Practical Dermatology 2/2026

Monogenic autoinflammatory diseases affecting the skin and the eye

Monogenic autoinflammatory diseases affecting the skin and vision

Franciszek Seneczko, Michał Seneczko

Abstract

Monogenic autoinflammatory diseases, which result from a mutation in a single gene, constitute a large group of rare, often hereditary disorders. These conditions affect the innate immune system and are characterized by an uncontrolled increase in the systemic inflammatory response caused by mutations in genes involved in inflammatory pathways. The molecular mechanisms of these diseases are linked to defects in inflammatory signaling pathways, in which inflammasomes, the nuclear transcription factor NF-κB, or interferon, cytokine receptors, the actin cytoskeleton, proteasome complexes, and various enzymes. These mechanisms are influenced by pathogenic single-gene variants, which can be inherited in a recessive or dominant manner. Numerous mutated proteins are expressed primarily in hematopoietic cells, whose abnormal functioning leads to inflammation. This paper discusses monogenic inflammatory diseases in which some of the symptoms include both cutaneous and ocular manifestations.

Abstract

Monogenic autoinflammatory diseases, which are caused by mutations in a single gene, constitute a large group of rare, often hereditary diseases. These diseases involve the innate immune system and are characterized by an uncontrolled increase in the systemic inflammatory response caused by mutations in genes involved in inflammatory pathways. The molecular mechanisms of the diseases discussed are linked to defects in inflammatory signaling pathways in which inflammasomes, the nuclear transcription factor NF-κB, interferon, cytokine receptors, the actin cytoskeleton, proteasome complexes, and various enzymes play crucial mediating roles. The aforementioned mechanisms are influenced by pathogenic variants of a single gene, which can be inherited in a recessive or dominant manner. Numerous mutant proteins are expressed primarily in hematopoietic cells, and their dysfunction leads to inflammation. This paper discusses monogenic inflammatory diseases in which some of the symptoms include both skin and ocular manifestations.

Keywords: autoinflammatory diseases , genetics, innate immunity, mutations, monogenic autoinflammatory diseases

Key words: autoinflammatory diseases, genetics, innate immunity, mutations, monogenic autoinflammatory diseases

Androgenetic Alopecia in Women: Current and Emerging Treatment Options

Androgenic alopecia in women: current and new treatment options

Katarzyna Płużańska-Srebrzyńska

Abstract

Hair loss in women significantly affects quality of life, psychosocial functioning, and self-esteem [1]. Among the various types of hair loss, androgenetic alopecia—often referred to asfemale pattern hair loss (FPHL)—is the most common form of chronic, non-scarring hair loss in women [2]. Epidemiological studies suggest that approximately 20–30% of women experience some degree of androgenetic alopecia by the age of 50, and the prevalence of this condition increases with age [3]. FPHL is characterized by progressive miniaturization of hair follicles, a shortened anagen phase, and an increased proportion of hairs entering the telogen phase [2, 4]. The clinical presentation typically involves diffuse hair thinning on the top of the head and in the parietal region, with the frontal hairline remaining intact [4]. The course of the disease is usually long-term and chronic.

Despite the high prevalence of FPHL, treatment options are limited [5]. Topical minoxidil remains the only approved treatment for androgenetic alopecia in women in many countries [6]. However, in recent years, increasing attention has been paid to systemic therapies and regenerative medicine approaches [7].

Pharmacological treatment includes topical and oral minoxidil, antiandrogen therapy, and 5-α-reductase inhibitors [5, 8]. Treatments such as platelet-rich plasma injections and microneedling have gained popularity as adjunct therapies [9]. New research is also focusing on the role of therapies based on stem cells, exosomes, and molecular pathways involved in hair follicle regeneration [10].

Abstract

Hair loss in women is a common dermatological complaint that significantly affects quality of life, psychosocial functioning, and self-perception [1]. Among the various types of alopecia, androgenetic alopecia—often referred to as female pattern hair loss (FPHL)—is the most common form of chronic, non-scarring hair loss in women [2]. Epidemiological studies suggest that approximately 20–30% of women experience some degree of androgenetic alopecia by the age of 50, with prevalence increasing with age [3].

FPHL is characterized by progressive hair follicle miniaturization, shortening of the anagen phase, and an increased proportion of hairs entering the telogen phase [2, 4]. The clinical presentation typically involves diffuse thinning over the vertex and parietal scalp, with preservation of the frontal hairline [4]. The disease course is usually slow-progressing and chronic.

Despite the high prevalence of FPHL, treatment options remain limited [5]. Topical minoxidil remains the only treatment approved by regulatory agencies for female androgenetic alopecia in many countries [6]. However, in recent years, increasing attention has been given to systemic therapies and regenerative medicine approaches [7].

Pharmacological treatments include topical and oral minoxidil, antiandrogen therapy, and 5-α-reductase inhibitors [5, 8]. Procedural treatments such as platelet-rich plasma injections and microneedling have gained popularity as adjunctive therapies [9]. Emerging research has also focused on the role of stem cell-based therapies, exosomes, and molecular pathways involved in hair follicle regeneration [10].

Keywords: female hair loss , androgenetic alopecia, female-pattern hair loss

Key words: hair loss in women, androgenic alopecia, female-pattern hair loss

Nail Toxicity Associated with Anticancer Therapies—Clinical Presentation, Prevention, and Treatment

Nail changes in patients receiving anticancer drugs – clinical presentation, prevention, and management

Paulina Szczepanik-Kułak

Abstract

Nail changes are among the common, though still underrecognized, adverse effects of anticancer therapies. They can occur during conventional chemotherapy, targeted therapy, and immunotherapy. Clinical manifestations include discoloration of the nail plate, subungual hemorrhage, onycholysis, onychomadesis, paronychia, vascular granulomas, and lesions resembling psoriasis and lichen planus. Although many of these are cosmetic in nature, some lead to significant pain, impaired manual dexterity, and a reduced quality of life, and may even necessitate modification of cancer treatment. This article presents the current knowledge regarding the pathogenesis, clinical presentation, prevention, and treatment of nail toxicity associated with anticancer therapies.

Abstract

Nail changes are common, yet still underdiagnosed, adverse effects of anticancer therapies. They can occur during conventional chemotherapy, targeted therapy, and immunotherapy. Clinical manifestations include discoloration of the nail plate, subungual hemorrhage, onycholysis, onychomadesis, paronychia, granulomas, and lesions resembling psoriasis and lichen planus. Although many of these are cosmetic in nature, some lead to significant pain, impaired manual dexterity, and a reduced quality of life, and may even necessitate modification of cancer treatment. This article presents the current knowledge regarding the pathogenesis, clinical presentation,

prevention and treatment of nail toxicity associated with anticancer therapies.

Keywords: nails , nail toxicity, chemotherapy, targeted therapy, immunotherapy, onycholysis, paronychia

Key words: nails , nail toxicity, chemotherapy, targeted therapy, immunotherapy, onycholysis, paronychia

Extrasutorial Paget’s disease

Extramammary Paget’s disease

Agata Szczecina, Izabela Wysocka, Kaja Iwaniuk, Adam Borzęcki

Abstract

Extramammary Paget disease (EMPD) is a rare intradermal malignant tumor, most commonly located in areas rich in apocrine glands. The clinical presentation often resembles chronic inflammatory dermatoses, which can delay diagnosis. The diagnosis is based on histopathological examination with immunohistochemical evaluation. Due to the possibility of concomitant internal organ cancers, comprehensive oncological evaluation is necessary. Surgical excision of the lesion remains the treatment of choice, although non-surgical methods—such as radiation therapy, imiquimod, or photodynamic therapy—are also used. This article discusses EMPD and the case of a female patient diagnosed with primary extramammary Paget’s disease, in whom photodynamic therapy was used to treat a recurrence following surgical treatment, with good results.

Abstract

Extramammary Paget disease (EMPD) is a rare intraepidermal malignant neoplasm that typically occurs in areas containing apocrine glands. Its clinical presentation often mimics chronic inflammatory skin conditions, leading to a delayed diagnosis. Histopathological and immunohistochemical examinations are essential for diagnosis. Since EMPD may be associated with internal malignancies, a comprehensive oncological evaluation is recommended. Surgical excision remains the treatment of choice, although non-surgical options such as radiation therapy, topical imiquimod, and photodynamic therapy may also be used. This article provides an overview of EMPD and presents the case of a female patient diagnosed with primary extramammary Paget disease, in whom photodynamic therapy was used to treat a recurrence following surgery, with good results.

Keywords: extramammary Paget’s disease, Paget cells, intraductal adenocarcinoma, apocrine gland

Key words: extramammary Paget’s disease, Paget’s disease, Paget cells, intraepithelial adenocarcinoma, apocrine gland

Dermatitis artefacta: Chronic skin ulceration in an adolescent female patient—a case report

Dermatitis artefacta: Chronic Skin Ulceration in an Adolescent Patient – A Case Report

Aleksandra Maciejewska-Gaskoń, Dagmara Marańska

Abstract

Dermatitis artefacta belongs to a group of psychodermatological disorders characterized by the presence of skin lesions induced by the patient themselves, most often accompanied by a persistent denial of their origin. Diagnosis poses a significant challenge due to the varied clinical presentation and the need to rule out numerous conditions, including infections, autoimmune diseases, vasculitis, and other causes of chronic ulcers. We present the case of a 16-year-old female patient hospitalized due to a chronic, non-healing ulcer on her right thigh. Extensive laboratory, bacteriological, virological, and imaging studies failed to identify a definitive cause for the lesion. Histopathological examination revealed features of acute epidermal damage with a band of necrosis, the presence of granulation tissue, erythrocyte extravasation without signs of vasculitis, and a pattern consistent with induced lesions. Based on the overall clinical and histopathological picture, a diagnosis of dermatitis artefacta was made. This case underscores the importance of considering artifactual dermatoses in the differential diagnosis of chronic, atypical skin ulcers in children and adolescents.

Abstract

Dermatitis artefacta belongs to the group of psychodermatological disorders characterized by the presence of skin lesions self-inflicted by the patient, most often accompanied by denial of their origin. Diagnosis poses a significant challenge due to the variable clinical presentation and the need to rule out numerous conditions, including infections, autoimmune diseases, vasculitis, and other causes of chronic ulceration. We present the case of a 16-year-old female patient hospitalized for chronic, non-healing ulceration of the right thigh. Extensive laboratory, bacteriological, virological, and imaging investigations did not reveal a clear cause of the lesion. Histopathological examination showed features of acute epidermal injury with a necrotic band, the presence of granulation tissue, extravasation of erythrocytes without signs of vasculitis, and findings consistent with induced lesions. Based on the overall clinical and histopathological picture, dermatitis artefacta was diagnosed. This case highlights the importance of considering factitious dermatoses in the differential diagnosis of chronic, atypical skin ulcerations in children and adolescents.

Keywords: dermatitis artefacta, artifactual dermatosis, chronic ulceration, psychodermatology

Key words: artifactual dermatitis , factitious dermatosis, chronic ulceration, psychodermatology

Recurrent Folliculitis Caused by Pseudomonas aeruginosa in an Immunocompetent Girl—A Case Report

Recurrent Pseudomonas aeruginosa folliculitis in an immunocompetent girl—a case report

Rafał Studniarz, Dagmara Marańska

Abstract

Folliculitis caused by Pseudomonas aeruginosa is a relatively rare form of bacterial skin infection. It most often develops after exposure to improperly chlorinated water in swimming pools or hot tubs and is usually self-limiting. Recurrent infections in children without immunodeficiency are reported sporadically. We present the case of a 9-year-old girl hospitalized due to four recurrent episodes of papulopustular lesions located on the buttocks, the posterior surfaces of the thighs, and the sacral region. Microbiological examination of a pustular lesion revealed Pseudomonas aeruginosa. Histopathological examination showed findings consistent with bacterial folliculitis. Laboratory tests, including a complete blood count, biochemical parameters, immunoglobulin levels, and testing for human immunodeficiency virus (HIV ) infection, showed no abnormalities. The medical history revealed no typical risk factors for infection, such as the use of swimming pools or hot tubs. Topical treatment with a gentamicin-containing preparation led to the resolution of active skin lesions, leaving post-inflammatory hyperpigmentation. The case described highlights the importance of microbiological diagnosis and the need to consider P. aeruginosa in the differential diagnosis of recurrent folliculitis in children.

Abstract

Pseudomonas aeruginosa folliculitis is an uncommon bacterial skin infection, most frequently

associated with exposure to inadequately chlorinated water in swimming pools or hot tubs. The disease is usually self-limiting, whereas recurrent infections in immunocompetent children

are rarely reported. We present the case of a 9-year-old girl who was hospitalized due to four episodes of recurrent papulopustular lesions involving the buttocks, posterior thighs, and sacral region. A microbiological culture from a pustular lesion revealed *Pseudomonas aeruginosa*. Histopathological examination demonstrated suppurative folliculitis consistent with a bacterial infection. Laboratory tests, including a complete blood count, biochemical parameters, immunoglobulin levels, and human immunodeficiency virus (HIV) testing, were within normal limits. No typical environmental risk factors, such as exposure to swimming pools or hot tubs, were identified. Topical treatment with gentamicin resulted in the resolution of active lesions, leaving post-inflammatory hyperpigmentation. This case highlights the importance of microbiological diagnostics and the need to consider P. aeruginosa in the differential diagnosis of recurrent folliculitis in children.

Keywords: Pseudomonas aeruginosa, folliculitis, children, skin infections, recurrent folliculitis

Key words: Pseudomonas aeruginosa, folliculitis, children, skin infections, recurrent folliculitis

Psoriasis or an Adverse Reaction to Immunotherapy? Extensive Psoriasis-Like Rash Induced by Nivolumab—A Case Report

Psoriasis or Immune Checkpoint Inhibitor-Related Toxicity? A Case Report of an Extensive Nivolumab-Induced Psoriasiform Eruption

Aldona Olejnik

Abstract

Introduction. Immune checkpoint inhibitors (ICIs ) are an important component of treatment for many cancers; however, their use is associated with a risk of immune-mediated adverse events. Cutaneous adverse reactions are among the most common complications of this therapy, and psoriasis-like lesions can pose a significant diagnostic and therapeutic challenge.

Case Report. We present the case of a 67-year-old man treated with nivolumab for metastatic clear cell renal cell carcinoma, who developed extensive erythematous and desquamative lesions with a psoriasis-like appearance nearly one year after starting immunotherapy. Psoriasis was initially suspected, but outpatient treatment resulted in only temporary improvement. A dermatological examination revealed widespread erythematous, infiltrative, and hyperkeratotic lesions involving the trunk, extremities, hands, feet, and nail plates. Dermatoscopic examination revealed punctate vessels, subepidermal edema, and focal desquamation. Analysis of the clinical presentation, medical history, and temporal relationship to treatment with a programmedcell death protein 1 (PD-1) receptor inhibitor led to the diagnosis of a psoriasis-like drug rash induced by nivolumab. Treatment with systemic and topical glucocorticosteroids, antifungal therapy, and supportive care was initiated; marked clinical improvement was achieved. Upon discharge, no dermatological contraindications to resuming immunotherapy were identified.

Conclusions. Psoriasis-like adverse reactions are among the characteristic cutaneous manifestations of PD-1 inhibitor therapy and may mimic classic psoriasis. Proper differential diagnosis—taking into account the patient’s oncological history, the temporal association with immunotherapy, and dermatoscopic examination—enables the rapid initiation of appropriate treatment and, in many cases, allows for the safe continuation of anticancer therapy. The case described here underscores the importance of close collaboration between dermatologists and oncologists in the management of patients receiving immune checkpoint inhibitors.

Abstract

Introduction. Immune checkpoint inhibitors (ICIs) have become a cornerstone in the treatment of numerous cancers. However, their use is associated with immune-related adverse events (irAEs), resulting from excessive activation of the immune system. Cutaneous toxicities are among the most frequently observed irAEs, with psoriasiform eruptions posing a significant diagnostic and therapeutic challenge due to their clinical resemblance to psoriasis vulgaris.

Case presentation. We report the case of a 67-year-old man receiving nivolumab for metastatic clear cell renal cell carcinoma who developed extensive psoriasiform skin lesions approximately one year after the start of immunotherapy. The lesions had initially been diagnosed as psoriasis and showed only transient improvement following conventional outpatient treatment. Dermatological examination revealed widespread erythematous, infiltrated, and hyperkeratotic plaques involving the trunk, extremities, palms, soles, and nail beds. Dermoscopic examination revealed dotted vessels, stromal edema, and focal

scaling. Based on the clinical presentation, oncological history, and the close temporal association between symptom onset and anti-PD-1 therapy, a diagnosis of nivolumab-induced psoriasiform drug eruption was established. Systemic and topical corticosteroids, antifungal therapy, and supportive dermatological treatment resulted in marked clinical improvement. At discharge, no dermatological contraindications to resuming nivolumab therapy were identified.

Conclusions. Psoriasiform eruptions are a well-recognized cutaneous immune-related adverse event associated with PD-1 inhibitors and may closely mimic psoriasis vulgaris. An accurate differential diagnosis—taking into account the patient’s oncological history, the temporal relationship with immunotherapy, and dermoscopic findings—is essential for prompt diagnosis and appropriate management. Early recognition and treatment of these adverse events may allow for the continuation of life-prolonging anticancer immunotherapy while maintaining adequate control of cutaneous toxicity. This case highlights the importance of close multidisciplinary collaboration between dermatologists and oncologists in the management of patients receiving immune checkpoint inhibitors.

Keywords: nivolumab , immune checkpoint inhibitors, immunotherapy, psoriasiform rash, treatment-related adverse effects, dermatoscopy, clear cell renal cell carcinoma

Key words: nivolumab , immune checkpoint inhibitors, immunotherapy, psoriasiform drug eruption, immune-related adverse events, dermoscopy, clear cell renal cell carcinoma

Pediatric Dermatology – Questions and Answers

Mirosława Kuchciak-Brancewicz, Dorota Lorenz

Abstract

Differentiating between diaper dermatitis and psoriasis of the diaper area can pose a challenge even for the most experienced clinicians. Understanding the subtle differences between these two conditions can significantly facilitate diagnosis. The article also includes information on the still-relevant topic of erythema migrans, as the number of diagnosed cases of Lyme disease is steadily increasing. It further contains data on new medications used in the treatment of psoriasis and acne vulgaris.

Abstract

Differential diagnosis between diaper dermatitis and diaper psoriasis can pose challenges even for the most experienced clinicians. Familiarity with the subtle differences between these two conditions can significantly simplify the diagnostic process. The article also includes information on the still-relevant topic of erythema migrans, as the number of cases of borreliosis is rising steadily. The article includes data on new medications used to treat psoriasis and acne.

Keywords: erythema migrans, diaper rash, diaper area psoriasis, apremilast, clasoterone

Key words: erythema migrans, diaper dermatitis, diaper psoriasis, apremilast, clascoterone