Efficacy of alitretinoin in the treatment of Darier disease: a case report.

Darier disease is a rare autosomal dominant genodermatosis that initially first presents in adolescence with scaly reddish brown keratotic papules and plaques with a seborrheic and intertriginous distribution. The absence of specific targeted medications complicates the treatment process, and managing resistant cases can prove challenging due to recurrent exacerbations that may result in serious complications such as secondary bacterial and viral infections. Treatments of choice include antiseptics, topical corticosteroids, and systemic retinoids, mainly acitretin and isotretinoin. We report the case of a female patient with Darier disease that was unsuccessfully treated with acitretin and isotretinoin but showed significant improvement with alitretinoin. Previous reports on the efficacy of alitretinoin in Darier disease are reviewed.

Tinea genitalis profunda, a diagnostic challenge: a case report and literature review.

Tinea genitalis is a relatively new entity of dermatophyte infection, observed mainly in young adults. By definition, it is localized on the mons pubis and on the labia in women, and on the penile shaft in men. It has been described as a "lifestyle disease" and potentially sexually transmitted disease. We report the case of a 35-year-old patient, an immigrant woman, with tinea genitalis profunda, presenting with painful deep infiltrative papules and plaques, purulent inflammation, and signs of secondary impetiginization. Concomitantly, tinea corporis, tinea faciei, tinea colli, and tinea capitis were diagnosed. Her skin lesions developed over an approximately 2-month period. The zoophilic dermatophyte Trichophyton mentagrophytes was cultivated from the pubogenital lesions, as well as Escherichia coli and Klebsiella pneumoniae. The patient was treated systemically with terbinafine, antibiotics, and short-term corticosteroid, and topically with antimycotic and antibiotic cream. During almost 3 weeks of hospitalization, satisfactory improvement was achieved. A literature review with new clinical and epidemiological observations is presented for this rare type of tinea, which poses a diagnostic and treatment challenge.

Pemphigus vulgaris with refractory gingival ulcerations, successfully treated with rituximab-A case report.

A patient presented with ulcerations of the buccal mucosae, palate and gingiva. A gingival biopsy confirmed the diagnosis as pemphigus vulgaris. Despite medication with systemic corticosteroids and mycophenolate mofetil, desquamative gingivitis persisted. Adjunct treatment with rituximab was therefore introduced. Regular follow-ups revealed no inflammatory gingival changes even 6 years later.

Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.

Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifestation. Generalized blistering in the neonatal period and in early infancy improves with age, with lesions becoming restricted to intertriginous areas, axial parts of the trunk, and mucous membranes. In contrast to other variants of dystrophic epidermolysis bullosa, the inverse type has a more favorable prognosis. We present a case of a 45-year-old female patient with dystrophic epidermolysis bullosa inversa, diagnosed in adulthood based on typical clinical presentation, transmission electron microscopic findings, and genetic analysis. Additionally, genetic analysis revealed that the patient also suffered from Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To our knowledge, the coexistence of these two genetic diseases has not been reported so far. We describe clinical and genetic findings in the patient and review previous reports on dystrophic epidermolysis bullosa inversa. A possible temperature-related pathophysiology for the peculiar clinical manifestation is discussed.

Inherited epidermolysis bullosa: epidemiology and patient care in Slovenia with a review of the updated classification.

INTRODUCTION: Inherited epidermolysis bullosa (EB) is a heterogeneous group of rare genetic skin disorders characterized by fragility of the skin and mucous membranes. The prevalence of all types of EB is estimated at approximately 11 per million, based on recent data from the American National Epidermolysis Bullosa Registry. METHODS: A national registry of EB has not yet been established in Slovenia. Because all cases of EB are diagnosed and treated at our department, we have collected data on all known cases of EB in Slovenia. RESULTS: Based on our data, the prevalence of all EB types in Slovenia is about 20 per million. As of December 2020, our data consist of 29 EB simplex, three junctional EB, 10 dominant dystrophic EB, and four recessive dystrophic EB patients. CONCLUSIONS: The prevalence of all EB types in Slovenia is higher compared to the estimated prevalence in the United States. The multidisciplinary care of EB patients in Slovenia has been developed based on patients' needs, including a wide group of various specialists, and it has been adapted to the resources and treatment options available. This article also reviews the up-to-date classification and diagnostic protocol for EB, and international recommendations for interdisciplinary patient care.

Clinical characteristics of pediatric hidradenitis suppurativa: a cross-sectional multicenter study of 140 patients.

Hidradenitis suppurativa (HS) rarely affects pediatric patients. The literature on pediatric HS patients is scarce. This is a cross-sectional study based on case note review or interviews and clinical examination of 140 pediatric patients undergoing secondary or tertiary level care. Patients were predominantly female (75.5%, n = 105) with a median age of 16. 39% reported 1st-degree relative with HS. Median BMI percentile was 88, and 11% were smokers (n = 15). Median modified Sartorius score was 8.5. Notable comorbidities found were acne (32.8%, n = 45), hirsutism (19.3%, n = 27), and pilonidal cysts (16.4%, n = 23). Resorcinol (n = 27) and clindamycin (n = 25) were the most frequently used topical treatments. Patients were treated with tetracycline (n = 32), or oral clindamycin and rifampicin in combination (n = 29). Surgical excision was performed in 18 patients, deroofing in five and incision in seven patients. Obesity seemed to be prominent in the pediatric population and correlated to parent BMI, suggesting a potential for preventive measures for the family. Disease management appeared to be similar to that of adult HS, bearing in mind that the younger the patient, the milder the disease in majority of cases.

Atypical hand, foot, and mouth disease in an adult patient: a case report and literature review.

Hand, foot, and mouth disease is a highly contagious disease that predominantly affects children under the age of five. The illness is much less common in adults and often presents with atypical skin lesions. Here we describe the case of a 19-year-old healthy, immunocompetent male patient with atypical clinical presentation, with a macular rash on the scalp, palms, soles, and shins, and with minimal lesions in the oral cavity. The diagnosis of hand, foot, and mouth disease was confirmed by isolation of coxsackievirus A6 from a vesicle smearobtained on the right sole. The skin lesions resolved spontaneously in 1 week. This case emphasizes the underestimated fact that hand, foot, and mouth disease can also occur in adults, in either typical or frequently atypical form, and it highlights the role of coxsackievirus A6. Together with the case presentation, a review of the literature describing the disease in adults is presented.

Human Infections with Microsporum gypseum Complex (Nannizzia gypsea) in Slovenia.

Microsporum gypseum complex is a group of geophillic dermatophytes with a worldwide distribution and is a rare cause of dermatomycoses in humans. The infection most commonly presents as tinea corporis, with some geographical and occupational variations. We studied M. gypseum complex infections in patients examined in the Mycological Laboratory of the Department of Dermatovenereology, University Medical Centre Ljubljana, during the period 2000-2015. Diagnosis was confirmed by mycological examination. Skin scales were examined by direct microscopy and cultivated on Sabouraud glucose agar. A total of 226 patients were identified, representing 1.5% of all dermatophyte infections during the study period. Tinea corporis was diagnosed in majority of patients, followed by tinea manus, tinea faciei, tinea inguinalis and tinea pedis. Tinea capitis was observed in three and onychomycosis in two patients only. Infection was disseminated on different parts of the body in nine patients. In 39% of patients, infection was diagnosed in children younger than 9 years. Face and scalp infection was more often observed in children. The incidence was the highest during July and October. Contacts with soil and domestic animals were often reported. Data on the prevalence and clinical characteristics of M. gypseum complex infection in other countries are reviewed.

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.

BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible in all EB subtypes and required for prenatal diagnosis. The extent of skin and mucosal lesions varies greatly depending on EB subtype and patient age. In the more severe EB subtypes lifelong generalized blistering, chronic ulcerations and scarring sequelae lead to multiorgan involvement, major morbidity and life-threatening complications. In the absence of a cure, patient management remains based on preventive measures, together with symptomatic treatment of cutaneous and extracutaneous manifestations and complications. The rarity and complexity of EB challenge its appropriate care. Thus, the aim of the present study has been to generate multicentre, multidisciplinary recommendations on global skin care addressed to physicians, nurses and other health professionals dealing with EB, both in centres of expertise and primary care setting. METHODS: Almost no controlled trials for EB treatment have been performed to date. For this reason, recommendations were prepared by a multidisciplinary team of experts from different European EB centres based on available literature and expert opinion. They have been subsequently revised by a panel of external experts, using an online-modified Delphi method to generate consensus. RESULTS: Recommendations are reported according to the age of the patients. The major topics treated comprise the multidisciplinary approach to EB patients, global skin care including wound care, management of itching and pain, and early diagnosis of squamous cell carcinoma. Aspects of therapeutic patient education, care of disease burden and continuity of care are also developed. CONCLUSION: The recommendations are expected to be useful for daily global care of EB patients, in particular in the community setting. An optimal management of patients is also a prerequisite to allow them to benefit from the specific molecular and cell-based treatments currently under development.

A case of inverse psoriasis successfully treated with adalimumab.

Inverse psoriasis is a rare form of psoriasis characterized by the involvement of skin fold areas rather than the more common psoriatic involvement of the extensor surfaces of the extremities, trunk, and scalp. In addition, it requires a modified therapeutic approach because it is often less responsive to standard treatment regimens. Current treatment recommendations for inverse psoriasis mainly consist of topical agents, including corticosteroids, calcipotriol, and immunomodulating agents, whereas systemic medications remain insufficiently studied. Although adalimumab, a TNF-α inhibitor, has been approved for the treatment of moderate to severe plaque psoriasis, some reports indicate that TNF-α inhibitors may sometimes trigger psoriatic lesions, including inverse psoriasis. However, we present a case of inverse psoriasis and psoriatic arthritis unresponsive to standard treatment that was successfully treated with adalimumab.

Figurate erythema in a patient with bullous pemphigoid and Toxocara infection.

Figurate erythema can appear in a wide spectrum of dermatological diseases. Rarely, it can present as an atypical manifestation of bullous pemphigoid. Among eosinophilic dermatoses, figurate erythema may appear in Wells syndrome, which has been occasionally reported in association with Toxocara infection. We present the case of an older female patient diagnosed with bullous pemphigoid, who presented with an unusual combination of blisters and figurate erythema outside the area of blister formation. In addition, high blood eosinophilia associated with lymph node and bone marrow eosinophilia was diagnosed and was causally related to Toxocara canis infection. The patient was treated with dapsone for bullous pemphigoid and with albendazole for toxocariosis, with complete regression of all skin lesions and blood eosinophilia. This paper discusses the possible etiopathogenesis of figurate erythema in our patient and summarizes previous clinical and histological findings in bullous pemphigoid and eosinophilic dermatoses presenting with figurate erythema lesions.

Delayed diagnosis of Mycobacterium marinum infection: A case report and review of the literature.

Mycobacterium marinum infection is the most common atypical skin mycobacterial infection of increasing importance. It results from skin injury and contact with contaminated aquarium water, fish, or shellfish; it is only rarely related to swimming pool sources nowadays. Diagnosis should be confirmed by isolation and identification of the organism; however, this gold standard is difficult to achieve in practice. Therefore, the diagnosis is primarily based on clinical examination, histopathology, and response to therapy. Awareness of this infection is still low and diagnosis often delayed, as presented in this case of a young immunocompetent patient with M. marinum infection of a chronic course. The reasons for the delay in diagnosis are discussed and current diagnostic and treatment recommendations are reviewed.

Infliximab for treatment of resistant pyoderma gangrenosum associated with Crohn's disease.

We present the case of an 18-year-old woman with Crohn's disease manifested by diffuse abdominal pain, bloody diarrhea accompanied by arthralgia, and swelling of large joints. On the lateral aspect of her right ankle there was an hemorrhagic, necrotic bullous lesion measuring 3 x 4 cm, surrounded by cutaneous inflammation and erythema. Biopsy showed a neutrophilic abscess-like ulcerative skin inflammation, which was diagnosed as pyoderma gangrenosum. The patient was treated with high doses of parenteral methylprednisolone, but her condition failed to improve and infliximab, a TNF-alpha blocking agent, was instituted. An immediate response of Crohn's disease was observed and, over the next 5 weeks, the ulcer on her right ankle also healed completely.

Density of Demodex folliculorum in perioral dermatitis.

The role of Demodex folliculorum in perioral dermatitis is not satisfactory explained. Our purpose was to assess the density of D. folliculorum in perioral dermatitis and evaluate the relationship of the mite count to previous therapy with topical steroids. A standardized skin surface biopsy of the chin was performed in 82 female patients with perioral dermatitis and in 70 control female subjects. Patients who received previous topical steroid therapy had a significantly higher mite density than the patients who had received no topical steroids (p<0.001). In the latter group of patients, the mite density did not differ significantly from that of the control group (p=0.629). Mite density increased significantly with the length of treatment with topical steroids (p<0.001). Our results suggest that increased density of D. folliculorum in perioral dermatitis is a secondary phenomenon, associated with topical steroid therapy.

Dermatophyte infections in the Ljubljana region, Slovenia, 1995-2002.

We studied dermatophyte infections in patients, examined in the Mycological Laboratory of the Department of Dermatology, University Medical Centre Ljubljana during the period 1995-2002. A total of 42,494 samples were collected from 33,974 patients suspected to have dermatomycosis. Dermatophytes were identified in 8286 (71.2%) positive cultures. Microsporum canis was the most frequent dermatophyte isolated (46.8%), followed by Trichophyton rubrum (36.7%), T. mentagrophytes var. interdigitale (7.9%) and T. mentagrophytes var. mentagrophytes (4.9%). Less frequently isolated were M. gypseum, T. verrucosum, Epidermophyton floccosum, T. tonsurans and T. violaceum. The most common dermatophyte infections included tinea corporis, onychomycosis, tinea pedis and tinea faciei. Zoophilic dermatophytes were most commonly recovered from children and adolescents with tinea capitis, tinea corporis and tinea faciei. Anthropophilic species were identified mostly in adults with tinea pedis, onychomycosis and tinea inguinalis. During the period studied, we recorded a decline in the rate of M. canis infections, while infections produced by T. rubrum increased in frequency.