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.

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.

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.