RESUMO
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, monogenic interferonopathy caused by gain-of-function variants in STING1 (TMEM173) characterized by systemic inflammation, cutaneous vasculopathy, and interstitial lung disease. We report a case of SAVI attributed to a novel STING1 p.R284T variant who demonstrated characteristic cutaneous features including telangiectasias, livedo and acrocyanotic changes on face and extremities, as well as saddle nose deformity, failure to thrive, inflammatory arthritis and notable lack of pulmonary disease or autoantibody positivity. Due to the risk for progressive and irreversible lung and tissue damage and evolving therapeutic landscape involving the use of Janus kinase inhibitors, it is critical to recognize variable clinical phenotypes to diagnose and consider treatment options for SAVI patients early in their disease course.
Assuntos
Proteínas de Membrana , Humanos , Proteínas de Membrana/genética , Dermatopatias Vasculares/genética , Dermatopatias Vasculares/diagnóstico , Dermatopatias Vasculares/patologia , Lactente , Masculino , Feminino , Mutação com Ganho de FunçãoRESUMO
Patients diagnosed with keratinocyte cancer experience heightened risk for melanoma, yet patients who go on to develop this malignancy have not been well-characterized. We followed a population-based cohort of 2243 participants with histologically confirmed KC identified from dermatology and pathology practices who did not have a history of internal malignancy (1363 BCC, 880 SCC). A total of 77 participants went on to develop melanoma. Individual-level data were collected via personal interviews including demographic information and skin cancer risk factors, as well as KC tumor characteristics such as anatomic site and histologic subtype. Using adjusted Cox proportionate hazards models, older patients (age 61 or older vs 60 or younger) were at twofold increased risk for developing melanoma following KC (age 61-65 HR = 2.5; 95% CI = 1.3-4.6) (age > 65 HR = 2.0; 95% CI = 1.2-3.4) and women were at reduced risk compared to men (HR = 0.5; 95% CI = 0.3-0.8). Among patients with BCC, those with tumors on the trunk/limbs compared to the head/neck were at greater risk for subsequent melanoma (HR = 2.7; 95% CI = 1.3-5.7). Subsequent risk of melanoma also related to established risk factors including blond/red vs dark hair (HR = 1.9; 95% CI = 1.1-3.4), tendency to burn rather than tan (HR = 1.7; 95% CI = 1.0-2.7), ≥1 nevi on their back compared to no nevi (HR = 2.2; 95% CI = 1.2-3.8) and a history of ≥1 painful childhood sunburns vs none (HR = 2.1; 95% CI = 1.2-3.6). Thus, in addition to pigmentary traits, ultraviolet radiation (UVR)-related factors and clinical features of KC such as anatomic site may be useful in identifying patients at increased risk for melanoma after KC.
Assuntos
Queratinócitos/patologia , Melanoma/patologia , Neoplasias Cutâneas/patologia , Idoso , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/patologia , Estudos de Coortes , Extremidades/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nevo/patologia , Fatores de RiscoRESUMO
Eosinophilic annular erythema is a rare, benign, recurrent condition characterized by annular skin lesions, tissue eosinophilia, and resistance to a variety of treatments. There are fewer than 30 cases reported in the English literature, 7 of which are in children. We present a case of recurrent eosinophilic annular erythema in an adolescent that was successfully treated with dupilumab, an interleukin-4 receptor alpha antagonist.
Assuntos
Anticorpos Monoclonais/uso terapêutico , Eritema/tratamento farmacológico , Subunidade alfa de Receptor de Interleucina-4/antagonistas & inibidores , Dermatopatias Genéticas/tratamento farmacológico , Adolescente , Anticorpos Monoclonais Humanizados , Eosinofilia/complicações , Eosinófilos , Feminino , HumanosRESUMO
BACKGROUND: The impact of dermatology consultation on the care of children with oncologic conditions is unknown. OBJECTIVE: To review outpatient dermatology visits and the resulting impact on diagnosis and management of pediatric oncology patients. METHOD: Retrospective review of pediatric oncology patients with outpatient dermatology visits at a tertiary care center from 2008 to 2015. RESULTS: The most common dermatologic diagnoses in 516 patients were skin infections (21.3%) and nonmalignant skin eruptions (33.4%). A diagnosis of significant impact (ie, malignancy, adverse cutaneous drug reaction, graft-versus-host disease, varicella-zoster virus, or herpes simplex virus infection), was made at the dermatology clinic in 14.7% of visits. Consultation resulted in a change in diagnosis in 59.8% of patients, change in dermatologic management in 72.4% of patients, and change in management of noncutaneous issues in 12.4% of patients. LIMITATIONS: The use of electronic medical records, the nongeneralizable study population, and the retrospective design represent potential limitations. CONCLUSION: Outpatient dermatology consultation can affect the care of pediatric oncology patients with respect to diagnosis and treatment of skin conditions and management of nondermatologic issues.
Assuntos
Neoplasias/diagnóstico , Pacientes Ambulatoriais/estatística & dados numéricos , Melhoria de Qualidade , Encaminhamento e Consulta/estatística & dados numéricos , Dermatopatias Infecciosas/diagnóstico , Adolescente , Assistência Ambulatorial/métodos , Criança , Pré-Escolar , Bases de Dados Factuais , Dermatologia , Gerenciamento Clínico , Feminino , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/epidemiologia , Hospitais Pediátricos , Humanos , Lactente , Masculino , Neoplasias/terapia , Pediatria , Prognóstico , Estudos Retrospectivos , Medição de Risco , Dermatopatias Infecciosas/epidemiologia , Centros de Atenção Terciária , Resultado do TratamentoRESUMO
Patients with underlying malignancy who develop new skin findings while acutely ill often require skin biopsy for histologic evaluation and/or culture to reach a diagnosis. Here, we present the case of a 53-year-old male with relapsed diffuse large B-cell lymphoma on chemotherapy who developed new skin lesions on the leg. On exam, there were 2 nickel-sized, erythematous to violaceous round plaques with central necrotic cores on the right lower leg with relatively nonspecific clinical features for which the initial differential diagnosis was broad. Consensus on a diagnosis was reached upon histologic evaluation of his skin biopsy in the context of his clinical setting. This diagnosis led to a change in treatment plan, with subsequent clinical improvement.
RESUMO
It is well-known that UV light exposure and a sun-sensitive phenotype are risk factors for the development of non-melanoma skin cancer (NMSC), including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). In this New Hampshire population-based case-control study, we collected data from 5,072 individuals, including histologically confirmed cases of BCC and SCC, and controls via a personal interview to investigate possible associations between photosensitizing medication use and NMSC. After adjustment for potentially confounding factors (e.g., lifetime number of painful sunburns), we found a modest increase in risk of SCC (odds ratio (OR)=1.2, 95% confidence interval (CI)=1.0-1.4) and BCC (OR=1.2, 95% CI=0.9-1.5), in particular early-onset BCC, (≤ 50 years of age) (OR=1.5, 95% CI=1.1-2.1) associated with photosensitizing medication use. For SCC the association was strongest among those with tendency to sunburn rather than tan. We also specifically found associations with BCC, and especially early-onset BCC, and photosensitizing antimicrobials. In conclusion, certain commonly prescribed photosensitizing medications may enhance the risk of developing SCC, especially in individuals with a sun-sensitive phenotype, and may increase the risk of developing BCC and incidence of BCC at a younger age.