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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 -
Journal of the American Academy of... Jun 2024For psoriatic patients who need to receive nonlive or live vaccines, evidence-based recommendations are needed regarding whether to pause or continue systemic therapies...
Vaccination recommendations for adults receiving biologics and oral therapies for psoriasis and psoriatic arthritis: Delphi consensus from the medical board of the National Psoriasis Foundation.
BACKGROUND
For psoriatic patients who need to receive nonlive or live vaccines, evidence-based recommendations are needed regarding whether to pause or continue systemic therapies for psoriasis and/or psoriatic arthritis.
OBJECTIVE
To evaluate literature regarding vaccine efficacy and safety and to generate consensus-based recommendations for adults receiving systemic therapies for psoriasis and/or psoriatic arthritis receiving nonlive or live vaccines.
METHODS
Using a modified Delphi process, 22 consensus statements were developed by the National Psoriasis Foundation Medical Board and COVID-19 Task Force, and infectious disease experts.
RESULTS
Key recommendations include continuing most oral and biologic therapies without modification for patients receiving nonlive vaccines; consider interruption of methotrexate for nonlive vaccines. For patients receiving live vaccines, discontinue most oral and biologic medications before and after administration of live vaccine. Specific recommendations include discontinuing most biologic therapies, except for abatacept, for 2-3 half-lives before live vaccine administration and deferring next dose 2-4 weeks after live vaccination.
LIMITATIONS
Studies regarding infection rates after vaccination are lacking.
CONCLUSION
Interruption of antipsoriatic oral and biologic therapies is generally not necessary for patients receiving nonlive vaccines. Temporary interruption of oral and biologic therapies before and after administration of live vaccines is recommended in most cases.
Topics: Humans; Psoriasis; Arthritis, Psoriatic; Delphi Technique; Biological Products; Administration, Oral; Consensus; Vaccination; Adult; COVID-19; COVID-19 Vaccines; SARS-CoV-2; Methotrexate; Dermatologic Agents
PubMed: 38331098
DOI: 10.1016/j.jaad.2023.12.070 -
Orbit (Amsterdam, Netherlands) Feb 2024An 82-year-old male presented with generalised Pityriasis rubra pilaris (PRP) managed initially by dermatology team. The patient did not respond to first- and...
An 82-year-old male presented with generalised Pityriasis rubra pilaris (PRP) managed initially by dermatology team. The patient did not respond to first- and second-line treatment, including oral acitretin, steroid creams, and methotrexate, and developed bilateral cicatricial ectropion, for which he was referred to oculoplastic team for surgical management. A head injury resulting in subacute subdural haematoma, managed with a week course of low dose oral dexamethasone, resulted in the improvement of his skin condition and complete resolution of the cicatricial ectropion within a few weeks. Thus, systemic treatment of PRP with oral dexamethasone may be considered sooner in the treatment of cicatricial ectropion in similar cases.
PubMed: 38319642
DOI: 10.1080/01676830.2024.2311657 -
Clinical and Experimental Dermatology May 2024Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the...
BACKGROUND
Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of periodic acid-Schiff (PAS)-positive, hyaline-like material on the skin, mucosae and internal organs.
OBJECTIVES
To present a case report of LP and a systematic review to synthesize the scientific literature on the management of this uncommon and frequently missed diagnosis.
METHODS
We present a case report of a 48-year-old man with LP who exhibited significant improvement after oral acitretin therapy. To address the lack of large case-control studies on LP treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the Joanna Briggs Collaboration critical appraisal tool.
RESULTS
We included 25 studies that met eligibility criteria. Data from 44 patients with a histopathologically confirmed diagnosis were analysed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions.
CONCLUSIONS
Low-dose oral acitretin could have potential in managing LP, exhibiting fewer side-effects compared with other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines.
Topics: Humans; Lipoid Proteinosis of Urbach and Wiethe; Male; Acitretin; Middle Aged; Keratolytic Agents; Treatment Outcome
PubMed: 38308656
DOI: 10.1093/ced/llae039 -
Heliyon Jan 2024Although clinical trials and real-world data suggest that the risk of COVID-19 and its complications is not exacerbated in patients with psoriasis treated by biological...
BACKGROUND
Although clinical trials and real-world data suggest that the risk of COVID-19 and its complications is not exacerbated in patients with psoriasis treated by biological agents, the evidence for this is still limited.
OBJECTIVES
We aimed to assess the outcomes of COVID-19 among Chinese patients with psoriasis treated by IL-23 inhibitor, and to compare these variables in patients receiving other therapies.
METHODS
A cross-sectional cohort study was conducted to compare psoriasis treatment with IL-23 inhibitor to other treatment methods. All the patients received a questionnaire that contained questions about their psoriasis treatment, COVID-19 symptoms, and related risk factors. The prevalence of COVID-19 was calculated, and logistic regression analyses were performed to determine the association between treatment method and COVID-19 risk. The symptoms of COVID-19 and long COVID were described for each treatment group.
RESULTS
Between December 2022 and February 2023, 732 patients with psoriasis were included in the final analysis. 549 patients had a SARS-CoV-2 infection during the study period. Our results showed that individuals who worked outdoors had a decreased risk of COVID-19, as did those who had other allergic disease. With regard to the effect of the treatment regimens, IL-23 inhibitor treatment was associated with a decreased risk of COVID-19 compared to almost all the other treatments except acitretin. Fever was the most common symptom, but the maximum temperature and duration of fever were comparable among the treatment groups. Patients treated with IL-23 inhibitor were more likely to be asymptomatic after recovery compared to patients treated with methotrexate, narrow-bound ultra violet B, or TNF-α inhibitor.
CONCLUSIONS
IL-23 inhibitor treatment may lower the risk of COVID-19 and long COVID. Thus, IL-23 inhibitor treatment might be beneficial and positively considered for patients with psoriasis who require systemic treatment during periods when there is a surge in COVID-19 cases.
PubMed: 38293509
DOI: 10.1016/j.heliyon.2024.e24096 -
BMJ Case Reports Jan 2024A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which -associated papulosquamous eruption (CAPE) is a rare cause. An...
A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which -associated papulosquamous eruption (CAPE) is a rare cause. An infant boy presented with a psoriasiform rash that progressed to erythroderma and was unresponsive to topical steroids and cyclosporine. The early onset of the disease, its severity and resistance to conventional treatment were suggestive of a genetic cause. Genetic evaluation revealed a homozygous variant of uncertain significance establishing the diagnosis of CAPE, and his parents were heterozygous carriers. There was only minimal improvement in the condition with supportive management and treatment with acitretin. Unfortunately, the child succumbed to sepsis and metabolic complications following a sudden worsening of skin disease. This case highlights the significance of genetic studies in diagnosing treatment-refractory cases of infantile erythroderma and emphasises the importance of early recognition of this rare condition.
Topics: Infant; Male; Child; Humans; Dermatitis, Exfoliative; Acitretin; Cyclosporine; Guanylate Cyclase; Membrane Proteins; CARD Signaling Adaptor Proteins
PubMed: 38233005
DOI: 10.1136/bcr-2022-254090 -
The Medical Letter on Drugs and... Jan 2024
Topics: Humans; Psoriasis; Antibodies, Monoclonal, Humanized; Ustekinumab
PubMed: 38212257
DOI: 10.58347/tml.2024.1694b -
Acta Dermatovenerologica Alpina,... Dec 2023Darier disease is a rare autosomal dominant genodermatosis that initially first presents in adolescence with scaly reddish brown keratotic papules and plaques with a...
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.
Topics: Adolescent; Humans; Female; Darier Disease; Alitretinoin; Acitretin; Isotretinoin; Dermatologic Agents
PubMed: 38126103
DOI: No ID Found