Background. One of the most severe forms of epidermolysis bullosa (EB) is its dystrophic form (DEB). This disease is caused by mutations in the COL7A1 gene, leading to skin fragility and blistering, it is characterized typically by severe course of skin lesions and systemic manifestations. One of the challenging systemic complications in patients with DEB is dilated cardiomyopathy (DCM) aggravating DEB clinical course and significantly affecting morbidity and mortality. However, there is no data on any correlation between DEB severity and anthropometric, osteodensimetry, and laboratory results, as well as with echocardiography (EchoCG) parameters among children with EB in Russian Federation. Objective. The aim of the study is to analyze the clinical and laboratory profile of patients with DEB and DCM, as well as to identify possible markers associated with high disease severity and risk of mortality in children with DEB in Russian Federation. Methods. The severity of EB course via Birmingham Epidermolysis Bullosa Severity score (BEBS) (from 15.0 to 64.0); anthropometric measures (WAZ, HAZ, BAZ) and bone mineral density status (BMD, Z-score); laboratory parameters (hemoglobin, ferritin, albumin, iron, vitamin D, etc.); EchoCG parameters (ejection fraction (EF), cardiac chambers dimensions, regurgitation); presence of comorbidities and lethal outcomes were evaluated. Results. 491 children with EB were registered in Russian Federation according to the data from the “Register of genetic and other rare diseases” of charitable foundation “BELA. Butterfly Children” as at 2025. There is data on 7 patients (4 girls and 3 boys) with severe DEB and comorbid DCM. Patients’ age was from 4 to 17 years (mean age 13.4 ± 5.1 years). Higher BEBS values (> 50) were associated with severe weight deficit (BAZ < –5), low bone mineral density (Z-score up to –5.3), severe anemia (Hb < 90 g/L), and severe myocardial changes (reduced EF, dilated chambers, multiple regurgitations). 3 girls out of these 7 patients died. They had maximum BEBS score ( 46), severe malnutrition, and the most significant changes according to EchoCG. Conclusion. DEB severity (according to BEBS) has negative correlation with anthropometric and osteodensimetry parameters (WAZ, BAZ, Z-score) and is directly related to the risk of severe cardiomyopathy and death. All patients suffering from EB with suspected DCM require complex management, including nutritional support, anemia correction, vitamin D replacement, and regular cardiac monitoring.

Background. Dystrophic epidermolysis bullosa (DEB) is one of the most common and severe forms of epidermolysis bullosa (EB). Progressive fibrous tissue remodeling in DEB is characterized by development of limbs contractions and pseudosyndactylies. Complications of DEB have significant negative impact on patients development, adulting, and quality of life. DEB prevalence, its severity, and its correlation with limb deformities has not been examined in Russian studies. Objective. The aim of the study is to examine fibrous hands deformities prevalence and structure in children with DEB in Russian Federation. Methods. The study included data from children with genetically verified DEB (pathogenic variant in the COL7A1 gene) under the age of 18 years with Russian citizenship. Data source is the «Register of genetic and other rare diseases» of Charitable foundation “BELA. Butterfly Children”. Data was collected during the period from September 2014 to June 2025. Fibrous hands deformities were diagnosed in patients with hand pseudosyndactylies and contractions. The severity of single-hand deformities was determined via J. Glicenstein et al. scale (Grade 1–4). Results. Hands deformities of various severity were revealed in 39 (14.9%) out of 261 patients with DEB; 19 (49%) of them were female. The mean age of patients with hands deformities was 12.2 ± 3.6 years (range from 6 to 18 years). Grade 1 deformity (initial deformities) was revealed in 6 (15%) patients, Grade 2 (moderate deformities) — in 23 (59%) patients, Grade 3a (progressive form) — in 9 (23%) patients, Grade 4b (significant changes) — in 1 (3%) patient. The mean age of fibrous hands deformities onset was 4.1 ± 2.9 years. Moreover, its onset occured on average 1.5–2 years earlier in patients with more severe forms (Grade 3a, 4b) than in patients with Grade 1–2. Conclusion. Moderate fibrous limbs deformities (hands) are the most common in the structure of DEB cases. Deformities severity is directly determined by the age of fibrous changes onset.

Background. Atopic dermatitis (AD) chronic inflammatory skin disease developing associated with genetically determined skin barrier disorders and immune system impairment. In recent years, there is an increase in the proportion of patients with autoimmune diseases (AIDs) among AD cases. Objective. The aim of the study is to examine AIDs incidence among children hospitalized with AD. Methods. The study included patients with moderate or severe AD hospitalized in specialized hospital department from November 2015 to April 2025. AIDs and allergic diseases presence was determined according to medical records. Results. The study included 10,239 patients with AD. Comorbidities (1) were diagnosed in 8103 (79.1%) children, allergic diseases — in 6475 (63.2%). At least one AID was diagnosed in 1,628 children (15.9%; 95% CI 15.3–16.7%). The most common were alopecia areata, celiac disease, and vitiligo. Conclusion. Examination of patients with moderate or severe AD should include evaluation of AIDs symptoms and immunological markers. Common pathogenetic mechanisms allow us to develop united strategy for AD and AIDs early diagnosis and for further follow-up of patients at high-risk group.

Background. Sweet syndrome is a rare inflammatory disease from the group of neutrophilic dermatoses, characterized by proinflammatory cytokines hyperproduction. Case description. A child, 1 year 3 months old, with referral diagnosis of “Pyoderma gangrenosum” was diagnosed: «Acute febrile neutrophilic dermatosis. Sweet syndrome». Molecular genetic testing was carried out to clarify the diagnosis: whole-exome sequencing of venous blood from the patient and his mother. As a result both of them had nucleotide variant c.3061C>T in exon 26 of the UBA1 gene. Step-up therapy with methylprednisolone, dapsone, tofacitinib, anakinra, and ruxolitinib was administered due to pathological skin process severity, high interleukins 1 and 6 levels, and according to the experience in management of such patients described in medical literature. Sustained remission of the skin pathological process was noted on treatment. Conclusion. Case study of acute febrile neutrophilic dermatosis (Sweet syndrome) is presented. Results of successful drug therapy are shown.

Background. Challenge in management of severe acne (conglobata, nodular) in patients with comorbid hepatopathy is associated to the high risk of systemic retinoids hepatotoxicity. Topical retinoid, trifarotene, as a selective RAR- (retinoic acid receptor) agonist, may be used as an alternative in these cases. Case description. Patient, 17 years old, with acne conglobata, facial and body skin lesions and comorbid autoimmune hepatitis type 1 (ANF-positive). Systemic isotretinoin administration along with immunosuppressive therapy (prednisolone, azathioprine) was considered unreasonable due to high risk of hepatotoxicity. Trifarotene cream (50 mcg/g) was prescribed once per day for 3 months with following switch to alternate days regimen. Complete regression of face, body and limbs rashes with no new eruptions was achieved after 3 months of external therapy. Moderate side effects (erythema, skin dryness and peeling) were noted on treatment, however, they were successfully relieved via dermatological cosmetics. It was recommended to continue trifarotene administration according to the alternate days regimen to maintain remission and to perform subsequently scar revision (laser, dermabrasion). Conclusion. High efficacy and safety of topical trifarotene has been noted in the patient with severe acne and comorbid autoimmune hepatitis, maintaining its remission (normal alanine aminotransferase, aspartate aminotransferase, bilirubin levels), and moderate side effects. This medication can be considered as an alternative to the systemic retinoid isotretinoin in patients with hepatopathy.

Background. The combination of systemic scleroderma and systemic lupus erythematosus is described sufficiently detailed in the literature. However, overlap of localized forms of scleroderma and discoid lupus erythematosus in children is described only in single clinical observations. Case description. Rare case study of overlap syndrome is presented, the results of drug treatment are demonstrated, differential diagnosis issues and disease pathogenetic features are highlighted. Conclusion. Diagnosis of overlap syndromes presents significant difficulties. Its untimely verification leads to ineffective management. As a result, persistent functional and cosmetic skin defects develop, leading to negative impact on patients' quality of life.

Background. Linear porokeratosis is a rare type of poroceratosis, genetically determined disorder of mevalonate pathway in keratinocytes. It is characterized by high risk of malignant neoplasms (squamous cell carcinoma, basal cell carcinoma, Bowen's disease, melanoma). There is no pathogenetic treatment. Case description. Patient K., 8 years old, had rashes from the first days of life. The rashes have spread all over the body with age. Positive effect in partial regression of rashes was noted after 3 months on acitretin administration at dosage of 10 mg/day. Conclusion. The positive effect of linear porokeratosis management via acitretin has been shown. However, the definition of standard treatment regimens for porokeratosis remains relevant.

Background. Few cases of pityriasis rubra pilaris (PRP) associated with CARD14 gene variants have been reported among pediatric patients in the literature. The inefficacy of standard treatment methods necessitates management with genetically engineered biologic drugs for off-label indications. Case description. 5-year-old child with PRP and pathogenic variant in the CARD14 gene was administered with ustekinumab, genetically engineered biologic drug, for off-label indication due to inefficacy of previous therapy with topical glucocorticoids (methotrexate and acitretin). High efficacy of this therapy was noted. No side effects have been reported. Conclusion. Genetically engineered biologic therapy with ustekinumab can be suggested in the recommended regimen in patients with PRP and pathogenic variant in the CARD14 gene in case of inefficacy of topical glucocorticoids, methotrexate, oral retinoids, and tumor necrosis factor alpha inhibitors.

Background. Generalized pustular psoriasis management in children is a topical issue due to limited use and efficacy of traditional immunodepressants, absence of registered genetically engineered biologic drugs. The description of biological drugs treatment results in children with pustular psoriasis within off-label indications is still relevant. Case description. 4-year-old child with generalized pustular psoriasis had limited methotrexate efficacy (cutaneous lesions exacerbations at a dose of 7.5 mg subcutaneously once per week), thus, genetically engineered biologic drug adalimumab was prescribed at a dose of 20 mg subcutaneously according to the recommended regimen. Positive dynamics was noted at follow-up scheduled examinations: complete regression of pustular rashes, laboratory blood values normalization, achievement of the PASI 100 at week 17. No side effects of adalimumab therapy were noted. Conclusion. Treatment with adalimumab (according to the recommended regimen) may be suggested in patients with generalized pustular psoriasis due to pathological process course severity, inefficacy of standard external therapy, antihistamine therapy, physiotherapy, traditional immunodepressants, including insufficient response to methotrexate, and in cases with no contraindications.

Background. Diagnosis of Norwegian (crusted) scabies is complicated by clinical signs of chronic and acute skin diseases. Incorrect diagnosis and consequently irrational management lead to local immune system disorders and excessive reproduction of itch mites. Case description. Children with Prader–Willi syndrome and Down syndrome have shown signs of skin disease. The diagnosis of Norwegian scabies has been established according to dermatoscopy results and analysis of skin scraping from the lesion. External therapy included permethrin 5% lotion and showed positive dynamics of skin lesions over the next 7 days. Conclusion. Norwegian scabies is a difficult disease to diagnose. Particular attention should be given to patient's comorbidities and immune status. Dermatoscopy improves diagnostic accuracy. Topical permethrin therapy can be used as first-line therapy.

Background. Iron deficiency anemia is one of the most common complications of dystrophic epidermolysis bullosa (DEB). Anemia management in such cases is complicated due to many pathological factors and conditions aggravating disease course and iron absorption leading to development of anemia vicious pathological circle. Case description. Cases of anemia in children with DEB have been described. Diagnostic algorithms and therapeutic criteria have been presented. Iron (III) hydroxide sucrose was administrated, transfusion of leukoreduced red blood cell suspension was performed. Increase in hemoglobin concentration, hemodynamics stabilization, and wound healing were noted on therapy. No side effects were reported during treatment. Conclusion. Children with DEB and comorbid severe anemia require complex therapy including iron medications and transfusions. Moreover, it is crucial to update management protocols for such patients.

Background. T2-associated diseases such as eosinophilic esophagitis (EoE), atopic dermatitis, and bronchial asthma have common pathogenetic mechanism — hyperproduction of interleukins (IL) 4, 5 and 13. Standard therapy for severe forms of EoE and comorbid T2 pathologies may be ineffective. Dupilumab (monoclonal antibody to the IL-4R receptor) selectively blocks IL-4/IL-13 signaling pathways. Thus, this medication can be considered as the promising treatment option for EoE with refractory course and multiple atopic conditions. Case description. Child with EoE complicated by esophageal stenosis, comorbid atopic dermatitis, and allergic rhinitis, with ineffective standard therapy (proton pump inhibitors, topical corticosteroids, and elimination diet), was prescribed dupilumab, 300 mg every 2 weeks (child’s weight of 34 kg, total dosage was 800 g). Dysphagia and abdominal pains resolved 3 months after biological therapy onset. The patient has started eating solid food, his appetite has improved. Normalization of physical development indicators (HAZ, BAZ) was noted. Remission of atopic dermatitis was achieved during the therapy, and endoscopic esophageal dilation was avoided. No side effects were reported due to dupilumab therapy. Conclusion. Dupilumab significantly reduces eosinophilic infiltration of esophageal mucosa and symptoms severity in the patient with severe EoE combined with T2-associated diseases. This medication opens new possibilities for personalized therapy of patients with EoE via modulating effect on genetically determined T2-inflammation.

Background. Phacomatosis pigmentokeratotica (PPK) is an orphan genodermatosis from the epidermal nevus syndrome group. This disease is caused by somatic mosaicism predominantly in the HRAS gene. Pathognomonic PPK sign is combination of congenital linear nevus sebaceus of Jadassohn and speckled lentiginous nevus. Second one may debut much later. In some cases, there are signs of nervous system damages, skeletal disorders, visual impairments. Case description. Description of a patient with PPK and novel for this disease mosaic variant G469A in the BRAF gene is presented. Clinical picture included typical signs of the syndrome and immunological disorders unusual for patients with PPK. Possible genotype-phenotype correlations were analyzed based on 16 previously published observations of genetically verified PPK. Conclusion. The syndrome rarity, its course variability, and patients genetic testing features determine the difficulties in PPK diagnosis. The disease should be considered not only in terms of dermatological signs, but also regarding comorbid disorders. The dynamic follow-up should include consultations of pediatric oncologist, neurologist, ophthalmologist, endocrinologist, orthopedist, cardiologist, and immunologist.