Pediatric Dermatology最新文献

Congenital vascular malformations associated with segmental overgrowth and PIK3CA variants are well-documented and are classified within the PIK3CA-related overgrowth spectrum (PROS), yet PIK3CA-associated segmental undergrowth is a less understood entity. We present a case of a patient with a capillary venous malformation (CVM) and limb undergrowth associated with a pathogenic PIK3CA variant (p.Glu453Lys). An updated classification system should be considered to more broadly encompass variable phenotypic presentations of PIK3CA-related disorders, including segmental undergrowth. We propose novel terminology such as PIK3CA-related altered growth spectrum (PRAGS).

Objective: To assess self-reported knowledge and reactions of health professionals in the delivery room (HPDR) when facing a congenital skin lesion (CSL).

Methods: A cross-sectional study was conducted at Angers University Hospital Maternity, Angers, France, between October and December 2023. All HPDR staff, including gynecologists, pediatricians, midwives, and nurses, were invited to complete an anonymous semiquantitative survey.

Results: We obtained a total of 88 participants out of 180 HPDR (response rate: 48.8%). Forty-six percent of CSL definitions were incorrect, although 66% of HPDR had received some level of training about CSLs. The mean self-assessed knowledge score was 2.4/10. Emotional responses to CSLs were varied, including professional interest (34%) but also unease and shock (11%). HPDR acknowledged that their reactions could have an impact on parents (mean score: 8.3/10), and they indicated a desire for supplementary training in recognizing CSLs (mean score: 8.4/10) and adopting communication strategies (mean score: 8.3/10).

Conclusions: We confirm that HPDR have a lack of knowledge regarding CSL and difficulties managing these lesions. This lack of knowledge can have consequences for patients and parents, and for HPDR themselves. Body image and the potential physical and psychological impacts of visible lesions are increasingly recognized as critical aspects of care in dermatology. HPDR report a lack of knowledge about CSLs and a desire for training to be able to support families.

Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3-year-old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype-phenotype correlation in the ANTXR2 gene and HFS.

Angiokeratoma circumscriptum (AKC) is a rare congenital vascular malformation that often mimics other skin conditions such as verrucous venous malformation. We report a case of AKC in a 9-year-old male presenting with a pruritic, hyperkeratotic lesion growing proportionally to his body since birth. The diagnosis of AKC was determined based on a constellation of clinical findings, histopathologic examination with immunohistochemistry, and ultrasound technique. This case provides a photo representation of a rarely reported skin condition in a patient with skin of color and highlights the importance of using multiple diagnostic tools to distinguish AKC from other differential diagnoses.

Current treatment guidelines suggest that patients with moderate-to-severe atopic dermatitis (AD) should be treated with systemic therapies, but evidence on its effectiveness in Latin America is limited. A nationwide, web-based survey was distributed among dermatologists managing children and adolescents with moderate-to-severe AD treated with dupilumab in Argentina to characterize and describe children and adolescents with AD who received dupilumab in a real-world setting. Data from 41 patients (median age: 11.23 years; female: 56.1%) revealed that 61% had developed AD by the age of 1 year or younger; atopic comorbidities were present in 70.7% (asthma 48.8%); methotrexate was the most frequently prescribed systemic therapy (58.5%); the median age at dupilumab initiation was 10 years (interquartile range [IQR]: 6.5-15) and median treatment duration was 1 year (IQR: 0-2). We conclude that treatment with dupilumab was highly effective in controlling moderate-to-severe AD refractory to conventional, guideline-recommended systemic therapies, with adequate control in 87.8% of cases.