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Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This disturbance causes an accumulation and increased renal excretion of homogentisic acid (AHG), which manifests as dark urine when it oxidizes on contact with air. Other clinical manifestations of OE are the result of the deposit of AHG in the form of ochronotic pigment at the level of collagen in the skin and cartilage, where it causes blue-gray cutaneous hyperpigmentation, degenerative arthropathy, valvular disease, and other multisystem effects. Despite the progressive and irreversible nature of OE and the lack of a curative treatment, the life expectancy is preserved. We report a new case of EO with cutaneous and joint involvement, in which a high clinical suspicion, confirmed by elevated AHG in urine was the key in the diagnosis.

Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with characteristic banana-like morphology between the collagen fibers of the dermis. Both the clinical presentation and histopathology appearance are superimposable with endogenous ochronosis or alcaptonuria, a hereditary disease in which ochronotic pigment deposition occurs at a multisystemic level. The most frequent cause of EO is the use of facial depigmenting creams containing hydroquinone, a common practice among women with high phototypes. We present a woman who developed EO on the face, upper chest, and back after prolonged use of a depigmenting cream containing hydroquinone.

Background/Objectives: Patient care and control of inflammatory disorders, such as psoriasis, can be improved by model-informed precision dosing (MIPD) techniques based on population pharmacokinetic/pharmacodynamic (PK/PD) models. Clinical dose selection decisions based on MIPD strategies need to take account of the uncertainty associated with the individual PK/PD model parameters, which is determined by the quantity of individual observational data collected in clinical practice. Methods: The aim of this study was to propose an approach for personalized dosage regimens of secukinumab (SCK) in 22 Spanish patients with plaque psoriasis, whose severity level was considered moderate to severe, taking into account the uncertainty associated with individual parameters in a population-based PK/PD model. Results: The link between SCK serum concentrations and Psoriasis Area and Severity Index (PASI) scores was explained using an indirect response model. A maximum inhibition (Imax) drug effect model was applied to limit the progression of psoriatic skin lesions within the turnover PD mechanism, which explains the changes in PASI scores during treatment. A first-order remission rate constant for psoriatic lesions (kout = 0.11 day−1) was estimated. Conclusions: According to the MIPD strategy, 50% of patients would require an optimized regimen and 14% would require an intensified dosage regimen in comparison to current clinical treatment. This research has shown its usefulness as a tool for choosing individualized SCK dosage regimens in patients with long-lasting plaque psoriasis to improve the probability of achieving satisfactory response levels. [ABSTRACT FROM AUTHOR]

Background/Objectives: Implementing model-informed precision dosing (MIPD) strategies guided by population pharmacokinetic/pharmacodynamic (PK/PD) models could enhance the management of inflammatory diseases such as psoriasis. However, the extent of individual experimental data gathered during MIPD significantly influences the uncertainty in estimating individual PK/PD parameters, affecting clinical dose selection decisions. Methods: This study proposes a methodology to individualize ustekinumab (UTK) dosing strategies for 23 Spanish patients with moderate to severe chronic plaque psoriasis., considering the uncertainty of individual parameters within a population PK/PD model. Results: An indirect response model from previous research was used to describe the PK/PD relationship between UTK serum concentrations and the Psoriasis Area and Severity Index (PASI) score. A maximum inhibition drug effect (Imax) model was selected, and a first-order remission constant rate of psoriatic skin lesion (kout = 0.016 d−1) was estimated. Conclusions: The MIPD approach predicted that 35% and 26% of the patients would need an optimized and intensified dosage regimen, respectively, compared to the regimen typically used in clinical practice. This analysis demonstrated its utility as a tool for selecting personalized UTK dosing regimens in clinical practice in order to optimize the probability of achieving targeted clinical outcomes in patients with psoriasis. [ABSTRACT FROM AUTHOR]

Background: Psoriasis (Ps) and atopic dermatitis (AD) are chronic systemic immune‐mediated diseases that can coexist in an overlapping condition called psoriasis dermatitis (PD). PD patients have intermediate lesions with characteristics of both Ps and AD. PD is very rare in adults but much more frequent in children. Little is known, however, about the course of PD in the pediatric population. The aim of this study was to evaluate the percentage of PD cases in children that evolved to a definite form of Ps or AD and to identify any clinical or epidemiological variables that could predict the course of the disease. Methods: We performed a prospective multicenter cohort study of children diagnosed with PD between January 2018 and December 2020. We collected participants' clinical and epidemiological characteristics, and pediatric dermatologists determined the percentage of participants who developed Ps or AD. Results: The study included 24 children with PD, with a median age of 7.0 years. After a median follow‐up period of 31 months, 83.3% of cases had evolved to a definite form of Ps or AD (44.4% to Ps and 38.9% to AD). Younger age and family history of Ps were associated with progression to AD. Participants who progressed to AD or Ps had a longer follow‐up than those with an unchanged PD diagnosis. Conclusions: Given sufficient time, a large percentage of PD cases in children will evolve into Ps or AD. Long‐term clinical follow‐up is necessary for a correct diagnosis. [ABSTRACT FROM AUTHOR]

Background: Darier’s disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome 12q23–24. The lesions of DD are skin-coloured to brown, hyperkeratotic, greasy papules that coalesce into warty plaques commonly involving the seborrhoeic areas of the trunk and face, especially the scalp margins, temples, ears, and scalp. The most common complaint associated with the disease is itching, with exacerbations attributed to heat, sweating, sunlight, lithium, steroid therapy, stress, and menstruationObjectives: We report a patient with DD treated with topical diclofenac sodium 3%.Methods: We report a 33-year-old patient with Darier's Disease. He was followed in our department since 2009, and we had tried to control several flares of lesions during follow-up, but oral isotretinoin was not tolerated because of adverse effects; and oral doxycycline showed lack of efficacy.At April 2014, patient presented with new lesions, involving anterior chest wall, abdomen, back and shoulders areas. We started with diclofenac sodium 3% in hyaluronic acid 2.5% once daily, only applied at abdomen and anterior chest wall.Results: After six-month therapy, hyperkeratotic papules were flattened and less harshness of them was noticed, even some of them disappeared.Conclusions: We consider topical diclofenac therapy as a useful alternative treatment for DD patients, in which previous therapies have not shown efficacy. We did not observed topical adverse effects, neither systemic absorption symptoms, but werecognized further and larger studies are needed to asses the efficacy and safety of this treatment in DD.

We present a 40-year-old woman with a one-year history of a solitary and asymptomatic facial lesion. On physical examination a slightly infiltrated, smooth red to brown nodule was seen at the left malar region. A biopsy established the diagnosis of granuloma faciale. After two-months therapy with topical tacrolimus 0,1%, nodule was resolved

Pachonychia congenita is an uncommon genodermatosis, classified among the disorders of keratinization and caused by mutation of certain keratin genes.  The characteristic clinical triad is onychodystrophy, keratoderma, and plantar pain.  In addition, the patients may present with epidermal cysts, steatocystomas, leukokeratosis, and deciduous teeth.

Background Bullous pemphigoid (BP) is the most common autoimmune blistering disease. Most patients are older and have associated multiple comorbidities. Topical and systemic corticosteroids are considered the first-line treatment for BP, and immunosuppressants are used as steroid-sparing treatments. However, both have side-effects and contraindications, which are even more common in this older population. New treatments targeting interleukins and receptors related to BP pathogenesis have been proposed to decrease these side-effects while achieving equal or better effectiveness and response rates. Omalizumab is a monoclonal antibody that targets IgE and has been proposed for the treatment of BP due to the evidence that IgE autoantibodies play an essential role in BP pathogenesis. Objectives To assess the efficacy and safety of omalizumab for the treatment of BP. Methods We carried out a multicentre, retrospective, observational study including patients diagnosed with BP who received omalizumab for ≥ 3 months from 15 tertiary hospitals in Spain. IgE levels prior to treatment were measured, and we evaluated the possible correlation with clinical response. We excluded patients treated with omalizumab for < 3 months, as we consider this duration to be insufficient for a comprehensive assessment of its efficacy. To evaluate the effectiveness of the treatment, we used the percentage of body surface area improvement. Results We included 36 patients. The vast majority had associated multiple comorbidities, and all patients had used other systemic therapies apart from corticosteroids before omalizumab. In total, 83% experienced some kind of treatment response and 42% of all patients treated achieved complete response. We did not find any correlation between higher IgE levels and a better response (P = 0.2). All patients tolerated omalizumab without reported side-effects. Conclusions Omalizumab is a good therapeutic alternative for BP as it provided clinical response in most patients, and nearly one-half of the cases achieved complete response. It showed no side-effects, which is crucial in older patients with BP. [ABSTRACT FROM AUTHOR]

Background. Rapid efficacy is an important item to psoriasis patients. Risankizumab, a humanised immunoglobulin G1 monoclonal antibody that inhibits IL‐23, has demonstrated early and sustained efficacy in patients with moderated‐to‐severe psoriasis. Effectiveness data in real world, particularly regarding short‐term response, however, are scarce. Objective. To explore the short‐term effectiveness of risankizumab in patients with moderate‐severe psoriasis in normal clinical practice. Methods. This was an observational, retrospective, multicentre study carried out at thirteen hospitals in Valencia, Spain. It was conducted on a sample of adult outpatients over 18 years of age, diagnosed with moderate‐to‐severe psoriasis who received at least one subcutaneous injection of 150 mg of risankizumab. Psoriasis Area and Severity Index (PASI) was used to assess the short‐term (4 weeks) effectiveness of risankizumab. Results. One hundred and sixteen patients (63.8% men) with a mean age (standard deviation (SD)) of 50 (16) years were included in the study. 90.6% were overweight or obese, and 22.7% were biologic‐naïve. The mean (SD) PASI score decreased from 11.9 (7.2) at the baseline to 3.3 (2.7) at week 4, with a median (SD) PASI score reduction of 8.6 (2.3) (p < 0.05). The absolute PASI score of <2 was reached by 52.6% of patients. Overall, PASI scores of 75, 90, and 100 were achieved in 56%, 37.1%, and 25.9% of patients, respectively, at week 4. PASI 90 was achieved by a significantly higher proportion of naïve patients than biologic‐experience failure patients (59.3% vs. 30.3%; p = 0.01). Conclusion. This study, which reflects our initial risankizumab experience in a real‐life setting, seems to show quick effectiveness in psoriasis treatment after one single dose. This trial is registered with NCT04862286. [ABSTRACT FROM AUTHOR]

Background: Tildrakizumab is a humanized, IgG1/κ antibody that interacts with the p19 subunit of interleukin 23. It is approved for the treatment of moderate‐to‐severe plaque psoriasis. Real‐world evidence on the effectiveness and safety of tildrakizumab is limited. Objectives: To assess the effectiveness and safety of tildrakizumab at 24 weeks in patients with moderate‐to‐severe plaque psoriasis in routine clinical practice. Methods: Retrospective, observational, multicentre study including adult patients with moderate‐to‐severe plaque psoriasis treated with tildrakizumab under real‐life conditions. Patient data were extracted from anonymized electronic medical records. Statistical analysis was performed using SPSS22. Results: A total of 190 patients were included. About 53.9% were men with a mean age of 51.45 (SD 3.9) and a mean BMI of 29.13 (SD 6.21). About 79.8% (132 out of 190) of patients had previously received biological therapy (BT) and 17.3% (33 out of 191) had psoriatic arthritis. Baseline PASI was 10.7 (SD 6.53). Up to 109 patients reached Week 24 and at this point mean baseline PASI decreased to 1.7 (SD 4.8), representing an 88.79% mean PASI reduction. At 6 months, 87.1% and 40.3% of the treated patients achieved PASI ≤3 and ≤1, respectively. At Week 24 mean BSA decreased from 13.2 (SD 10.07) to 1.6 (SD 4.40) and mean DLQI went from 12.5 (SD 7.12) to 1.2 (SD 3.27). Multivariate analysis showed no differences when effectiveness was correlated with gender, obesity, psoriatic arthritis or prior exposure to BT. The rate of adverse events (AE) was 5.9% (11 out of 190), where infections were the most frequent AE (4 out of 11). One patient suffered a haemorrhagic ictus and one patient died due to causes unrelated to the study. Conclusion: Tildrakizumab was effective and safe in a large cohort of patients with moderate‐to‐severe plaque psoriasis treated in a routine clinical setting. [ABSTRACT FROM AUTHOR]