Dupilumab treatment in paediatric atopic dermatitis (2 to 18 years): Spanish multicentre retrospective real-life study.

BACKGROUND: Moderate-to-severe atopic dermatitis (AD) can be difficult to manage in paediatric patients, with few licensed treatments in this age group. Dupilumab is approved for AD in children older than 6 months. OBJECTIVES: To assess the effectiveness and safety of dupilumab in a real-life cohort of paediatric AD patients in Spain. METHODS: A multicentre, retrospective real-life study on the effectiveness and safety of dupilumab in patients aged 2 to 18 years old with moderate-to-severe AD was conducted. Demographic and clinical characteristics were analysed, and effectiveness (EASI, IGA, DLQI, NRS itch), safety, and drug survival measures were assessed. A comparison of our results with other real-world outcomes and with clinical trials was made. RESULTS: Data from 243 patients from 19 centres was collected, with a mean follow-up of 85 weeks. Dupilumab exhibited significant effectiveness, with marked reductions in severity scores from week 4. By week 16, 79.4% of patients reached EASI75 and 40.5% reached EASI90. Mean percentage reduction in EASI was 79.7%. Increasing improvements were observed until week 52, with 85.8% and 49.6% achieving EASI75 and EASI90, respectively. Forty-three patients developed adverse events (AE) (43/243, 17.7%), being the most frequent ocular surface diseases (20/243, 8.2%), injection site reactions (8/243, 3.3%) and facial redness (7/243, 2.9%). Drug survival was high (96.9% and 93.1% after 1 and 2 years of follow-up, respectively), with only 19 (19/243, 7.8%) patients interrupting treatment: 7 (7/243, 2.9%) due to AE, 2 (2/243, 0.82%) due to secondary failure, 5 (5/243, 2.1%) were lost to follow-up and 5 (5/243, 2.1%) entered remission and stopped treatment. CONCLUSION: Real-life use of dupilumab in paediatric AD showcased sustained effectiveness, high drug survival, and acceptable safety profiles. Longer-term studies are crucial for AE surveillance and how to manage disease remission.

Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.

Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%-30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia-like syndromes due to trichoscopy findings, absence of response to long-term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

BACKGROUND: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy. The clinical utility of genetic testing is expected to increase progressively with improved theragnostics, which will be based on information about the efficacy and safety of the emerging drugs and future molecules. The aim of this study was to make recommendations for optimising and guiding the diagnostic genetic testing for somatic variants in patients with vascular malformations. RESULTS: Physicians and lab specialists from 11 multidisciplinary European centres for vascular anomalies reviewed the genes identified to date as being involved in non-hereditary vascular malformations, evaluated gene-disease associations, and made recommendations about the technical aspects for identification of low-level mosaicism and variant interpretation. A core list of 24 genes were selected based on the current practices in the participating laboratories, the ISSVA classification and the literature. In total 45 gene-phenotype associations were evaluated: 16 were considered definitive, 16 strong, 3 moderate, 7 limited and 3 with no evidence. CONCLUSIONS: This work provides a detailed evidence-based view of the gene-disease associations in the field of vascular malformations caused by somatic variants. Knowing both the gene-phenotype relationships and the strength of the associations greatly help laboratories in data interpretation and eventually in the clinical diagnosis. This study reflects the state of knowledge as of mid-2023 and will be regularly updated on the VASCERN-VASCA website (VASCERN-VASCA, https://vascern.eu/groupe/vascular-anomalies/ ).

Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.

We report two cases with localized vascular malformations clinically resembling the "dominant lesion" seen in capillary malformation-arteriovenous malformation (CM-AVM) syndrome, however, lacking germline RASA1 variants but presenting double somatic RASA1 variants in affected tissue. Both patients presented with localized and superficial high-flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic RASA1 variants, contributes to understanding the "second-hit" pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.

Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy.

Phacomatosis pigmentokeratotica (PPK) is a RASopathy characterized by the presence of a sebaceous nevus and a papular speckled lentiginous nevus. This case report highlights the associated extracutaneous comorbidities, including life-threatening arrhythmia, and introduces topical rapamycin as a potential therapeutic avenue for sebaceous nevus in PPK patients.

S2k guidelines on diagnosis and treatment of linear IgA dermatosis initiated by the European Academy of Dermatology and Venereology.

INTRODUCTION: Linear IgA dermatosis (LAD) is a rare subepidermal autoimmune bullous disease (AIBD) defined by predominant or exclusive immune deposits of immunoglobulin A at the basement membrane zone of skin or mucous membranes. This disorder is a rare, clinically and immunologically heterogeneous disease occurring both in children and in adults. The aim of this project is to present the main clinical features of LAD, to propose a diagnostic algorithm and provide management guidelines based primarily on experts' opinion because of the lack of large methodologically sound clinical studies. METHODS: These guidelines were initiated by the European Academy of Dermatology and Venereology (EADV) Task Force Autoimmune Bullous Diseases (AIBD). To achieve a broad consensus for these S2k consensus-based guidelines, a total of 29 experts from different countries, both European and non-European, including dermatologists, paediatric dermatologists and paediatricians were invited. All members of the guidelines committee agreed to develop consensus-based (S2k) guidelines. Prior to a first virtual consensus meeting, each of the invited authors elaborated a section of the present guidelines focusing on a selected topic, based on the relevant literature. All drafts were circulated among members of the writing group, and recommendations were discussed and voted during two hybrid consensus meetings. RESULTS: The guidelines summarizes evidence-based and expert opinion-based recommendations (S2 level) on the diagnosis and treatment of LAD. CONCLUSION: These guidelines will support dermatologists to improve their knowledge on the diagnosis and management of LAD.

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

El pediatre davant un lactant amb hemangioma infantil / El pediatra ante un lactante con hemangioma infantil / The pediatrician and the infant with hemangioma

FONAMENT: L'hemangioma infantil (HI) és el tumor benigne més freqüent en la infància, de manera que el pediatre d'atenció primària ha d'estar familiaritzat amb les seves principals característiques distintives, ja que és el primer que tindrà l'oportunitat de ferne el diagnòstic. OBJECTIU: Descriure el diagnòstic, l'evolució, la derivació precoç a dermatologia pediàtrica I el tractament oportú de lactants amb HI. MÈTODE:. Descripció de quatre casos d'infants amb HI que tenen lloc en primera instància a la consulta d'atenció primària del pediatre, detallant el procés de diagnòstic, evolució, tractament I seguiment, a partir de les últimes revisions bibliogràfiques I les guies clíniques disponibles. RESULTATS: Els casos presentats són un bon exemple del maneig actual del lactant amb HI. CONCLUSIONS: Disposar d'un diagnòstic és el primer pas, que ha de continuar amb uns altres dos: fer un control evolutiu proper del lactant, que ens permetrà en els casos necessaris derivar l'infant a dermatologia pediàtrica, I la contenció familiar, ja que l'impacte psicològic de l'HI en l'infant I la família no és extrapolable entre pacients amb el mateix tumor. El pediatre ha de conèixer els diferents camins que cal seguir després del diagnòstic: si només necessita fer un seguiment evolutiu, en quines circumstàncies ha de sol·licitar exàmens complementaris, o si ha de derivar de manera precoç a dermatologia pediàtrica pel risc de complicacions o seqüeles. La valoració individualitzada de la localització, la mida I la presència de factors de risc de l'HI influiran en el moment d'inici I la modalitat de tractament

FUNDAMENTO: El hemangioma infantil (HI) es el tumor benigno más frecuente en la infancia, por lo que el pediatra de atención primaria debe estar familiarizado con sus principales características distintivas, pues es el primero que tendrá la oportunidad de realizar su diagnóstico. OBJETIVO: Describir el diagnóstico, la evolución, la derivación precoz a dermatología pediátrica y el tratamiento oportuno de lactantes con HI. MÉTODO: Descripción de cuatro casos de niños con HI que tienen lugar en primera instancia en la consulta de atención primaria del pediatra, detallando el proceso de diagnóstico, evolución, tratamiento y seguimiento, a partir de las últimas revisiones bibliográficas y las guías clínicas disponibles. RESULTADOS: Los casos presentados ejemplifican el manejo actual del lactante con HI. CONCLUSIONES: Disponer de un diagnóstico es el primer paso, el cual debe continuarse con otros dos: realizar un control evolutivo cercano del lactante, que nos permitirá en los casos necesarios derivar al niño a dermatología pediátrica, y la contención familiar, pues el impacto psicológico del HI en el niño y la familia no es extrapolable entre pacientes con el mismo tumor. El pediatra debe conocer los diferentes caminos a seguir tras el diagnóstico: si solo necesita realizar un seguimiento evolutivo, en qué circunstancias solicitar exámenes complementarios, o si debe derivar de forma precoz a dermatología pediátrica por el riesgo de complicaciones o secuelas. La valoración individualizada de la localización, el tamaño y la presencia de factores de riesgo del HI influirán en el momento de inicio y la modalidad de tratamiento

BACKGROUND: Infantile hemangioma (IH) is the most common benign tumor of children, so the primary care pediatrician should be familiar with its main features, as it is the first one that will have the opportunity to make its diagnosis. OBJECTIVE: To describe the diagnosis, evolution, early referral to the pediatric dermatologist and timely treatment of infants with IH. METHOD: Description of four cases of children with IH that take place in the first instance in the pediatrician's primary care office, detailing the process of diagnosis, evolution, treatment and follow-up, based on the latest bibliographic reviews and clinical guides available. RESULTS: The cases presented exemplify the current management of the infant with IH. CONCLUSIONS: Diagnosis is the first step, which must be continued with two others: carry out a close follow-up of the infant and prompt referral to a pediatric dermatologist when required, and family support, as the psychological impact of IH in children and families cannot be extrapolated among patients with the same tumor. The pediatrician must know the different paths to follow after the diagnosis: close follow-up, when to request complementary evaluations, and when to refer to the pediatric dermatologist due to the risk of complications or sequelae. Individual assessment of the location, size and presence of IH risk factors will influence the time of onset and the treatment modality

Investigación de una sospecha de brote de lipoatrofia semicircular en niños / Investigation of a suspected outbreak of lipoatrophia semicircularis in children

Antecedentes y objetivo: Los informes recientes sobre brotes de lipoatrofia semicircular (LS) en diversos países han generado debate acerca del papel potencial de las características ambientales de los puestos de trabajo en los nuevos edificios. El objetivo de este estudio fue investigar la sospecha de un brote de LS entre los niños de una guardería pública de Barcelona, lo cual generó una tremenda alarma. Métodos: Realizamos una valoración epidemiológica, incluyendo análisis descriptivo y de prevalencia, y una investigación ambiental seguida de una valoración psiquiátrica de acuerdo con los criterios de Small. Comparamos la prevalencia de LS y su intervalo de confianza del 95% entre los niños y entre el personal de la guardería en estudio, y con otros centros. Resultados: Entre los 86 niños que acudieron a la guardería detectamos 11 casos confirmados y 2 casos posibles de LS (15,1%), y entre los 41 niños que acudieron a otros centros identificamos 8 casos confirmados y 4 casos posibles (29,3%) (p=0,10). Entre el personal de la guardería, detectamos 8 casos de LS (66,7%), y entre las 19 mujeres que trabajaban en otros sitios identificamos 14 con la misma condición que el personal (73,7%) (p=0,98). Se clasificaron finalmente todas las lesiones como hendiduras con diferentes localizaciones. La evaluación ambiental no identificó ningún factor de riesgo con relación significativa con la aparición del brote. Dicho brote compartió 13 de los criterios de Small en relación con el trastorno somatoforme epidémico («histeria colectiva»). Conclusión: La presencia de hendiduras puede considerarse como una variante de la normalidad en las extremidades inferiores de los niños. El desarrollo característico del proceso nos conduce a la conclusión de que este brote fue un trastorno somatoforme epidémico (AU)

Background and objective: Recent reports of outbreaks of lipoatrophia semicircularis (LS) in various countries have generated discussion regarding the potential role of the environmental characteristics of office workplaces in new buildings. The objective of this study was to investigate a suspected outbreak of LS among children in a public school in Barcelona, which generated tremendous alarm. Methods: We performed an epidemiological assessment including descriptive and prevalence analyses, and an environmental investigation followed by a psychiatric assessment according to Small's criteria. We compared the prevalence of LS and its 95% confidence interval between children and staff attending the day-care centre under study and other centres. Results: Among 86 children attending a day-care centre we detected 11 confirmed and 2 possible cases of LS (15.1%) while among 41 children attending other day-care centres we identified 8 cases and 4 possible cases (29.3%) (P=.10). Among 12 day-care staff, we detected 8 cases of LS (66.7%) while among 19 women working different jobs we identified 14 with the same condition as the staff (73.7%) (P=.98). All lesions were finally classified as indentations with different locations. The environmental evaluation didn’t identify any exposure factors with a significant role in the onset of the outbreak. The outbreak shared 13 of Small's 16 criteria regarding epidemic somatoform disorder (‘mass hysteria’). Conclusion: The presence of indentations can be considered a normal variant in the lower extremities of children. The characteristic development of the process leads us to the conclusion that this outbreak was an epidemic somatoform disorder (AU)

Hemangiomes de la infància / Update in pediatric hemangiomas

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Liquen estriado sistematizado bilateral / Systematized bilateral lichen striatus

El liquen estriado es una dermatosis autolimitada, de etiología desconocida y que se presenta como una erupción de pápulas liquenoides siguiendo las líneas de Blaschko. Presentamos el caso de una niña sana de 7 meses de edad que presentó una erupción generalizada de pápulas eritematomarronáceas, algunas de aspecto liquenoide y otras hiperqueratósicas, que seguían un patrón lineal generalizado en tronco y extremidades. Debido a la importante extensión de la erupción y a su distribución blaschkoide se plantearon otros diagnósticos como la incontinencia pigmenti y el nevo epidérmico. En la historia familiar destacaba que su hermana de 2 años presentaba desde los 6 meses de edad una erupción lineal diagnosticada de liquen estriado. En la literatura especializada existen pocos casos descritos de liquen estriado generalizado bilateral. La existencia de una hermana también afectada de liquen estriado puede indicar un posible origen viral (AU)

Tratamiento de la dermatitis atópica en la infancia / No disponible

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