European Journal of Pediatric Dermatology

The genetic marker of pediatric atopic dermatitis.

2026-04-11T21:02:46+00:00

This study aims to evaluate the genetic analysis of the interleukin-17A (IL-17A) cytokine gene polymorphism as a valuable tool for understanding susceptibility, clinical course, and development of atopic dermatitis (AD) in the pediatric population.
The investigation into the prevalence and distribution of the IL-17A G-197A (rs2275913) polymorphic variants involved 237 children aged 3 months to 18 years presenting with various clinical forms of AD. All patients were monitored and treated at the Department of Pediatric Dermatology within the Multidisciplinary Pediatric Clinic of the Tashkent State Medical University.
The research highlights the importance of molecular-genetic testing in improving risk assessment accuracy, predicting disease manifestations across different clinical phenotypes, and identifying potential immunogenetic markers for personalized therapeutic approaches. By comparing the genotype and allele frequencies of the IL-17A rs2275913 polymorphism with clinical manifestations and a healthy control group, the reliability of diagnostic and prognostic data was significantly enhanced.
The paper provides a detailed analysis of the distribution of allelic variants (particularly the increased frequency of the A allele) and genotypic combinations (specifically the heterozygous GA genotype) across the exudative, lichenoid, and pruriginous forms of pediatric AD, while demonstrating an absence of significant associations in the erythematosquamous form. Furthermore, the findings underscore the potential role of the A allele and GA genotype as biological susceptibility markers, especially in non-erythematosquamous clinical variants, and their possible interaction with skin barrier defects, such as filaggrin mutations.
This study contributes to the development of a reliable and practical immunogenetic approach for managing AD in pediatric patients, supporting precision medicine strategies tailored to diverse populations, including Central Asian children.

Trouble with skin: Do parents understand the impact skin conditions have on children’s quality of life?

2026-04-19T11:48:55+00:00

Paediatric skin conditions can have a negative impact on the quality of life in patients and their families. The children’s dermatology life quality index score (CDLQI) and the cartoon CDLQI were initially designed and published in 1995. Prior to 1995 there were no well-validated instruments that assessed children’s quality of life in relation to dermatological disease. These questionnaires can be used in children aged 4 to 15 years and 11 months and consist of 10 questions that aim to measure the impact of any skin disease on the lives of children. Often the parent or guardian will fill these questionnaires out on their own, basing their answers on how they feel the disease is impacting the child. Basra and Finlay first proposed the concept of the “Greater patient”. This concept describes the group of people close to the patient who are affected by his/her health condition. The burden atopic dermatitis and psoriasis has on family members has been well described. When assessing the CDLQI of children it is important to get the child’s viewpoint and not just the parents. Measuring the impact a skin condition has on a child is important for clinical management and can guide treatment plans and inform resource allocation decisions.

Nature’s gift: topical human breast milk versus standard treatments for diaper dermatitis – A frequentist network meta-analysis of randomized controlled trials.

2026-05-10T17:54:19+00:00

Objectives. Diaper dermatitis (DD) is a common inflammatory condition in infants, and its management remains challenging. Topical human breast milk (HBM) has emerged as a natural alternative to standard treatments such as hydrocortisone, barrier creams, and education-only interventions. This study conducted a frequentist network meta-analysis (NMA) of randomized controlled trials (RCTs) to compare the efficacy of topical HBM with conventional therapies in reducing DD severity.
Materials and methods. Following PRISMA guidelines (PROSPERO CRD42025633665), six databases were searched through December 2024 to identify RCTs evaluating HBM versus standard DD treatments. Data extraction and quality assessment were independently performed by multiple reviewers using the Cochrane Risk of Bias 2 tool. A random-effects model was applied to calculate standardized mean differences (SMD) with 95% confidence intervals (CI) for the primary outcome, and treatment rankings were generated.
Results. Four RCTs involving a total of 281 infants were included, evaluating five interventions: HBM, hydrocortisone, barrier cream, education only, and placebo. Topical HBM ranked first in efficacy and significantly reduced DD severity compared with education-only (SMD: –0.62 [95% CI: –1.13 to –0.11]) and placebo (SMD: –1.32 [95% CI: –2.00 to –0.63]). Additionally, hydrocortisone (SMD: –1.32 [95% CI: –2.00 to –0.63]) and barrier cream (SMD: –1.15 [95% CI: –2.00 to –0.30]) showed significant benefits over placebo. Consistency analyses confirmed these findings.
Conclusion. In conclusion, topical HBM is a natural, safe, and cost-effective treatment that significantly reduces DD severity. Further multicenter trials employing standardized methodologies are warranted to confirm these results and elucidate the underlying mechanisms.

Vaccination granuloma with confirmed aluminum allergy: two cases and a literature review.

2026-06-04T20:14:12+00:00

Background. Childhood vaccination remains a cornerstone of infection prevention. Aluminum (Al) salts are widely used as adjuvants to enhance vaccine immunogenicity, yet they can occasionally trigger adverse local reactions.
Objective. To highlight clinically and immunologically confirmed cases of aluminum-induced vaccination granulomas and their potential implications for vaccination adherence.
Methods. We report two pediatric cases presenting with pruritic subcutaneous nodules following immunization with Al-containing vaccines at the University Hospital Leuven, Belgium. Both patients underwent patch testing confirming Al sensitization, and ultrasonography demonstrated typical granulomatous lesions at the injection sites.
Results. The combination of confirmed Al hypersensitivity and ultrasound-verified granulomas underscores a clear causal relationship between Al exposure and granuloma formation. These findings stress the importance of recognizing this underdiagnosed condition to avoid unnecessary diagnostic procedures and to guide safe continuation of vaccination schedules.
Conclusion. Aluminum-induced vaccination granulomas, though uncommon, may contribute to incomplete immunization in sensitized children. Early recognition and appropriate management are essential to ensure full protection against preventable infectious diseases.

Adrenoleukodystrophy: short hair with trichoschisis, hypotrichosis of the eyebrows, and onychodystrophy.

2026-04-21T08:59:48+00:00

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired β-oxidation of very-long-chain fatty acids (VLCFAs) and progressive demyelination. Trichothiodystrophy type 8 (TTD8), caused by biallelic variants in the AARS1 gene, is an autosomal recessive disorder characterized by brittle hair, developmental delay, and multisystem involvement, including neurological impairment. We report a rare case of a female patient with severe early-onset leukodystrophy associated with a homozygous variant of the ABCD1 gene and a concomitant variant of the AARS1 gene, presenting with both neurological and ectodermal abnormalities.

Recognizing BASCULE syndrome: a report of four cases.

2026-05-31T10:29:38+00:00

Background. BASCULE syndrome—an acronym for Bier anemic spots, (acro)cyanosis with urticaria-like eruption—is a descriptive clinical entity first identified in 2016. It is a benign, transient vasomotor dermatosis that predominantly affects adolescents and children, typically involving the lower extremities during prolonged standing. Reported associations include electrocardiographic abnormalities and various forms of autonomic dysfunction, most notably postural orthostatic tachycardia syndrome (POTS). Although BASCULE syndrome is considered rare, it is likely underdiagnosed in clinical practice.
Objective. To report a case series from a Belgian tertiary care center (Leuven University Hospitals) to expand current knowledge on BASCULE syndrome and facilitate its timely recognition.
Case presentation. Four adolescent patients (three females and one male) aged 13 to 16 years were identified. All patients presented with the characteristic clinical triad of acrocyanosis, Bier spots, and urticaria-like lesions involving the lower extremities. High-dose antihistamine therapy (desloratadine or bilastine) was initiated in two adolescents, both of whom reported mild symptomatic improvement. Signs of autonomic dysfunction, specifically orthostatic hypotension, were observed in one patient.
Conclusion. This case series of four adolescent patients from a Belgian tertiary center confirms the characteristic clinical findings of BASCULE syndrome across all subjects and underscores the importance of recognizing this benign vasomotor condition.

Infantile hemangioma masquerading as persistent diaper dermatitis in the setting of LUMBAR syndrome with a congenital cutaneous skeletal muscle hamartoma.

2026-05-02T21:49:07+00:00

Diagnostic consideration and identification of infantile hemangiomas (IHs) are critical to prevent complications and determine the potential for extracutaneous comorbidities that require early intervention. We present a patient referred to dermatology for persistent diaper dermatitis then discovered to have an extensive segmental lumbosacral, sacrococcygeal, and pelvic IH complicated by gluteal ulceration that improved with initiation of propranolol and constellation of findings consistent with LUMBAR syndrome prompting additional multisystem evaluation. The patient also presented with a paramedian caudal appendage where excisional histopathology revealed a complex cutaneous hamartoma with mature skeletal muscle differentiation consistent with a rhabdomyomatous mesenchymal hamartoma. This case highlights the essential consideration of anogenital IHs in the differential of refractory diaper dermatitis requiring prompt dermatology evaluation.

Frontal fibrosing alopecia associated with lichen planopilaris: A pediatric case

2026-05-03T09:06:52+00:00

Frontal fibrosing alopecia (FFA) is a variant of lichen planopilaris, characterized by lymphocytic scarring alopecia mainly affecting the frontotemporal hairline. It predominantly occurs in postmenopausal women, while pediatric cases remain extremely rare. We report the case of a 12-year-old girl presenting with progressive hair loss over three years, initially involving the temporal areas and later becoming diffuse with eyebrow involvement. Clinical examination revealed decreased scalp hair density, recession of the frontal and temporal hairline, loss of vellus hairs along the frontal margin, and the presence of “lonely hairs.” Trichoscopy demonstrated perifollicular erythema and scaling, absence of follicular openings, and single hair emergence per follicular unit. Typical features of Alopecia areata, such as black dots, exclamation mark hairs, and yellow dots, were absent. A biopsy taken from the inflamed advancing margin, guided by dermoscopy, showed a perifollicular lymphocytic infiltrate involving the isthmus and infundibulum with interface dermatitis and basal cell vacuolization, confirming the diagnosis of FFA associated with lichen planopilaris. The patient was treated with oral corticosteroids, doxycycline, monthly intralesional betamethasone injections, and vitamin D supplementation. After six months of follow-up, clinical improvement was observed with complete eyebrow regrowth and partial scalp hair regrowth, while the hair pull test became negative and trichoscopy showed vellus and regrowing hairs. This case highlights the importance of considering FFA and LPP in the differential diagnosis of pediatric scarring alopecia and emphasizes the value of dermoscopy in guiding diagnosis, biopsy selection, and disease monitoring.

Onset of epidermolysis bullosa nevus and labial metaplasia following toxic epidermal necrolysis: a case report and review of the literature.

2026-06-09T07:38:38+00:00

Toxic epidermal necrolysis (TEN) is a severe mucocutaneous reaction characterized by widespread epidermal detachment and involvement of multiple mucosal sites. Eruptive melanocytic nevi, including Köbner-type eruptive nevi or epidermolysis bullosa (EB) nevi, have rarely been described as sequelae of TEN, with only a few pediatric cases reported. Labial metaplasia represents an exceptionally rare long-term complication.
We report the case of a 3-year-old female who developed two rare long-term pediatric sequelae of TEN: a Köbner-type eruptive melanocytic nevus and labial metaplasia. Awareness of these entities is critical to prevent unnecessary excisions and to ensure appropriate long-term surveillance.

9-year-old girl with unusual bleeding.

2026-05-02T21:48:42+00:00

Hematohidrosis, also known as hematidrosis and hemidrosis, is a rare condition in which a human being sweats blood.
Exact etiology is unknown, believed to be a systemic disease, e.g. it has been associated with vicarious menstruation, a condition in which bleeding occurs from a surface other than mucous membrane of uterine cavity at a time when normal menstruation should take place. Hematohidrosis has been reported with primary thrombocytopenic purpura and can also occur in settings of excessive exertion, psychogenic and other unknown factors.Etiopathogenesis according to Dr. Frederick Zugibe is that multiple blood vessels which are present in a net-like form around sweat gland, constrict under pressure of stress. As anxiety increases, blood vessels dilate to the point of rupture. Blood goes into sweat glands, which push it along with sweat to the surface, presenting as droplets of blood mixed with sweat. A 9/female,born out of non consagineous marriage, came with bleeding from intact skin from various parts of body since 15 days. Her first episode of bleeding was 6 months ago which had resolved spontaneously.Her last episode was15 days ago, after which the episodes happened daily.There was no history of prior trauma or physical/ mental stress, similar complaints in past/family. Cutaneous examination revealed no active lesions. Presence of blood was photographically documented by relative. Routine blood invesigation and psychiatric evualtion was normal. Benzidine test, confirmatory for hemathidrosis was positive. There was significant reduction in bleeding episodes after treatment with tab Propanolol 10 mg in divided doses.
Unique and rare case of haematohidrosis, probably youngest from India, (literature mentions case reports in 11 and13 year old ) is highlighted.

Cutaneous salivary gland choristoma in unusual sites.

2026-06-02T14:10:29+00:00

Presence of normal cell lineage at abnormal location is known as choristoma. Salivary gland choristoma are relatively rare and predominantly occures in head and neck region wherein brachial areches fuses during development. The extrafacial choristoma are extremly rare.
We have 5 month old infant who has multiple descrete erythmatous papulonodules over back, arm and forearm. Mother of child gave the history of oozing of sticky fluid through these lesion during feeding. This was suggestive of salivary galnd origin of tissue. The histopathology has typical acinar cell arrangement and IHC studies revealed diffuce uptake of SMA antigen.

Sublingual immunotherapy for severe pediatric atopic dermatitis.

2026-02-14T19:11:57+00:00

Atopic dermatitis (AD) is a chronic inflammatory skin disease with a complex pathogenesis. Current therapy involves a stepped approach, starting with barrier repair strategies and escalating to topical and systemic antiinflammatory therapy. Owing to the limitations of conventional interventions, several new targeted treatments have emerged for the treatment of severe AD. Allergen immunotherapy (AIT) using house dust mite (HDM) extracts is an established treatment for allergic rhinitis and asthma; however, its role in sensitized AD remains unclear. We report a 6-year-old Omani boy with severe AD refractory to conventional therapy who achieved marked clinical improvement with sublingual HDM immunotherapy (SLIT). Within two months of treatment, his Scoring Atopic Dermatitis (SCORAD) index decreased from 72.65 (severe) to 22.2 (mild). Concurrently, the Children’s Dermatology Life Quality Index (CDLQI) improved from 20 (extremely large effect on quality of life) at baseline to 7. At two-year follow-up, sustained disease control was observed with a SCORAD score of 26 and a CDLQI score of 3, indicating minimal impact on quality of life. This case highlights the potential of SLIT as an adjunctive therapy for severe AD in pediatric patients, consistent with recent reports suggesting its disease-modifying effects.

European Journal of Pediatric Dermatology, issue 3, vol. 36, 2026

2026-07-12T08:06:27+00:00

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Contents, issue 3, vol. 36, 2026

2026-07-12T08:08:15+00:00

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