Russian Journal of Skin and Venereal Diseases

Tuberous sclerosis is an orphan neurocutaneous hereditary disorder characterized by multisystem involvement and age-dependent manifestation of symptoms. The disease results from sporadic or inherited mutations in TSC1 (9q34, hamartin) or TSC2 (16p13.3, tuberin). Under normal conditions, TSC1 and TSC2 regulate cell proliferation and tumor growth by inhibiting the mTORC1 complex (mechanistic target of rapamycin complex 1). Mutations in TSC1 and TSC2 disrupt formation of the hamartin–tuberin complex, leading to persistent activation of mTORC1 and uncontrolled cellular proliferation.

A detailed description of cutaneous manifestations of tuberous sclerosis is crucial for early diagnosis. Angiofibromas and periungual fibromas are major diagnostic criteria for tuberous sclerosis. Although not life-threatening, these tumors significantly impair patients’ quality of life due to their size, bleeding upon trauma, and risk of secondary infection. Removal of angiofibromas and periungual fibromas substantially improves patients’ quality of life. Various removal techniques have been described in the scientific data, with laser modalities offering practical advantages over surgical excision.

We followed two adult patients with large facial angiofibromas and periungual fibromas. Angiofibromas and periungual fibromas were removed using a CO₂ laser under local infiltration anesthesia, followed by wound resurfacing with the same device in pulsed mode. Laser output ranged from 2 to 4 W. Immediately after excision, facial angiofibromas were additionally treated intralesionally with a pulsed dye laser. Excised tissue was submitted for histopathologic examination. Outcomes were assessed at 1 month, and patients were subsequently monitored every 3 months for 2 years by a dermatovenereologist. No tumor recurrences were observed during follow-up, underscoring the practical value of this approach for effective fibroma removal and improved quality of life.

BACKGROUND: Research into the pathogenesis of non-cicatricial alopecia involves investigating the mechanisms behind disruptions in the biological rhythm of hair growth and assessing the anagen-to-telogen hair ratio, without considering changes in pilosebaceous follicle morphology and its structural components. The functional role of the pilosebaceous follicle’s structural components (the hair follicle, outer root sheath, and inner root sheath) is not fully understood. There is no reliable evidence of correlations between changes in the hair follicle, the external and internal root sheaths, and the development of a specific type of alopecia.

AIM: This study aimed to investigate changes in structural components of the pilosebaceous follicle associated with non-cicatricial alopecia.

METHODS: Histological and morphometric examinations were conducted for scalp biopsy samples obtained from 191 patients with non-cicatricial alopecia and 20 control patients.

RESULTS: An assessment of pilosebaceous follicle thickness in the subcutaneous fat tissue of the scalp in patients with various types of non-cicatricial alopecia revealed that hair follicles were thinner than those in the control group. The most significant changes were observed in patients with alopecia areata. A decreased thickness of the external root sheath was found in all hair loss groups, with the lowest values observed in alopecia areata and telogen effluvium. The internal root sheath was thinner in cases of diffuse telogen effluvium and alopecia areata but not in androgenetic alopecia.

CONCLUSION: In patients without hair loss, the most significant changes in the thickness of the hair follicle and the outer and inner root sheaths occurred at the transition from the reticular dermis to the sebaceous gland. In patients with alopecia, however, thinning of these structural components began in the subcutaneous fat tissue.

BACKGROUND: Inflammatory processes in acne are frequently accompanied by enhanced oxidative stress and reduced antioxidant activity, particularly of the enzyme superoxide dismutase.

AIM: This study aimed to analyze the influence of SOD2 gene polymorphic loci T58C (rs1141718), Ala16Val (rs4880), and C60T (rs11575993) in Uzbek patients with acne of varying severity.

METHODS: A case–control study was conducted using genomic DNA extracted from peripheral blood samples. The study lasted from February to December 2023. A total of 133 patients with acne were examined; the control group included 125 conditionally healthy Uzbek individuals without dermatologic or other diseases.

RESULTS: According to the Global Alliance to Improve Outcomes in Acne severity classification, patients were divided into three groups: mild acne (51; 38.3%), moderate acne (63; 47.4%), and severe acne (19; 14.3%). The unfavorable C allele and the T/C heterozygous genotype of rs1141718 were associated with a markedly increased risk of inflammation driven by oxidative stress; the risk was 8–13 times higher in patients with mild and severe acne (p < 0.05). Moreover, a clear trend toward a higher prevalence of the unfavorable Val allele was observed in the acne group, and the Val allele as well as the homozygous Val/Val genotype were found to be associated with greater clinical disease severity.

CONCLUSION: Polymorphic variants of genes related to oxidative stress biomarkers—particularly SOD2 (T58C, rs1141718; and Ala16Val, rs4880)—play an important role in the pathogenesis of oxidative stress in acne.

The rising prevalence of psoriasis and the gradual elucidation of new etiopathogenetic mechanisms have intensified interest in studying this dermatosis across various clinical contexts, including in the presence of comorbidities. Accumulating evidence indicates that shared pathogenic pathways between psoriasis and several systemic diseases contribute to increased disease burden, reduced therapeutic responsiveness, shorter remission periods, and a heightened risk of severe forms of psoriasis—namely, psoriatic arthritis and erythroderma. Particular attention in this review is devoted to psoriasis in combination with metabolic syndrome, a condition characterized by overweight/obesity, hypertension, and disturbances in carbohydrate and lipid metabolism.

This review summarizes current research examining the association between psoriasis and comorbidities—including metabolic syndrome, cardiovascular diseases, and others. Comorbidities in psoriasis underscore the close interconnection among body systems, highlighting the importance of targeted evaluation of patients to assess the risk of cardiovascular disease, endocrine disorders, and other conditions. Such an approach may improve both life expectancy and quality of life in this population.

Subcorneal pustular dermatosis, also known as Sneddon–Wilkinson disease, is a rare recurrent condition, and its nosology remains a subject of debate. It is often placed within the spectrum of bullous dermatoses and interpreted as a subtype of pemphigus; however, some contemporary studies consider it a neutrophilic dermatosis, and even a potential variant of pustular psoriasis.

Clinically, Sneddon–Wilkinson disease presents with eruptions on normal or erythematous skin in the form of flaccid, superficial, small (2–4 mm) sterile pustules, which are often grouped, forming annular or garland-like patterns. The process is typically symmetrical.

The etiopathogenesis remains incompletely understood, though current evidence indicates that the key pathogenic mechanism is the accumulation of neutrophils beneath the stratum corneum, possibly due to an abnormal neutrophilic response to aberrant chemotactic factors located within the upper epidermal layers.

Diagnosis of Sneddon–Wilkinson disease is challenging, because its clinical presentation closely resembles several other conditions. Another difficulty is in the need to distinguish subcorneal pustular dermatosis from pustular psoriasis. Diagnosis is based on clinical presentation and histopathological examination, where subcorneal neutrophilic accumulation is key.

The issue of treatment for this type of dermatosis remains relevant, with dapsone being the first-line option. In cases of poor response or contraindications, alternative modalities may be used, including systemic glucocorticoids, retinoids, PUVA therapy, and tumor necrosis factor-α (TNF-α) inhibitors.

This article presents a rare clinical case of Sneddon–Wilkinson disease in a 20-year-old pregnant patient in her second trimester, with a year-long disease history, diagnostic difficulties, and challenges in therapeutic management.

Connective tissue forms the basis of skin, bone, cartilage, blood, and vascular walls. Connective tissue diseases are a diverse group of autoimmune disorders that often manifest as skin lesions. Diseases are classified as localized (affecting a single type of tissue) or systemic (affecting multiple organs and target tissues). Their development may be caused by genetic predisposition, external factors (such as infectious agents, ultraviolet radiation, smoking, certain medications, stress, etc.), and changes in hormonal balance. The most common diseases associated with rashes include various variants of lupus erythematosus and dermatomyositis. Additionally, there are several features associated with the clinical presentation and location of a lesion. For example, discoid lupus erythematosus is characterized by erythematous lesions with scaling, atrophy, and scarring. These lesions are primarily found on exposed areas of the skin and scalp. Dermatomyositis is characterized by skin involvement of the trunk and limbs, periorbital lilac-coloured edema (heliotrope eruption), and Gottron papules on the hands. In systemic lupus erythematosus, skin manifestations, such as spots and papules, are often accompanied by internal organ involvement.

A comprehensive approach is required for the diagnosis of connective tissue diseases, incorporating laboratory and imaging tests. In addition to pharmacological therapy, treatment includes physical therapy, exercise, and massage to suppress disease activity and prevent complications. If conservative treatment is ineffective, surgery is required.

This photo gallery shows different types of skin lesions that are associated with connective tissue diseases.