Effectiveness and Safety of Dupilumab in Children Under 6 Years of Age with Moderate-to-Severe Atopic Dermatitis: A Retrospective Real-World Study.

INTRODUCTION: Dupilumab has recently been shown to be effective in children under 6 years of age with atopic dermatitis (AD). Nevertheless, real-life and long-term follow-up data are scarce. We aimed to assess the effectiveness, safety, and long-term outcomes of dupilumab in a daily-practice setting in this age group. METHOD: This was a retrospective observational cohort study. Only patients with 16 or more weeks of treatment were included in the analysis. The proportion of patients who achieved ≥75% or 90% reduction from baseline EASI (EASI75 and EASI90, respectively) and the percentage of patients who achieved vIGA 0-1 were analyzed at 4, 16, 48, 72, and 96 weeks (when available). Adverse events were recorded during follow-up. RESULTS: A total of 19 patients <6 years old with moderate-to-severe AD were included in the cohort, with a median age of 4.7 years (range: 2.6-5.9). The median weeks on dupilumab were 51.3 (IQR: 24.6-79.3). EASI75 was achieved in 11/19 patients (57.9%) at w4, 16/19 (84.2%) at w16, 9/12 (75%) at w48, 6/6 (100%) at w72, and in 2/2 (100%) at week 96. The objective of vIGA 0-1 was reached by 10/19 patients (51.6%) at w4, by 14/19 (73.7%) at w16, by 9/12 (75%) at w48, by 5/6 (83.3%) at w72, and by 2/2 (100%) at w96. Dupilumab was discontinued in 3 patients (15.8%) due to loss of response. One patient developed a paradoxical palmo-plantar eruption. We found no cases of conjunctivitis, facial erythema, or injection-site reactions related to dupilumab. CONCLUSIONS: Dupilumab was effective and safe in our cohort of patients with moderate-to-severe AD under 6 years of age. Response was maintained in the long term in most patients with longer follow-up. Its adverse effect profile was similar to that found in older children and adults.

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disease caused by pathogenic variants in connexin 26 (gene GJB2), which is part of the transmembrane channels of the epithelia. Connexin 26 is expressed mainly in the cornea, the sensory epithelium of the inner ear, and in the skin keratinocytes, which are the three main target organs in KID syndrome. Approximately a dozen pathogenic variants have been described to date, including some lethal forms. Patients with lethal pathogenic variants present with severe symptoms from birth and die from sepsis during the first year of life. We present a premature female patient with KID syndrome carrying the lethal p.Ala88Val pathogenic variant in GJB2. In addition to the respiratory distress associated with this variant, our patient presented severe hypercalcemia of unexplained origin refractory to treatment. This abnormality has not been reported earlier in other patients with KID syndrome with the same variant.

Patient Characteristics and Treatment Patterns in European Pediatric Patients with Psoriasis: A Real-World, Cross-Sectional Study.

INTRODUCTION: This study evaluated patient characteristics and treatment patterns according to weight in pediatric patients with psoriasis in a real-world setting. METHODS: Primary care and specialist physicians treating pediatric patients with psoriasis aged 6-17 years in five European countries were surveyed in the 2019-2020 Adelphi Real World Pediatric Psoriasis Disease Specific Programme. At least two patients with current or previous biologic use were included per physician. Patient characteristics and treatment patterns were analyzed overall and for patients weighing 25-50 kg or more than 50 kg. RESULTS: Data from 772 patients weighing 25-50 kg and 1147 weighing more than 50 kg were analyzed. Median age at diagnosis was significantly less in lighter than heavier patients (10.0 vs. 14.0 years; p < 0.001), as was median disease duration (2.2 vs. 3.0 years; p < 0.001). Topical treatments were prescribed in 59.0% of patients overall (70.3% of lighter and 51.4% of heavier patients; p < 0.001), and were used to treat mild rather than moderate-to-severe psoriasis. Conventional systemic use was low (10.8% of patients overall) and predominantly for moderate-to-severe psoriasis. In this biologic-enriched sample, most biologics (78.2%) were prescribed in older (> 13 years) patients. Biologic use increased with line of therapy (6.6% of first-line, 18.0% of second-line, 33.7% of third-line, 44.7% of fourth-line treatments). CONCLUSION: Biologics are predominantly prescribed in older (> 13 years) and heavier (> 50 kg) patients, with little first- or second-line use. The low use of biologics in European pediatric patients with psoriasis may represent an unmet treatment need, as topical or conventional systemic agents remain the main treatment option for moderate or severe psoriasis in these patients through the treatment pathway.

This study looked into types of treatments according to body weight in children with psoriasis, since approved dosing regimens for some treatments are based on body weight. Primary care and specialist physicians treating children with psoriasis aged 6­17 years in five European countries completed a survey. Patient information for those receiving specific types of psoriasis treatments were collected. Of the children included, 772 weighed 25­50 kg and 1147 weighed more than 50 kg. Most children received treatments applied to the skin, such as creams and ointments; this occurred in 70% of lighter patients and in 51% of heavier patients. Conventional treatments taken via the mouth were prescribed in a few patients (11% [overall]), while newer biologic drugs were taken to a greater extent in heavier (30%) than lighter (16%) patients. Most biologics (78%) were prescribed in older (> 13 years) patients. Biologic use increased with the number of failed previous treatments, comprising 7%, 18%, 34%, and 45% of first, second, third, and fourth treatments, respectively. We conclude that children with psoriasis who are treated with biologic drugs are predominantly older and heavier, and have more severe psoriasis. Prescriptions for biologics are given after many other treatments have been tried.

Metastatic neuroblastoma mimicking an infantile hemangioma.

Neuroblastoma is the most common solid tumor malignancy in the first year of life. We present a rare case of a 5-month-old girl with an infraorbital tumor that simulated an infantile hemangioma clinically but was ultimately diagnosed as metastatic neuroblastoma.

Botulinum Toxin A Treatment for Primary and Secondary Raynaud's Phenomenon in Teenagers.

BACKGROUND: Raynaud's phenomenon (RP) is a clinical syndrome characterized by recurrent episodes of digital vasospasm triggered by exposure to physical and chemical agents or emotional stress. Although many pharmacologic treatments have been tested, there is still no cure or gold standard therapy. Botulinum toxin treatment has been proved to reduce pain and increase arterial blood flow in treated hands of adult patients with RP. OBJECTIVE: The aim of this study is to evaluate the efficacy of botulinum toxin A on younger than 18-year-old patients with primary and secondary RP. MATERIALS AND METHODS: A single-center prospective study was performed, including 8 patients aged 14 to 17 years who were clinically diagnosed with primary or secondary RP. BTX was injected into each hand without sedation or anesthetic blockade. The primary outcome was pain reduction after BTX injection. Pain intensity was evaluated at baseline and in the first follow-up. Secondary outcomes included variations in the number and severity of RP episodes after the BTX injection. RESULTS: All patients stated significant pain reduction and decreased cold sensitivity, except one patient who did not feel any changes. No patients reported any loss of strength on thumb-index finger. CONCLUSION: BTX injection is a simple, noninvasive, and cost-effective treatment alternative, offering an important nonsurgical therapeutic option for the pediatric population. It could also help optimize the dose of other treatments used in these patients. The most commonly observed positive effect is a reduction in the pain associated with RP attacks. Further studies are needed to confirm these results.

Chronic sole ulcer in a child with dyskeratosis congenita: An atypical wound successfully treated with punch grafting.

Dyskeratosis congenita (DC) is an unusual inherited disease characterized by the triad of mucosal leukoplakia, nail dystrophy, and skin pigmentation. Hyperkeratosis of the palms and soles is another reported skin finding. This hyperkeratosis can lead to fissures, chronic erosion, and deep ulcerations. These atypical wounds are not only a diagnostic but a therapeutic challenge for clinicians, and there are no standardized treatments for these types of chronic wounds. Punch grafting is a traditional and minimally invasive technique to enhance wound healing, and it has been associated with significant and quick pain reduction in ulcers with various underlying causes. Herein, we describe a patient with DC with a chronic and refractory plantar ulcer successfully treated with punch grafting.

Staphylococcal toxic shock syndrome in a child with interleukin-17 inhibitor treatment for psoriasis.

A 6-year-old girl presented with fever, skin rash, anuria, and conjunctivitis that rapidly progressed to toxic shock syndrome. Following hospital discharge, she developed a staphylococcal abscess on the lower extremity. She had recently received the first two doses of the interleukin-17 (IL-17) inhibitor secukinumab for resistant plaque psoriasis. IL-17 is known to be essential in host defense against Staphylococcus aureus. To our knowledge, this is the first reported case of staphylococcal toxic shock syndrome (STSS) associated with an IL-17 inhibitor.

Ischemic ulcers of the toes secondary to Raynaud's phenomenon in a child successfully treated with botulinum toxin.

Raynaud's phenomenon (RP) is an episodic vasospastic response to cold or emotional stress causing color changes and pain. These attacks can lead to digital ischemia, ulcers, and gangrene. Severe and refractory RP in children is a therapeutic challenge for clinicians because there are no standardized treatment protocols for these patients. We present a case of RP involving the toes of a child successfully treated with botulinum toxin A.

Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.

Cutaneous ultrasound and its utility in Pediatric Dermatology: Part II-Developmental anomalies and vascular lesions.

High-frequency ultrasonography represents a promising tool for pediatric dermatologists. It is a noninvasive and harmless diagnostic technique that is especially appealing when working with children. It can be easily performed at the patient's bedside, avoiding diagnostic delays, sedation, or multiple visits. It represents a useful adjunct to clinical examination and aids our understanding of cutaneous pathology. In this second part, we describe the ultrasonographic findings of developmental anomalies and vascular lesions.

Cutaneous ultrasound and its utility in pediatric dermatology. Part I: Lumps, bumps, and inflammatory conditions.

High-frequency ultrasonography represents a promising tool for pediatric dermatologists. It is a non-invasive diagnostic technique that is particularly appealing when working with children. It can be easily performed at the patient's bedside, avoiding diagnostic delays, sedation, or multiple visits. It represents a useful adjunct to clinical examination and can enhance our understanding of cutaneous diseases. Patient cooperation and limited training and experience are the main challenges for cutaneous ultrasonography in pediatric dermatology. This review describes cutaneous ultrasonography and the nuances of its use in the pediatric setting, followed by the ultrasonographic findings of cutaneous lumps, bumps, and inflammatory dermatoses commonly encountered in pediatric patients.

Movement artifacts in pediatric cutaneous ultrasonography.

BACKGROUND: Cutaneous ultrasonography can be challenging in children. We aim to identify the most complicated cases and the best timing for assessment. METHODS: We retrospectively reviewed sonographic exams in pediatric patients from our cutaneous ultrasonography clinic over a two-year period. Movement artifacts were classified according to their consequences and their frequency was studied in relation to the age of the patient, location of the lesion, and underlying pathology. RESULTS: The overall frequency of exams affected by movement artifacts was 16.76% (91/543) and all belonged to children younger than 4 years of age. The frequency of impaired sonographies was particularly low in patients aged 0 to 4 months (12.77%; 6/47) and particularly high in children aged from 4 to 12 months (56.60%; 60/106). Regarding location, exams were more frequently disadvantaged when assessing the head and neck area (44.53%; 61/137). In relation to pathology, developmental anomalies showed a significantly higher frequency of exams damaged by movement artifacts (41.82%; 23/55). CONCLUSIONS: Cutaneous ultrasonography without sedation can be particularly difficult in children aged between 4 and 12 months, especially when lesions are located on the head and neck and a Doppler exam is required. When assessing congenital lesions, the first four months of life are ideal for a first examination.

Jellyfish-like sonographic pattern can help recognition of dermatofibrosarcoma protuberans. Report of 3 new cases and review of the literature.

High-frequency ultrasonography (HFUS) can help improve dermatofibrosarcoma protuberans (DFSP) recognition. We present three cases of DFSP in which a "jellyfish-like" sonographic pattern was a useful adjunct in formulating the diagnosis. In addition, we review all DFSP ultrasound images available in the literature.

Delayed granulomatous reaction and cutaneous fistula induced by retained electrodes from a cardiac pacemaker in a child.

Permanent epicardial pacing wires are sometimes left in place and can lead to long-term complications. We report on a case of a granulomatous reaction with a cutaneous fistula secondary to the retained epicardial pacing wires in a child and highlight the relevance of sonography as an additional tool in the diagnosis and management of dermatologic conditions.

Dermatophytosis of the diaper area: Case report and literature review.

Dermatophytosis in infants is rare, especially dermatophytosis of the diaper area. This case report and literature review provides keys to establishing the above diagnosis and discusses the current controversies concerning the use of antifungal drugs in this age group.