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The Journal of Dermatological Treatment Dec 2024Generalized pustular psoriasis (GPP) is a rare auto-inflammatory disease. Patients with GPP may develop life-threatening complications, including sepsis, acute renal...
Generalized pustular psoriasis (GPP) is a rare auto-inflammatory disease. Patients with GPP may develop life-threatening complications, including sepsis, acute renal failure, neutrophilic cholangitis, high-output congestive heart failure, acute respiratory distress syndrome and death. The therapy of GPP is very limited and the course of the disease is unpredictable. We report a 60-year-old woman presenting with widespread and confluent erythematous-desquamative plaques with numerous small pustules covering almost 70% of the body surface area. Over the past years patient had undergone different types of conservative treatment regimens including topical therapy, acitretin, cyclosporin, methotrexate and long-term treatment with systemic corticosteroids. Considering the patient's overall clinical condition, we proceed to initiate the biologic therapy with guselkumab. Guselkumab (anti-IL-23) in the standard dose of 100 mg was administered subcutaneously at weeks 0, 4 and followed by a maintenance dose every 8 weeks. The remission of GPP was observed already after 12 weeks of treatment. The maintenance treatment in the period of 18 months shows stable clinical response. Our results support the evidence that guselkumab could provide an effective therapeutic approach in the treatment of GPP.
Topics: Female; Humans; Middle Aged; Psoriasis; Antibodies, Monoclonal, Humanized; Acitretin; Methotrexate; Chronic Disease; Acute Disease
PubMed: 38522861
DOI: 10.1080/09546634.2024.2331807 -
Frontiers in Immunology 2024Generalized pustular psoriasis (GPP) is a rare chronic inflammatory pustular dermatosis that presents as painful erythema with sterile pustules on nonacral skin. No...
Generalized pustular psoriasis (GPP) is a rare chronic inflammatory pustular dermatosis that presents as painful erythema with sterile pustules on nonacral skin. No unified standard and guideline for the treatment of GPP has been established. Several biologics have been tried for GPP, with varying success. Acrodermatitis continua of Hallopeau (ACH) is a very rare disabling variant of pustular psoriasis characterized by sterile pustules on the fingers and toes, including the nail bed. Comparatively, treating ACH is highly challenging due to its commonly therapy-resistant disease course. The pathogenic role of IL-36 signaling axis has been currently identified in GPP development. Spesolimab, the first anti-interleukin-36 receptor biologic, has been approved for treating GPP flares and shown promising results. In view of a shared pathogenesis between GPP and ACH, specolimab may be an effective treatment for ACH. Currently, there is no case and clinical trial data exist on this condition. Therefore, this case was aim to describe real-world experience of spesolimab use in ACH coexisting with GPP. We report an Asian patient with a 16-year-history of GPP and ACH with marked pustulosis on the nail bed and onychodystrophy. He received conventional systemic regimen acitretin, cyclosporine and biologics adalimumab and secukinumab, but experienced relapse for skin lesions and refractory for nail lesions. He was then treated with a single dose of spesolimab in combination with secukinumab, which resulted in skin clearance and nearly complete resolution of nail lesions over a 32-week period. Our observation suggests that spesolimab should be considered for the treatment of ACH, especially in the patients with intractable nail lesions and concomitant GPP.
Topics: Male; Humans; Acrodermatitis; Psoriasis; Skin; Biological Products; Antibodies, Monoclonal, Humanized
PubMed: 38464535
DOI: 10.3389/fimmu.2024.1338285 -
Clinical, Cosmetic and Investigational... 2024Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare immune-mediated inflammatory disease, poses diagnostic and therapeutic challenges owing...
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, a rare immune-mediated inflammatory disease, poses diagnostic and therapeutic challenges owing to its multi-system involvement, high heterogeneity, and lack of specific laboratory tests. Additionally, lacking evidence-based treatment recommendations, with the primary approach focusing on symptomatic relief. Herein, we report the case of a 32-year-old Chinese woman who presented with recurrent, generalized multiple osteoarticular pain lasting over one year and skin erythema pustulosis for 11 months. Traditional treatments, including non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, disease-modifying antirheumatic drugs (DMARDs), and other traditional approaches, yielded no significant effects. Despite the prior use of adalimumab and acitretin capsules, the treatment remained unsatisfying, especially regarding the skin lesions. Considering the complex pathogenesis of SAPHO syndrome, the patient was orally administered baricitinib (2 mg), a Janus kinase (JAK) inhibitor, twice daily. A notable improvement in both skin lesions and osteoarticular pain was observed within two weeks of treatment initiation. Subsequently, the dosage of baricitinib was halved and continued for an additional three months, during which regular follow-ups revealed neither disease recurrence nor adverse effects. Collectively, the successful treatment of refractory SAPHO syndrome with baricitinib presents a promising implication for addressing the therapeutic challenges of this rare autoimmune condition, offering a potential breakthrough in managing its complex manifestations.
PubMed: 38463557
DOI: 10.2147/CCID.S446468 -
Cureus Feb 2024Grover's disease, also known as transient acantholytic dermatosis (TAD), currently has no published randomized control trials regarding the treatment of the disease;...
Grover's disease, also known as transient acantholytic dermatosis (TAD), currently has no published randomized control trials regarding the treatment of the disease; thus, evidence for treatment is largely derived from case studies and case reports. In this case series, we summarize the current treatment options for Grover's disease and discuss two cases of refractory Grover's disease treated with low-dose oral isotretinoin in patients who previously failed to reach clearance with multiple treatment options. Our aim is to highlight the efficacy of low-dose systemic retinoid therapy in Grover's disease when other treatment options prove unsatisfactory.
PubMed: 38440005
DOI: 10.7759/cureus.53510 -
Medicine Mar 2024Darier disease (DD) is a rare autosomal dominant disorder that primarily manifests as hyperkeratotic papules and itching. The underlying etiology of DD is pathogenic...
RATIONALE
Darier disease (DD) is a rare autosomal dominant disorder that primarily manifests as hyperkeratotic papules and itching. The underlying etiology of DD is pathogenic variation in the ATP2A2 gene. However, this disease has a high penetrance but variable expressivity, indicating that patients inheriting the genotype may have different manifestations due to exogenous factors. Meanwhile, a few reports have documented that COVID-19 may be implicated in the flare of DD.
PATIENT CONCERNS
A 51-year-old man presented with keratotic papules and scaly erythematous rash on his trunk with pruritus after being infected with COVID-19. Laboratory test results were normal. Histological analysis revealed epidermal hyperkeratosis and intraepidermal lacunae containing dyskeratinized cells. Genetic analysis revealed a novel variant of ATP2A2 (c.815G>A, p.Trp272*), which was considered pathogenic in this case.
DIAGNOSES
The patient was diagnosed as having DD.
INTERVENTIONS
Oral acitretin and topical corticosteroid hormone ointments were used.
OUTCOMES
The patient achieved complete resolution of symptoms during the 3-month follow-up period.
LESSONS
We revealed the first novel ATP2A2 variant (c.815G>A, p.Trp272*) in the flare of DD following COVID-19 infection. Additionally, this pathogenic variant enriches the ATP2A2 gene mutation spectrum.
Topics: Male; Humans; Middle Aged; Darier Disease; COVID-19; Mutation; Genotype; Pruritus; Sarcoplasmic Reticulum Calcium-Transporting ATPases
PubMed: 38428853
DOI: 10.1097/MD.0000000000037335 -
Case Reports in Dermatology 2024Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very...
INTRODUCTION
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosis linearis circumflexa to exfoliative erythroderma. It can be fatal in the first days of a newborn's life due to dehydration, hypothermia, weight loss, respiratory infections, and sepsis. A specific anomaly of the hair trichorrexis invaginata is considered pathognomonic for the syndrome. Genetic testing of gene is key to confirming the diagnosis and starting early treatment.
CASE PRESENTATION
We present a case report of NS in a 6-year-old boy who suffered from generalized erythroderma and desquamation of the skin from birth. The patient has atopic diathesis, recurrent skin infections, increased levels of IgE, and delayed physical development. Two genetic variants in gene with clinical significance were identified. The first detected variant is a nonsense mutation, predicted to cause loss of normal protein function either by protein truncation or by nonsense-mediated mRNA decay. The second variant is a likely pathogenic frameshift mutation that truncates the protein in 5 amino acids. The child was treated with acitretin, without satisfactory effect.
CONCLUSION
The genetic variant we have described correlates with a severe clinical phenotype of NS. The second genetic variant of the gene, inherited from the father in our case, is novel and has never been published in the literature.
PubMed: 38406644
DOI: 10.1159/000536083 -
Indian Journal of Dermatology 2023Generalised pustular psoriasis(GPP) is a rare, potentially life-threatening variant of psoriasis with acute onset, widely spread pustular lesions on an inflamed base...
Generalised pustular psoriasis(GPP) is a rare, potentially life-threatening variant of psoriasis with acute onset, widely spread pustular lesions on an inflamed base associated with a systemic inflammatory state. In the setting of the current COVID-19 pandemic, flares in pustular psoriasis have been reported, however these flares leading to mortality in SARS-CoV-2 infected patients is hitherto unreported. We present two cases of GPP flare following SARS-CoV-2 infection with fatal outcome. A 20 year old male, known case of GPP since 5 years presented with an exacerbation of his existing disease for 2 months. He had received methotrexate, cyclosporine, acitretin, apremilast, infliximab and secukinumab in the past. He was admitted and started on inj. methotrexate (subcutaneous) and cap. acitretin. During admission, he developed COVID-19 associated severe acute respiratory distress syndrome(ARDS). Despite timely intervention with life-saving measures, the patient could not be saved. The second case was a 52-year-old female, a case of GPP on treatment for the last 10 years, being maintained on cap. acitretin and cyclosporine. She also developed ARDS due to COVID infection. Despite being on acitretin for GPP and the appropriate management of severe COVID infection, her condition worsened and she expired within one day of admission. Both of our patients were not vaccinated against COVID-19. Awareness of potential risk of mortality in patients of GPP getting co-infected by COVID-19 is thus essential for dermatologists.
PubMed: 38371580
DOI: 10.4103/ijd.ijd_914_22 -
Dermatology Practical & Conceptual Jan 2024Obesity plays a major role in the development of many inflammatory disorders including psoriasis.
INTRODUCTION
Obesity plays a major role in the development of many inflammatory disorders including psoriasis.
OBJECTIVES
We aimed to demonstrate how treatment responses change according to body mass index (BMI) among patients with psoriasis.
METHODS
In our study, Psoriasis Area and Severity Index (PASI) 75 and PASI 90 responses were assessed at baseline and at months 1 and 3 among patients who received TNF-α inhibitors, ustekinumab, IL-17 blockers, and IL-23 blockers. The same responses were also assessed with methotrexate and acitretin for a comparison group. Analyses were performed retrospectively.
RESULTS
The study included 317 patients who received 222 biological and 95 conventional treatments. In the group with BMI ≥30, the proportion of patients who achieved PASI 75 response was 40.0% (N = 26) at month 1 and 55.4% (N = 36) at month 3. The proportion of patients who achieved PASI 90 response was 33.8% (N = 22) at month 1 and 44.6% (N = 29) at month 3 among those receiving biological agents. Improvement was significantly more difficult among obese patients. The proportion of patients who achieved PASI 75 response was 3.6% at month 1 and 25.0% (N = 7) at month 3 among patients receiving conventional systemic treatments. While the presence of joint involvement affected the success of treatment among obese patients with psoriasis, no relationships were found for smoking, the presence of concomitant psychiatric diseases, or the presence of pruritus in psoriasis.
CONCLUSIONS
Biological agents were more successful in achieving PASI 75 and PASI 90 responses in both non-obese and obese individuals. Based on our study, among biological agents, IL-17 and IL-23 inhibitors may be more successful among obese individuals, but neither of them shows superiority over the other.
PubMed: 38364434
DOI: 10.5826/dpc.1401a58