Humanistic and Economic Burden of Atopic Dermatitis in Pediatric Patients in Spain: A Systematic Review.

Atopic dermatitis (AD) is a chronic, inflammatory skin disease affecting all age groups, particularly children. This systematic review provides an overview of the humanistic and economic disease burden in the pediatric population with AD in Spain. The evidence, collected from 11 observational studies published over the past 10 years, exhibits the most common characteristics of the patients, disease burden, patient-reported outcomes, use of resources, and treatment patterns. The burden of AD extends beyond physical symptoms, with associated comorbidities such as asthma and impaired health-related quality of life and mental health disorders, particularly in severe cases. Traditional therapies, primarily topical corticosteroids, face adherence and efficacy challenges. Despite promising innovative treatments and available biological therapies, their use is still limited in the pediatric population. The findings of the present review highlight the scarce scientific evidence on the economic burden of pediatric AD, as well as the most updated humanistic evidence on this disease. At the same time, the need for individualized care and innovative therapeutic interventions to address the multifaceted challenges of pediatric AD in Spain is evident.

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.

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.

First symposium of ichthyosis experts.

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject.

Nodular lesions arising in a large congenital melanocytic naevus in a newborn with eruptive disseminated Spitz naevi.

Congenital malignant melanoma within a pre-existing large congenital melanocytic naevus (CMN) is exceedingly rare. Its incidence is difficult to determine due to the small number of reported cases and because of problems associated with diagnosis. Some benign nodular proliferations (called proliferative nodules) arising in CMN, while rare, are significantly more common and can mimic malignant melanoma clinically or histologically. There are no reported cases of congenital melanoma or benign proliferative nodules in CMN in patients who also had eruptive disseminated Spitz naevi. We describe a girl who was noted to have a dark-brown plaque with several large erythematous nodules affecting the scalp at delivery, in addition to multiple erythematous dome-shaped papules that developed in a disseminated manner over several months, beginning at 10 days of age. It was difficult, not only clinically but also histologically, to determine the benign or malignant nature of all of these lesions. As primary cutaneous melanoma, atypical proliferative nodules in CMN, bland CMN or CMN with foci of increased cellularity and Spitz naevi show clear differences in the genetic aberration patterns, comparative genomic hybridization (CGH) could be a diagnostic help in ambiguous cases such as this. CGH performed on this patient showed multiple DNA copy number changes in the most atypical nodule, but such alterations could not be found in the remainder of the lesions. CGH showed differences between the nodular lesions that occurred in the CMN and helped us in supporting the diagnosis of this unique case of benign proliferative nodules and a possible congenital melanoma arising in a large CMN, associated with multiple widespread eruptive Spitz naevi.

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.

[Incontinentia pigmenti. Initial and long-term characteristics]. / Incontinentia pigmenti. Manifestaciones iniciales y a largo plazo.

We report two cases of incontinentia pigmenti diagnosed in the neonatal period. Both patients presented with disseminated vesicular lesions. Neither patient had extra-dermatological symptoms at diagnosis. The definitive diagnosis was established by cutaneous biopsy. In the initial phase of the disease, the lesions can be similar to those of herpes simplex infection, but characteristic distribution and clinical course allow the differential diagnosis to be established. This disease should be included in the differential diagnosis of vesicular rashes because early detection allows better management of the possible associated systemic manifestations.

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.

[Topical cyclosporine in the treatment of ocular actinic prurigo]. / Ciclosporina tópica como tratamiento del prúrigo actínico ocular.

CASE REPORT: A 14-year-old girl from Peru suffered severe limbitis and conjunctivitis. She also presented with clinical skin features diagnosed as actinic prurigo (AP). Her symptoms were successfully controlled with sustained topical therapy of 2% Cyclosporine A. DISCUSSION: AP is an idiopathic photodermatosis that affects mainly the hispanic population of Latin America. There are ocular signs of severe limbitis and conjunctivitis (like atopic keratoconjunctivitis) in 45% of cases. Literature on the subject is very limited and currently topical cyclosporine seems to be the best therapy available.

[The skin as an expression of neurological alterations in the neonate]. / La piel como expresión de alteraciones neurológicas en el recién nacido.

The skin is involved in many different genetic syndromes and diseases with multiple organ involvement. Neurodevelopmental disorders appear in many of these entities and knowledge of these cutaneous alterations may provide clues to their diagnosis. Recognizing these skin disorders in the newborn allows early identification of neonates with a biological risk of epilepsy and motor and/or cognitive disorders and enables them to be followed up. This helps to plan the management of these patients and, in many entities, to predict their natural history and provide genetic counseling to the family. This review examines the cutaneous signs that may provide important clues in the neonate that help to identify entities that carry a risk of neurodevelopmental disorders in the neonate.