RESUMEN
BACKGROUND: Pathogenic mutations in caspase recruitment domain-containing protein 14 (CARD14) lead to CARD14-associated papulosquamous eruption, which shares clinicopathologic findings with psoriasis and pityriasis rubra pilaris. We aimed to describe distinguishing histopathologic features of CARD14-associated papulosquamous eruption. METHODS: This retrospective study examined the histopathologic features of specimens from patients with confirmed CARD14-associated papulosquamous eruption and adult patients with plaque psoriasis and pityriasis rubra pilaris. RESULTS: Lesional skin biopsies from patients with CARD14-associated papulosquamous eruption consistently showed alternating checkerboard parakeratosis and orthokeratosis, acanthosis without acantholysis, and dilated vessels in the dermal papillae, with some cases also showing follicular plugging. CONCLUSION: CARD14-associated papulosquamous eruption has a range of findings, with a predominance of features typically associated with pityriasis rubra pilaris.
Asunto(s)
Proteínas Adaptadoras de Señalización CARD/genética , Guanilato Ciclasa/genética , Proteínas de la Membrana/genética , Pitiriasis Rubra Pilaris/patología , Psoriasis/patología , Enfermedades Cutáneas Papuloescamosas/patología , Adulto , Anciano , Biopsia , Estudios de Casos y Controles , Exantema/patología , Humanos , Persona de Mediana Edad , Mutación , Pitiriasis Rubra Pilaris/metabolismo , Proteínas/genética , Psoriasis/metabolismo , Estudios Retrospectivos , Piel/patología , Enfermedades Cutáneas Papuloescamosas/metabolismoRESUMEN
BACKGROUND: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors. OBJECTIVE: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. METHODS: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. RESULTS: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. LIMITATIONS: Relatively small sample size. CONCLUSIONS: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.
Asunto(s)
Proteínas Adaptadoras de Señalización CARD/genética , Fármacos Dermatológicos/uso terapéutico , Dermatosis Facial/genética , Guanilato Ciclasa/genética , Proteínas de la Membrana/genética , Enfermedades Cutáneas Papuloescamosas/tratamiento farmacológico , Enfermedades Cutáneas Papuloescamosas/genética , Ustekinumab/uso terapéutico , Edad de Inicio , Niño , Preescolar , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Fenotipo , Pitiriasis Rubra Pilaris/genética , Psoriasis/genética , Psoriasis/terapia , RetratamientoRESUMEN
BACKGROUND: Mucosal lichen planus (MLP) is a therapeutic challenge in need of a new treatment approach because of its debilitating effect on patient's quality of life. OBJECTIVE: We sought to evaluate a standardized treatment plan for patients with MLP. A second objective was to describe the effect of mycophenolate mofetil in this patient population. METHODS: The study retrospectively analyzed 53 patients with MLP treated using a standardized algorithm. The number of MLP lesions, disease activity, and pain at the last visit were compared with baseline scores determined at the initial visit. Results were analyzed using the paired samples t test and confirmed with the Wilcoxon matched pairs signed rank test. RESULTS: The average number of lesions was reduced from 3.77 to 1.67 (P < .001). The average disease activity was reduced from 2.73 to 0.90 (P < .001). Average pain reported decreased from 2.03 to 1.03 (P < .001). LIMITATIONS: This study was a retrospective analysis of a small patient population. There was no universal symptom severity scale used at the time of treatment for some patients. CONCLUSION: The standardized treatment plan reduced symptoms for patients with MLP. Mycophenolate mofetil appears to be a reasonable treatment option for these patients.
Asunto(s)
Algoritmos , Liquen Plano/diagnóstico , Liquen Plano/tratamiento farmacológico , Ácido Micofenólico/uso terapéutico , Calidad de Vida , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Femenino , Humanos , Incidencia , Liquen Plano/epidemiología , Liquen Plano Oral/diagnóstico , Liquen Plano Oral/tratamiento farmacológico , Liquen Plano Oral/epidemiología , Masculino , Persona de Mediana Edad , Mucosa Bucal/patología , Membrana Mucosa/patología , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Resultado del TratamientoRESUMEN
Granuloma annulare is frequently described in association with numerous systemic conditions and is often refractory to treatment. This retrospective review explored a large patient cohort to further strengthen associated comorbid conditions and assess response to different treatments in patients with granuloma annulare. This study found that patients with granuloma annulare frequently carried a diagnosis of hypothyroidism. Additionally, the highest rate of improvement in any treatment category was seen with pentoxifylline use. Thus, should be further explored as a first-line therapeutic option in the treatment of granuloma annulare.