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.

Bowel-associated dermatosis-arthritis syndrome, a diagnostic challenge in a young child with very early-onset inflammatory bowel disease.

A 14-month-old girl with very early-onset inflammatory bowel disease (VEO-IBD) was admitted with a flare of her bowel disease and subsequently developed high fevers, joint pain, and skin lesions during her hospitalization. Workup demonstrated bowel-associated dermatosis-arthritis syndrome in the setting of VEO-IBD, a neutrophilic dermatosis rarely reported in children that can be challenging to diagnose and treat, with limited literature for patients under 2 years of age.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Usefulness of high-frequency ultrasonography in the assessment of cutaneous lesions in children with hematologic malignancies.

High-frequency ultrasonography is a bedside tool increasingly used for the assessment of skin lesions, but there have been few reports about its importance in children with skin signs of hematologic disease. We present three cases to highlight the usefulness of high-frequency ultrasonography in assisting with the diagnosis of these skin lesions.

Mucositis Secondary to Chlamydia pneumoniae Infection: Expanding the Mycoplasma pneumoniae-Induced Rash and Mucositis Concept.

The term Mycoplasma pneumoniae-induced rash and mucositis (MIRM) was recently proposed to identify the mucocutaneous condition secondary to M. pneumoniae infection that had historically been regarded among the more confusing pathologies of erythema multiforme and Stevens-Johnson syndrome. Based on a number of previous reports, these syndromes require differentiation since they have different prognoses and specific treatment requirements. We report a case of oral and genital erosions that strongly resembled MIRM without rash but were found to be secondary to a Chlamydia pneumoniae infection. After a thorough review of the literature on this subject, we propose that C. pneumoniae should also be considered a potential causative agent of MIRM and that this term should be amended to include C. pneumoniae infection.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.