or triglyceride and glucose index (TyG) > 8.38. Significant (fibrosis ≥ 2) and advanced liver fibrosis (fibrosis ≤ F3) were studied by transient elastography (TE) and/or FIB-4 using standard cutoff points. FIB-4 (Fibrosis 4 score) results were adjusted for hepatitis C (HCV)-coinfected patients. Results: We identified 80 patients with psoriasis (prevalence, 1.5%; 95% CI, 1.1-1.8). Psoriasis was severe (PASI > 10 and/or psoriatic arthritis) in 27.5% of cases. The prevalence of steatosis was 72.5% (95% CI, 65-85). Severe psoriasis was an independent risk factor for steatosis (OR, 12; 95% CI, 1.2-120; p = 0.03). Significant liver fibrosis (p < 0.05) was associated with HCV coinfection (OR 3.4; 95% CI, 1.1-10.6), total CD4 (OR 0.99; 95% CI, 0.99-1), and time of efavirenz exposure (OR 1.2; 95% CI, 1.0-1.3). Conclusions: The prevalence of psoriasis in HIV-infected patients was similar to that of the general population. Steatosis is highly prevalent, and severe psoriasis is an independent risk factor for steatosis in HIV-infected patients.
Asunto(s)
Infecciones por VIH/complicaciones , Cirrosis Hepática/epidemiología , Psoriasis/epidemiología , Adulto , Diagnóstico por Imagen de Elasticidad/estadística & datos numéricos , Femenino , Humanos , Hígado/diagnóstico por imagen , Cirrosis Hepática/complicaciones , Masculino , Persona de Mediana Edad , Prevalencia , Psoriasis/complicacionesRESUMEN
BACKGROUND: Raynaud's phenomenon (RP) is a clinical syndrome characterized by recurrent episodes of digital vasospasm triggered by exposure to physical and chemical agents or emotional stress. Although many pharmacologic treatments have been tested, there is still no cure or gold standard therapy. Botulinum toxin treatment has been proved to reduce pain and increase arterial blood flow in treated hands of adult patients with RP. OBJECTIVE: The aim of this study is to evaluate the efficacy of botulinum toxin A on younger than 18-year-old patients with primary and secondary RP. MATERIALS AND METHODS: A single-center prospective study was performed, including 8 patients aged 14 to 17 years who were clinically diagnosed with primary or secondary RP. BTX was injected into each hand without sedation or anesthetic blockade. The primary outcome was pain reduction after BTX injection. Pain intensity was evaluated at baseline and in the first follow-up. Secondary outcomes included variations in the number and severity of RP episodes after the BTX injection. RESULTS: All patients stated significant pain reduction and decreased cold sensitivity, except one patient who did not feel any changes. No patients reported any loss of strength on thumb-index finger. CONCLUSION: BTX injection is a simple, noninvasive, and cost-effective treatment alternative, offering an important nonsurgical therapeutic option for the pediatric population. It could also help optimize the dose of other treatments used in these patients. The most commonly observed positive effect is a reduction in the pain associated with RP attacks. Further studies are needed to confirm these results.
Asunto(s)
Toxinas Botulínicas Tipo A/uso terapéutico , Fármacos Neuromusculares/uso terapéutico , Enfermedad de Raynaud/tratamiento farmacológico , Adolescente , Toxinas Botulínicas Tipo A/administración & dosificación , Femenino , Humanos , Inyecciones , Masculino , Fármacos Neuromusculares/administración & dosificación , Manejo del Dolor , Dimensión del Dolor , Estudios ProspectivosRESUMEN
Neuroblastoma is the most common solid tumor malignancy in the first year of life. We present a rare case of a 5-month-old girl with an infraorbital tumor that simulated an infantile hemangioma clinically but was ultimately diagnosed as metastatic neuroblastoma.
Asunto(s)
Hemangioma Capilar , Hemangioma , Neoplasias Primarias Secundarias , Neuroblastoma , Femenino , Hemangioma/diagnóstico , Humanos , Lactante , Neuroblastoma/diagnósticoRESUMEN
Dyskeratosis congenita (DC) is an unusual inherited disease characterized by the triad of mucosal leukoplakia, nail dystrophy, and skin pigmentation. Hyperkeratosis of the palms and soles is another reported skin finding. This hyperkeratosis can lead to fissures, chronic erosion, and deep ulcerations. These atypical wounds are not only a diagnostic but a therapeutic challenge for clinicians, and there are no standardized treatments for these types of chronic wounds. Punch grafting is a traditional and minimally invasive technique to enhance wound healing, and it has been associated with significant and quick pain reduction in ulcers with various underlying causes. Herein, we describe a patient with DC with a chronic and refractory plantar ulcer successfully treated with punch grafting.
Asunto(s)
Disqueratosis Congénita , Procedimientos de Cirugía Plástica , Niño , Disqueratosis Congénita/complicaciones , Humanos , Microcirugia , Úlcera , Cicatrización de HeridasRESUMEN
Nilotinib is a new multitargeted tyrosine kinase inhibitor, which is used to treat chronic myelogenous leukemia when intolerance or recurrence to imatinib occurs. We report the case of a 14-year-old patient being treated with nilotinib who developed a keratosis pilaris-like eruption. This cutaneous adverse effect is a rare but increasingly reported side effect of this therapy.
Asunto(s)
Anomalías Múltiples , Enfermedad de Darier , Cejas/anomalías , Adolescente , Antineoplásicos , Proteínas de Fusión bcr-abl , Humanos , Inhibidores de Proteínas Quinasas/efectos adversos , Pirimidinas/efectos adversosRESUMEN
Raynaud's phenomenon (RP) is an episodic vasospastic response to cold or emotional stress causing color changes and pain. These attacks can lead to digital ischemia, ulcers, and gangrene. Severe and refractory RP in children is a therapeutic challenge for clinicians because there are no standardized treatment protocols for these patients. We present a case of RP involving the toes of a child successfully treated with botulinum toxin A.
Asunto(s)
Toxinas Botulínicas Tipo A , Enfermedad de Raynaud , Niño , Humanos , Dolor , Enfermedad de Raynaud/tratamiento farmacológico , Enfermedad de Raynaud/etiología , Dedos del Pie , ÚlceraRESUMEN
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.