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.

Clinical presentation, sonographic features and treatment options of segmental stiff skin syndrome.

Segmental stiff skin syndrome is a rare genetic connective tissue disease, which is often misdiagnosed. High-frequency ultrasonography can represent a useful clinical adjunct in the differential diagnosis of this condition, in conjunction with the clinical and histopathological findings. Treatment options are limited and evidence is scarce. We present the clinical, sonographic and histological features of five paediatric patients diagnosed at our institution and discuss their response to treatment.

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.

Epidemiological, clinical and therapeutic aspects in special situations: hidradenitis suppurativa in paediatric patients. / Aspectos epidemiológicos, clínicos y terapéuticos en situaciones especiales: hidradenitis supurativa infantil.

Hidradenitis suppurativa usually develops in the third decade of life and is infrequent in children and adolescents. This article reviews the scant epidemiological clinical and therapeutic data that are available for this age group. From the epidemiological point of view, reports have been more numerous in children, which has been related to hormone alterations and with a possibly higher genetic load than when this disease develops in adults. Clinically, it seems that when hidradenitis suppurativa develops in young patients, there is greater disease extension. The therapeutic approach is especially complex, since there is hardly any scientific evidence to serve as a basis for decisions. The challenges posed by this disease are to help patients accept their disease, recommend them healthy lifestyle habits and choose the most appropriate treatment for each patient.

Utilidad de la ecografía de alta frecuencia en el diagnóstico de las pápulas piezogénicas / Usefulness of High-Frequency Ultrasound in the Diagnosis of Piezogenic Pedal Papules

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