Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.

Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.

Clinical Approach to Patients with Moderate-to-Severe Atopic Dermatitis: A Spanish Delphi Consensus.

Despite emerging evidence and advances in the management of atopic dermatitis there a lack of consensus regarding the diagnostic criteria, therapeutic approach, method to assess severity, and patient follow-up for this condition. An expert consensus study was conducted to provide recommendations on the management of patients with moderate-to-severe atopic dermatitis. The study used Delphi-like methodology based on a literature review, a summary of the scientific evidence, and a 2-round survey. The agreement of 60 panellists on 21 statements was evaluated. Consensus was pre-defined as ≥ 80% agreement of all respondents. In the first round 6 statements reached consensus. Unanimous consensus was achieved regarding therapeutic goals and patient satisfaction (maintained in the long term and periodic goals reassessment recommended every 3-6 months). In the second round, half of the statements reached consensus, all related to patient follow-up, treatment goals, and atopic comorbidities. The statements that did not reach consensus were related to diagnosis (biomarkers, allergy, and food testing) and starting patients on conventional systemic treatment rather than advanced treatment. The study assessed expert opinion regarding a variety of topics related to the clinical approach to patients with moderate-to-severe atopic dermatitis, in order to provide guidance on the diagnosis and management of patients with atopic dermatitis.

Hydrocolloid dressing for the treatment of severe diaper dermatitis.

Diaper dermatitis is a common dermatosis that usually responds to adequate hygiene and topical treatment, but can be a therapeutic challenge. Continuous exposure to feces and urine can cause extensive erosions and pain. The use of hydrocolloid dressings may be helpful in keeping the skin isolated from stool and urine, reducing pain, and enabling skin lesions to heal. We explain an easy technique, utilizing stoma powder and a hydrocolloid dressing, for parents to apply at home.

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation.

A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.

Inter- and intra-observer variability in the selection of therapy for infantile hemangiomas among pediatric dermatologists in Spain.

BACKGROUND: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae. OBJECTIVE: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH. METHODS: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry. Twenty-seven pediatric dermatologists were invited to participate in a survey with 50 clinical vignettes randomly selected within the registry. Each vignette contained a picture of an infantile hemangioma with a clinical description. Raters chose therapy among observation, topical timolol, or oral propranolol. The same survey reordered was completed 1 month later to assess intra-rater agreement. Vignettes were stratified into hemangioma risk categories following the Spanish consensus on IH. The agreement was measured using kappa statistics appropriate for the type of data (Gwet's AC1 coefficient and Gwet's paired t test). RESULTS: Twenty-four dermatologists completed the survey. Vignettes represented 7.8% of the Spanish hemangioma registry. The inter-rater agreement on the treatment decision was fair (AC1  = 0.39, 95% confidence interval [CI]: 0.30-0.47). When stratified by risk category, good agreement was reached for high-risk hemangiomas (AC1  = 0.77, 95% CI: 0.51-1.00), whereas for intermediate- and low-risk categories, the agreement was only fair (AC1 0.31, 95% CI: 0.16-0.46 and AC1  = 0.38, 95% CI: 0.27-0.48, respectively). Propranolol was the main option for high-risk hemangiomas (86.4%), timolol for intermediate-risk (36.8%), and observation for low-risk ones (55.9%). The intra-rater agreement was good. The inter-rater agreement between pediatric dermatologists on the treatment of IH is only fair. Variability was most significant with intermediate- and low-risk hemangiomas.

Safety Profile and Tolerability of Topical Phosphodiesterase 4 Inhibitors for the Treatment of Atopic Dermatitis: A Systematic Review and Meta-Analysis.

Objective: Evaluate the safety profile and tolerability of topical phosphodiesterase 4 (PDE4) inhibitors versus vehicle as treatment for atopic dermatitis in published studies. Methods: A search was performed in Medline/PubMed, Web of Science, and Cochrane Library databases on September 27, 2021, by 1 evaluator, without restrictions on publication dates or languages. Terms such as atopic dermatitis, phosphodiesterase 4 inhibitors, calcineurin inhibitors, and randomized controlled trials were included. The database searches were carried out by 1 evaluator. The titles and abstracts were reviewed for the identification and evaluation of potentially eligible studies. Study selection was made by two reviewers, so there was no intra-examiner statistic at the study selection step. The full-text articles were reviewed to determine whether or not they would be included in the systematic review. Global analyses, which included studies with both unclear and low risk of bias and subanalyses of studies with a low risk of bias were performed. Results: Out of 237 identified articles, 14 clinical trials were included in the meta-analysis. In global analyses of studies with low and unclear risk of bias, topical treatment with PDE4 inhibitors did not differ from vehicle treatment in global treatment emergent adverse events (relative risk = 0.99; 95% CI, 0.87-1.14; P = 0.94) or in serious emergent adverse events appearance (relative risk = 0.92; 95% CI, 0.39-2.20; P = 0.86). In subanalyses of studies with a low risk of bias, a reduced rate of atopic dermatitis exacerbation was observed in PDE4 inhibitors compared with the vehicle (relative risk = 0.62; 95% CI, 0.39-0.98; P = 0.04) and risk of pain at the application site was confirmed (relative risk = 2.59; 95% CI, 1.27-5.28; P = 0.01). Conclusions: PDE4 inhibitors did not show differences from vehicle treatment in treatment emergent adverse events or serious emergent adverse events incidence. In studies with low risk of bias, PDE4 inhibitors had a statistically significant risk of producing pain and reduced occurrence of atopic dermatitis exacerbation.

Chronic urticaria in children under 15 years of age: Clinical experience beyond the clinical trials.

BACKGROUND/OBJECTIVES: The aim of the study was to describe the clinical characteristics, management, and outcome of a series of children with chronic urticaria (CU). METHODS: We retrospectively studied children aged <15 years diagnosed with CU in a tertiary teaching hospital in Palma de Mallorca, Spain, between January 2014 and March 2019. CU was defined as persistence of symptoms of wheals, with or without angioedema, for >6 weeks. RESULTS: Twenty-nine patients (17 girls, mean age 8 years) were included. Family history of atopy was found in 31% of the cases. In 41.3% of patients, episodes of CU were associated with angioedema. Physical triggers were found in 34.5% of the cases. Most episodes of CU were successfully managed with the recommended (60.7%) or double the recommended dose (17.2%) of H1-antihistamines. Quadruple the recommended dose of H1 antihistamines was used in six patients, five of whom were finally treated with off-label omalizumab. Treatment with anti-leukotrienes was needed in one patient. Associated thyroiditis was diagnosed in one patient, which was controlled with levothyroxine. CONCLUSIONS: Pediatric CU showed features similar to CU in adulthood, including a greater predominance in females and frequent association with personal or family history of atopy. Adult guidelines for the treatment of CU are currently extrapolated to the pediatric population. Specific tools for the assessment of disease activity and impairment of quality of life in pediatric CU are needed for use in prospective studies aimed to define treatment strategies for children with CU.

Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus.

In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.

Exserohilum rostratum, a rare cause of opportunistic skin infection in children: Case report and review of the literature.

Exserohilum species are environmental molds that may rarely cause skin and nasal infections, especially in immunocompromised children. We present a 3-year-old girl with acute leukemia who presented with a skin infection caused by Exserohilum rostratum. Previously published cases of skin infections by Exserohilum spp. in children are reviewed.

Expanding the phenotypes of congenital hemangiomas.

Congenital hemangiomas (CH) are benign vascular tumors that are present at birth and do not stain for the marker Glut-1. Herein, we describe five cases of CH with atypical presentations: 3 with late growth, 1 with slow involution, and 1 that partially involuted rapidly then manifested late growth.

Folliculotropic mycosis fungoides in a pediatric patient with response to psoralen-ultraviolet A phototherapy.

Mycosis Fungoides is the most common cutaneous T-cell lymphoma however, it is rare in children. We present the case of a Folliculotropic Mycosis Fungoides in a 13-year-old boy which initially presented as a plaque on his face and was treated with local PUVA therapy. Afterwards the lesions spread so the treatment was changed to systemic PUVA with good response. Although the experience in the treatment of Mycosis Fungoides in pediatric patients is limited, PUVA therapy seems to be an effective and safe option.

Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. The objective of the study was to identify a specific clinical sign in the congenital venous malformations (VMs) of the BRBNS to distinguish them from the conventional VMs. Clinical histories of all patients diagnosed with BRBNS were reviewed, including those who presented a large VM at birth. Clinical characteristics of congenital VM associated with BRBNS were recorded. Five patients with BRBNS were found to have a large VM since birth. All of them presented a fern-shaped patch over the surface of the VM. CONCLUSION: The finding of this macroscopic sign in the evaluation of the newborn with a VM could be considered as a guiding syndromic herald which should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications. What is Known: • BRBNS is a rare vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. • Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. What is New: • Recognition of a fern-shaped patch in neonates with a VM should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications.

Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.

BACKGROUND: Infantile hemangiomas with minimal or arrested growth are vascular tumors with a proliferative component involving < 25% of their total surface area. They are commonly described as localized lesions and are mainly located on the lower body. Little has been described about segmental forms on the face and their associations with PHACE syndrome. METHODS: We carried out a multicenter, retrospective, case-series study involving 5 hospitals in Spain. Information was collected on cases of PHACE syndrome featuring infantile hemangiomas with minimal or arrested growth. RESULTS: The frontotemporal and maxillary areas were the most frequently involved sites in our series. The upper eyelid and upper lip were the 2 locations most frequently associated with proliferation and ulceration. Four patients experienced spontaneous resolution, and the rest had a very good cosmetic outcome with oral treatment. Cerebral and cervical arterial anomalies were the most frequent extracutaneous findings associated with PHACE, followed by cerebral and ocular anomalies. Some unique associated disorders were fructose intolerance and retinoblastoma. CONCLUSION: We present the largest case series of segmental facial infantile hemangiomas with minimal or arrested growth in PHACE syndrome and emphasize the importance of recognizing these lesions in early infancy, because they can indicate PHACE syndrome. The data presented suggest that infantile hemangiomas with minimal or arrested growth-associated PHACE syndrome does not seem to differ significantly from PHACE syndrome with classic infantile hemangiomas, and thus the same recommendations for diagnosis, management, and therapy should be followed. Future studies with more patients could contribute to enlighten this specific subset.

Dermoscopic Visualization of Vellus Hair Involvement in Tinea Corporis: A Criterion for Systemic Antifungal Therapy?

Dermoscopy has been shown to be a valuable tool in the diagnosis and monitoring of several infectious diseases. We report a case of tinea corporis in an infant in whom dermoscopy helped us to determine vellus hair involvement, causing treatment to be switched from topical to systemic antifungal therapy.

Digestive tract symptoms in congenital langerhans cell histiocytosis: a fatal condition in an illness usually considered benign.

INTRODUCTION: Congenital Langerhans cell histiocytosis is usually limited to cutaneous lesions and has a good prognosis. In rare cases of gut involvement, mortality is high and early and aggressive treatment essential. MATERIALS AND METHODS: We report a case of histiocytosis in a newborn with bowel involvement, and performed a literature review of 13 similar cases worldwide documented between 1973 and 2008. RESULTS: Skin eruptions are usually the initial symptoms at birth. Bloody stools or protein-losing enteropathy are the first signs of bowel involvement that appear mostly in the first 4 weeks of life. Risk organs (hematopoietic system, liver, spleen) are often affected in the newborns with intestinal Langerhans cell histiocytosis. Prognosis is usually poor, with 78.5% mortality. CONCLUSIONS: Even if histiocytosis in a neonate appears limited to autoinvoluting skin lesions, it is important to exclude all other organ involvement, including the bowel and stomach, as early treatment is vital.

Streptococcus pyogenes cervical intertrigo with secondary bacteremia.

We report a 12-month-old infant girl with cervical intertrigo caused by Streptococcus pyogenes. This form of intertrigo has been reported in only five children, but it is clearly underestimated. It should be suspected for well-demarcated beefy-red lesions of the neck not responding to antifungal therapy. A rapid streptococcal antigen test of a lesion specimen is a useful diagnostic tool. Our patient was notable for the development of S. pyogenes bacteremia, a complication that has not been previously associated with this condition.