Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional / Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center

Antecedentes y objetivo La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios caracterizado por un aumento de la fragilidad mucocutánea. El objetivo del presente estudio es describir las características clínicas y epidemiológicas de los pacientes con EB atendidos en el Hospital Universitario La Paz, centro de referencia nacional para EB hereditaria. Material y método Estudio observacional, retrospectivo y unicéntrico. Se incluyeron todos los pacientes con diagnóstico clínico y molecular de EB atendidos en el Servicio de Dermatología del Hospital Universitario La Paz desde el 1 de enero de 2000 hasta el 28 de febrero de 2021. Resultados Se registraron 214 pacientes, con una edad mediana de 17 años (RIQ: 8-32); el 54,2% fueron mujeres. Las formas clínicas correspondieron a EB distrófica con 135 (63,1%) casos, EB simple con 67 (31,3%) casos, EB juntural con ocho (3,7%), EB Kindler con tres (1,4%) casos y EB adquirida con un (0,5%) caso. El 35,5% de los pacientes procedían de Madrid. Las complicaciones clínicas más frecuentes en nuestra serie fueron el prurito (63,1%), las infecciones locales (56,5%) y el dolor (54,7%). Las complicaciones más graves fueron las cardíacas (5,6%) y la aparición de CCE (10,3%). Fallecieron 22 pacientes (10,3%). Conclusiones La forma clínica predominante fue la EBDR. Las complicaciones más prevalentes fueron el prurito, el dolor y las infecciones, y las más graves, la miocardiopatía y el CCE. Es un estudio pionero realizado en nuestro país que permitirá implementar estrategias para mejorar la situación sociosanitaria de los pacientes con EB (AU)

Background and objective Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB. Material and methods Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital's dermatology department from January 2, 2000, to February 28, 2021. Results A total of 214 cases were studied. The median (interquartile range) age was 17 (8–32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died. Conclusions Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB (AU)

Epidermolysis Bullosa in Spain: Observational Study of a Cohort of Patients Treated in a National Referral Center. / Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional.

BACKGROUND AND OBJECTIVE: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB. MATERIAL AND METHODS: Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital's dermatology department from January 2, 2000, to February 28, 2021. RESULTS: A total of 214 cases were studied. The median (interquartile range) age was 17 (8-32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died. CONCLUSIONS: Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.

Placa erosiva y costrosa auricular en paciente con antecedente de quemadura en la infancia / Erosive and crusty plaque located in the ear of a patient with a childhood burn history

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Miocardiopatía dilatada en una niña con epidermólisis ampollar distrófica recesiva / Dilated Cardiomyopathy in a Child with Recessive Dystrophic Epidermolysis Bullosa

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Granuloma aséptico facial idiopático: hallazgos clínicos y ecográficos de 3 casos / Idiopathic Facial Aseptic Granuloma: Clinical and Ultrasound Findings in 3 Cases

El granuloma aséptico facial idiopático es una entidad propia de la infancia que se caracteriza por la presencia de uno o varios nódulos asintomáticos en la mejilla. Aunque su patogenia no está clara, se ha sugerido que pueda pertenecer al espectro de la rosácea infantil. Resuelve espontáneamente pero puede plantear dudas diagnósticas con otras lesiones que sí requieren tratamiento. Presentamos los hallazgos clínicos y ecográficos y la evolución, tanto clínica y ecográfica, de 3 nuevos casos. En 2 pacientes, la lesión se presentó en el contexto de una rosácea infantil. En ecografía, el granuloma aséptico facial idiopático mostró un patrón característico, con variaciones en función del momento evolutivo. La ecografía de alta frecuencia puede facilitar el diagnóstico diferencial, evitando biopsias o extirpaciones innecesarias

Idiopathic facial aseptic granuloma is a typical childhood disease characterized by the presence of one or more asymptomatic nodules on the cheek. Although pathogenesis remains unclear, the disease is thought to be a type of childhood rosacea. It resolves spontaneously, yet it could be confused with other lesions that require treatment. We present clinical and ultrasound findings and outcome from 3 new cases. In 2 cases, the lesion presented as childhood rosacea. Ultrasound revealed a characteristic pattern, with variations depending on the stage of development. High-frequency ultrasound can facilitate the differential diagnosis and thus obviate unnecessary biopsy or excision

Idiopathic Facial Aseptic Granuloma: Clinical and Ultrasound Findings in 3 Cases. / Granuloma aséptico facial idiopático: hallazgos clínicos y ecográficos de 3 casos.

Idiopathic facial aseptic granuloma is a typical childhood disease characterized by the presence of one or more asymptomatic nodules on the cheek. Although pathogenesis remains unclear, the disease is thought to be a type of childhood rosacea. It resolves spontaneously, yet it could be confused with other lesions that require treatment. We present clinical and ultrasound findings and outcome from 3 new cases. In 2 cases, the lesion presented as childhood rosacea. Ultrasound revealed a characteristic pattern, with variations depending on the stage of development. High-frequency ultrasound can facilitate the differential diagnosis and thus obviate unnecessary biopsy or excision.

Lesiones periorificiales en una niña / Periorificial lesions in a young girl

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Retroniquia: estudio ecográfico y tratamiento quirúrgico de un caso / Retronychia: A Case Report Including Ultrasound Imaging and Surgical Treatment

La retroniquia es un proceso emergente en el que la parte proximal de la lámina ungueal se encarna en el pliegue ungueal proximal, produciendo una paroniquia crónica refractaria a terapias antimicrobianas. La ecografía se ha postulado como la prueba no invasiva de confirmación y para diagnóstico diferencial, sobre todo con afecciones tumorales y artríticas locales. La presencia de dos o más láminas ungueales superpuestas y la disminución de la distancia entre el origen de la lámina ungueal y la base de la falange distal podrían ser los criterios ecográficos distintivos de esta entidad. La avulsión quirúrgica de la lámina ungueal es la terapia de elección y curativa de la misma. Su conocimiento todavía está poco difundido entre los dermatólogos, ocasionando errores y demoras diagnósticas y terapéuticas, lo que nos ha motivado a la presentación de un nuevo caso

Retronychia is a recently described disorder caused by ingrowth of the proximal nail plate into the proximal nail fold. This situation provokes chronic paronychia refractory to antimicrobial therapy. Ultrasound has been proposed as the noninvasive method of choice to confirm the diagnosis and rule out other differential diagnoses, particularly local tumors and arthritic disease. The presence of 2 or more overlapping nail plates and a reduced distance between the root of the nail plate and the base of the distal phalanx could be the ultrasound hallmarks of this condition. Nail plate avulsion is the treatment of choice and is curative. Knowledge of retronychia is still limited among dermatologists, which can lead to diagnostic and therapeutic errors and delay. This has prompted us to present this new case

Retronychia: A Case Report Including Ultrasound Imaging and Surgical Treatment. / Retroniquia: estudio ecográfico y tratamiento quirúrgico de un caso.

Retronychia is a recently described disorder caused by ingrowth of the proximal nail plate into the proximal nail fold. This situation provokes chronic paronychia refractory to antimicrobial therapy. Ultrasound has been proposed as the noninvasive method of choice to confirm the diagnosis and rule out other differential diagnoses, particularly local tumors and arthritic disease. The presence of 2 or more overlapping nail plates and a reduced distance between the root of the nail plate and the base of the distal phalanx could be the ultrasound hallmarks of this condition. Nail plate avulsion is the treatment of choice and is curative. Knowledge of retronychia is still limited among dermatologists, which can lead to diagnostic and therapeutic errors and delay. This has prompted us to present this new case.

Schwannoma de la lengua / Schwannoma of the Tongue

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