Dermatological Manifestations Research Articles

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

Atorvastatin-Associated Eosinophilic Spongiosis: A Case Report and a Relevant Literature Review of Dermatological Manifestations

Atorvastatin-Associated Eosinophilic Spongiosis: A Case Report and a Relevant Literature Review of Dermatological Manifestations

#332 Dermatological manifestations in pediatric CKD patients

Abstract Background and Aims Chronic kidney disease (CKD), regardless of its cause, may be accompanied by various skin lesions. The most common symptom in children suffering from CKD is pruritus however other signs that may be seen are xerosis, skin hyperpigmentation, ecchymoses, acquired perforating dermatoses, nail lesions, calcinosis cutis, as well as eczematous lesions at the site of an arteriovenous fistula and skin infections. Data on different skin lesions in children with CKD is very limited; only few reports have been published discussing xerosis in pediatric patients and most studies were conducted on a small number of patients who needed renal replacement therapy . This study aimed primarily to screen the different dermatological manifestations in pediatric patients with CKD, in addition to studying the relationship of dermatological manifestations with the CKD stage, types of dialysis, various clinical and metabolic parameters. Method This was a cross sectional study, that was conducted at Pediatric Dialysis and Nephrology unit, Children's Hospital, Faculty of Medicine, Ain Shams University Hospital, Cairo, Egypt, during the period from February 2023 to August 2023, where 70 patients were enrolled in our study being divided into two groups: group 1 including CKD patients stages (2-4) and group 2 including CKD patients with stage 5 on regular hemodialysis. Detailed dermatological & nail examination were conducted. Xerosis severity was assessed using a four-point xerosis assessment scale (0, normal skin, without any xerosis; 1, mild xerosis; 2, moderately dry skin with minimal flaking; 3, severe xerosis, heavy scaling visible), whereas pruritus was assessed using a visual analogue scale (VAS) on a scale of 1 (no itch) to 10 (worst possible itch). Laboratory data were withdrawn at the time of examination to correlate with different dermatological manifestation. Results In our study, xerosis was the most frequent dermatological manifestation (78.6%) following it pruritus (62.9%) then pallor (35.7%), hyperpigmentation (20%), hypertrichosis (10 %), nail and hair abnormalities (8.5%) & post inflammatory hyperpigmentation (4.3%). The prevalence of xerosis was not affected by clinico-demographic data, CKD duration & stage, type and duration of dialysis, the only significant relation was between efficacy of dialysis (Kt/V) and incidence of xerosis, where the higher dialysis efficacy rates were associated with low incidence rates of xerosis, in which effective hemodialysis contributes to better removal of uremic toxins, & hence decrease the xerosis. Leukocytosis was noticed in xerotic & pruritic patients, where xerosis & impaired skin barrier in children with CKD pose a risk for different cutaneous infections & inflammation, and hence pruritis. Conclusion Xerosis and pruritis are not uncommon dermatological manifestations among pediatric patients with chronic kidney disease, meanwhile the age of the patients and the underlying CKD etiology had no direct effect on skin changes. The most determinant factory affecting the xerosis was the hemodialysis efficacy, where higher efficacy was associated with less xerosis, meanwhile leukocytosis was associated with higher xerosis and pruritis. Further studies are needed to detect various skin manifestations in CKD patients with different CKD stages and correlate it with the used dialysis modalities.

#1371 Cutaneous manifestations in hemodialysis patients and assessment of the changes in quality of life after 12 weeks of treatment by dermatologist

Abstract Background and Aims Cutaneous manifestations are frequently found in end-stage kidney disease (ESKD) and disturbing quality of life of patients under maintenance hemodialysis. Even dialysis patients frequently visit the hospital, they do not receive active dermatologic care. The aim of this study is to assess the cutaneous manifestations of hemodialysis patients and to investigate changes in quality of life before and after active treatment by dermatologists. Method A 12-weeks, prospective study was conducted with two centers of hemodialysis. Patients in one center received dermatologic intervention and patients in another center received supportive management by nephrologist. Patients scored their quality of life using questionnaires, Dermatology Life Quality index (DLQI) and Skindex-29, on start of study and 12 weeks later. Patients were matched between two groups according to propensity score. Simple and multiple linear regression were used to identify associations of dermatologic treatment and improvement of quality of life. Results A total of 120 patients from two dialysis centers were included in this study, of whom 65 as intervention group and 55 of control group. About 93.8% of patients had dermatologic manifestations, and pallor and xerosis accounted for the most proportion. Improvement in quality of life as assessed by the DLQI were confirmed after 12 weeks in overall population. However, the active intervention by a dermatologist did not affect the improvement of quality of life significantly. Conclusion Patients treated with dermatologic intervention by dermatologist had not improved in quality of life compared with control group. It is important for a nephrologist to carefully assess skin issues of patients with ESKD and provide the best possible treatment.

Juvenile dermatomyositis with Anti-SAE antibodies in a Moroccan child associated with pseudo-angioedema: a case report

BackgroundJuvenile Dermatomyositis (JDM) is the leading cause of non-infectious inflammatory myopathy in children. It is a heterogeneous group of autoimmune diseases characterized by a variable combination of muscular, dermatological, and visceral involvement. Myositis-specific autoantibodies help define homogeneous subgroups with common clinical characteristics and prognoses. Anti-SAE (small ubiquitin-like modifier 1 (SUMO-1) activating enzyme) antibodies are among the most recently discovered specific autoantibodies. The presence of these antibodies is very rare, making it challenging to define clinical features and prognosis in the juvenile form. We report the first case of an African patient with juvenile dermatomyositis and positive anti-SAE antibodies.Case ReportA 5-year-3-month-old Moroccan boy presented to the pediatric emergency department with dysphagia that had been evolving for two days, preceded two months earlier by facial erythema associated with fatigue, lower limb pain, difficulty walking, and progressive inflammatory polyarthralgia. On admission, the child had a heliotrope rash with predominant pseudo-angioedema on the lips, periungual telangiectasia, and Gottron’s papules over the bilateral interphalangeal and metatarsophalangeal joints. The patient had a more pronounced proximal muscle weakness in the lower limbs. He had no urticaria, fever, arthritis, calcinosis, cutaneous ulcers, or lipodystrophy. The Joint examination was normal, as was the pleuropulmonary examination. The electroneuromyography showed myogenic changes in all four limbs. Laboratory findings showed elevated levels of creatine phosphokinase and lactate dehydrogenase and a mild inflammatory syndrome. The electrocardiogram was normal. The anti-SAE antibodies were positive. The boy was diagnosed with juvenile dermatomyositis. He received methylprednisolone bolus therapy followed by oral prednisone. The latter was gradually tapered in combination with weekly intramuscular methotrexate. As a result, dysphagia disappeared within 48 h. After two weeks, there was an improvement in the muscular score and a significant regression of facial pseudo-angioedema.ConclusionWe report the first African patient with anti-SAE autoantibody-positive JDM. He had a typical dermatological manifestation of JDM associated with pseudo-angioedema predominant on the lips; a rarely reported sign in DM and JDM patients. The patient responded well to corticosteroid therapy and methotrexate.

Dermatological manifestations in endocrine disorders

Dermatological manifestations in endocrine disorders

The Use of Biologic Agents for the Treatment of Cutaneous Immune-Related Adverse Events from Immune Checkpoint Inhibitors: A Review of Reported Cases.

Cutaneous immune-related adverse events encompass a spectrum of dermatological manifestations, including lichenoid reactions, psoriasiform eruptions, eczematous dermatitis, immunobullous disorders, granulomatous reactions, pruritus, vitiligo, and severe cutaneous adverse reactions such as Stevens-Johnson syndrome. The conventional approach to treating high-grade or refractory cutaneous immune-related adverse events has involved high-dose systemic corticosteroids. However, their use is limited owing to the potential disruption of antitumor responses and associated complications. To address this, corticosteroid-sparing targeted immunomodulators have been explored as therapeutic alternatives. Biologic agents, commonly employed for non-cutaneous immune-related adverse events such as colitis, are increasingly recognized for their efficacy in treating various patterns of cutaneous immune-related adverse events, including psoriasiform, immunobullous, and Stevens-Johnson syndrome-like reactions. This review consolidates findings from the English-language literature, highlighting the use of biologic agents in managing diverse cutaneous immune-related adverse event patterns, also encompassing maculopapular, eczematous, and lichenoid eruptions, pruritus, and transient acantholytic dermatosis (Grover disease). Despite the established efficacy of these agents, further research is necessary to explore their long-term effects on antitumor responses.

Treatment outcome of the tyrosine kinase inhibitor (bosutinib) in previously treated chronic myeloid leukemia patients (sample of Iraqi patients)

Abstract BACKGROUND: Chronic myeloid leukemia (CML) is a type of myeloproliferative neoplasm characterized by the excessive accumulation of malignant myeloid cells in the bone marrow and peripheral blood. This condition is primarily triggered by a specific chromosomal translocation known as t(9;22) (q34.13;q11.23), which leads to the formation of the BCR-ABL fusion gene. The treatment landscape for CML has undergone significant changes with the approval of tyrosine kinase inhibitors (TKIs) targeting the BCR-ABL1 kinase activity. One such inhibitor is bosutinib, which has been available for several years to treat patients with chronic, accelerated, and blast-phase CML who have shown resistance or intolerance to previous therapies. OBJECTIVES: The aim of this study was to assess efficacy and safety of Bosutinib as a 2nd line therapy in CML patients, in addition to effect of adherence to treatment on patients response. PATIENTS AND METHODS: Eighty-five patients with CML were enrolled in a prospective cohort study from October 2021 to October 2022 at Hematology Center in Medical City Complex – Baghdad. All patients failed to at least one TKI, and all of them started escalated dose of bosutinib. The patients were followed-up by assessing molecular and cytogenetic response at 3 and 6 months and monitored carefully for adverse events (AEs) which were graded by common terminology IX criteria for AEs version 5. Adherence to bosutinib was also monitored by a specific adherence scale to optimize the response rate to treatment. RESULTS: The mean age of patients was 47.3 ± 14.9 (range: 18–77), with male:female ratio 1.4:1. Status of CML patients showed that 89.4% were in the chronic phase, 5.8% in accelerated phase, and 4.7% in blast phase. Regarding the number of previous TKIs before bosutinib, 72.9% of patients failed to prior one TKI (imatinib). At 6 months (72.3%), patients achieve optimal response according to European Leukemia Net criteria 2013. Gastrointestinal symptoms and dermatological manifestations were the most common nonhematological AEs of bosutinib. According to 9-item Morisky Medication Adherence Scale, 42% of patients were adherent to medication which showed a significant association with a higher number of optimal response (P = 0.0001). CONCLUSION: Bosutinib is effective with a high and promising response as a subsequent line treatment in CML patients, and it is generally safe and associated with mild-to-moderate tolerable and manageable AEs. Adherence to the drug plays a significant role in optimal response to bosutinib.

Dermatological Manifestations of COVID-19 Patients

Background: COVID-19 is a highly contagious respiratory tract infection caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), was first identified in China, in December 2019. Almost 10% of the patients develop dermatological manifestations before the onset of respiratory illness, with cutaneous signs that can appear from before to several days after the diagnosis of COVID-19. We believe that the dermatologist can play an important role through early recognition of skin lesions suggestive of COVID-19, particularly in asymptomatic infections where this recognition could direct toward an early diagnosis of infection that certainly leads to a better prognosis. Objective: To explore the pattern of dermatological manifestations among COVID-19 Bangladeshi patients. Materials and Methods: A cross sectional study was carried out May 2020 to October 2021 with COVID 19 positive hospital admitted patients. Data were collected through a group of Dermatologists who were serving at COVID dedicated Hospitals. Dermatologists, who were working in different medical college hospital and health complexes, were attached with the study as research associate. Results: Among the muco-cutaneous findings, maculo-papular eruption 52(53.6%) was the most common, followed by chilblain like eruption 40(41.2%), petechiae or purpura 16 (16.5%), urticarial lesions 13(13.4%), vesicular lesion 10(10.3%), Bilateral conjunctivitis with clear/mucoid discharge 10 (10.3%), aphthous stomatitis 13 (13.4%), Alopecia 16(16.5%), Darkening of the face 13 (13.4%), Eczematoid reaction 13 (13.4%), livedo reticularis like eruption 5(5.2%) etc. Conclusion: The major dermatological patterns of COVID-19 can be classified as inflammatory reactions (maculopapular, urticarial and vesicular rashes), or lesions of vascular origin (chilblain like rashes, petechiae/purpura, and livedo reticularis like pattern).

Congenital erythropoietic porphyria.

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non-physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non-immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.

A multinational study to explore the management of dermatological manifestations associated with polycystic ovary syndrome (PCOS) across europe

A multinational study to explore the management of dermatological manifestations associated with polycystic ovary syndrome (PCOS) across europe

Atypical dermatological manifestations in cushing's disease: about a case report

Atypical dermatological manifestations in cushing's disease: about a case report

Brrr - Understanding and Identifying Uremic Frost - An Icy Dermatologic Manifestation at the End of Life

Brrr - Understanding and Identifying Uremic Frost - An Icy Dermatologic Manifestation at the End of Life

Prevalence of Childhood Dermatological and Ocular Morbidities: A Cross-Sectional Study

Abstract Introduction: Screening many children within a certain age group for the presence of illnesses can be efficiently conducted through school surveys. This study aims to analyze the prevalence of dermatological and ocular morbidities in school children. Methods: A school-based cross-sectional observational study was conducted in Government and Private schools of Latur, involving 500 school children aged between 5-14 years. Results: The prevalence of dermatological morbidities in our research was found to be 69%, with boys showing a prevalence of 50.6% and girls 18.4%. Prevalence of ocular morbidities was 7.6%, with boys showing a prevalence of 4.2% and girls 3.4%. Among dermatological manifestations, infections and infestations were the most observed (44%), followed by eczema (dermatitis) (13%). Refractive error was the most common ocular morbidity observed in boys (33.3%), followed by Vitamin A deficiency (28.57%). In girls, refractive error was the most common ocular morbidity (35.29%), followed by Vitamin A deficiency (29.41%). Conclusion: Urgent attention is needed to address these health issues early on to improve children's overall well-being. The findings contribute valuable insights for future research and targeted public health interventions aimed at promoting the health of school children.

A case of Brucellosis with neurological and dermatological findings in a thoroughbred Arabian horse

Brucellosis, a zoonotic infection, exhibits varying prevalence across different geographical regions, with a notable incidence in Mediterranean countries, contributing to considerable economic losses. This study focuses on an 11-year-old purebred male Arabian horse, presenting symptoms including weight loss, weakness, environmental indifference, joint swelling, and diverse dermatological manifestations despite sufficient feed intake. A pivotal clinical observation from anamnesis and examination is the animal's inclination to lean its head against walls or fixed objects. In conjunction with hematological and biochemical analyses, the Brucella Rose Bengal plate test (RBPT) and serum agglutination test (SAT) were conducted, revealing seropositivity for brucellosis in the patient. Consequently, it is imperative for professionals in the equine breeding sector, particularly clinical veterinarians, to adhere to biosafety protocols concerning brucellosis cases exhibiting atypical clinical symptoms in horses. Proper diagnostic methods should be employed to assess suspicious cases, underscoring the significance of safeguarding both public and animal health.

AI Based Tool for Preliminary Diagnosis of Dermatological Manifestations

Abstract: The article suggests combining a cutting-edge deep convolution neural network (DCNN) with a texture map to automatically detect malignant spots and stain the ROI over the course of a single version. A better department dedicated to disease identification and a smaller department for linguistic segmentation and ROI marking make up the two cooperating branches of the anticipated DCNN version. The community version extracts the malignant spots with the help of the better department, and the lower department also gives the disease and heath careareas more accuracy. The community version pulls the textureimages from the input image in orderto form the options insidethe disease areas extra regular. The same old texture image deviation values are then decoded using a window. The best deviation values are then utilized to create a texture map that is divided into multiple patches and used as the computer's input for the deep convolution community version. The strategy proposed in this paper is known as a texture-map- based entirely department-collaborative network

MANAGEMENT OF DADRU KUSHTHA THROUGH AYURVEDA – A CASE REPORT

Skin being the largest and a protective covering of all our internal organs is susceptible to many harmful environmental factors causing different kinds of bacterial, viral and fungal infections. All the skin disease in Ayurveda has been classified into Mahakushtha and Kshudra Kushtha. Dadru is one among them. As per modern perspective “Superficial fungal infection of skin” is the most common dermatological manifestation affecting up to 15% of world‟s population in all age groups. In present time, antifungal treatment is based on systemic and topical medications which may lead to many side effects and relapse too. Fungal infections are more demoralizing to the patients due to their appearance, recurrence, chronicity, and negative psychological impact. Keeping this fact in mind below mentioned study drafted to focuses on Ayurvedic Shamana and Shodhan Chikitsa in Dadru Kushtha. AIM AND OBJECTIVES –To evaluate the effect of Shodhana and Shamana Chikitsa in Dadru Kushtha. MATERIAL AND METHODS- It will be collected from classical Ayurvedic texts as well from previous research works / thesis, Internet sources, research articles and modern sciences text. DISSCUSSION AND CONCLUSIONS- On the basis of signs and symptoms we can correlated the Dadru Kushtha to Tinea Cruris. In This case report, a 67 yr old male patient came with complaints of Dadru Kushtha, which is closely similar to the presentation of Tinea Cruris infection. The present case showed significant improvement with Ayurvedic Shodhan, Shaman and Bahiparimarjan (topical) Chikitsa in Dadru.

The tuberous sclerosis complex: a review of the literature

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, this leads to dysregulation of the mechanistic target of rapamycin (mTOR) pathway resulting in cellular hyperplasia and the formation of benign tumors in various organs, including the brain and skin. Clinical manifestations encompass a wide range of mainly neurological and dermatological symptoms, often presenting during early childhood and posing diagnostic challenges due to phenotypic variability. Recent advancements in diagnostic criteria, genetic testing, and imaging techniques have facilitated earlier diagnosis and increased disease incidence awareness. Neurologically, TSC commonly presents with cortical tubers, subependymal nodules (SENs), and epilepsy, with seizure control being paramount in preventing long-term neurodevelopmental sequelae. Dermatologically, hypomelanotic macules, facial angiofibromas, and ungual fibromas are hallmark features, often causing significant psychological distress due to disfigurement. Management of TSC requires a multidisciplinary approach, with emerging therapies such as mTOR inhibitors showing promise in addressing both neurological and dermatological manifestations. Early intervention, including epilepsy surgery and targeted treatments for skin lesions, is essential for optimizing outcomes and improving the quality of life for patients with TSC. Continued research into novel therapeutic modalities holds potential for further enhancing the management and prognosis of this complex disorder.

Dermatologic manifestations of hematologic disorders.

Distinguishing key morphologic features and understanding the pathophysiology of common cutaneous manifestations of hematologic disorders is essential to ensure prompt and appropriate treatment. In fact, classic cutaneous signs may provide the first clue to the diagnosis of an underlying hematologic disease. Disorders of coagulation, vascular abnormalities, or cutaneous infiltration and deposition are responsible for the underlying pathophysiology of cutaneous manifestations in the majority of cases. Hematologists often feel ill-equipped in identifying morphologic changes in the skin. Thus, the purpose of this review is to provide a comprehensive overview of classic cutaneous manifestations and diagnostic considerations of the associated hematologic conditions. Though there is a specific focus on non-malignant disorders, those straddling the spectrum of malignancy are also discussed. In many disease states, the skin may serve as an important marker of an emerging hematologic disorder, so close collaboration and multidisciplinary input remain essential to provide optimal and timely care for these patients.

P015 Nodular skin rash associated with relapsing polychondritis, a challenging diagnostic journey to VEXAS syndrome

Abstract Background/Aims VEXAS syndrome, first described in 2020, is a haemato-inflammatory disease caused by a mutation in the gene-UBA1.This syndrome can coexist with or without Myelodysplastic syndrome. What makes this case interesting is its long and challenging diagnostic journey and the involvement of different clinical specialties such as dermatology, ophthalmology, rheumatology, respiratory, haematology, and stroke teams. Ultimately, two years after the initial presentation, this appeared to be the first case of VEXAS with confirmed genetic mutation in the region. VEXAS being a relatively new entity, treating clinician/s were not aware of the possibility initially. Therefore, spreading awareness regarding the clinical picture of VEXAS is prudent. This case report highlights rheumatological and dermatological manifestations of the disease to aid in the timely diagnosis and management of future cases. Methods We report a 74-year-old previously healthy male presented in 2021 with a rash on his legs, arms, and torso since October 2019. It was progressive, painful, palpable, erythematous, non-pruritic, intermittent rash, cleared with hyperpigmentation. He also had oligoarticular arthritis, constitutional symptoms, recurrent episodes of polychondritis, uveitis, bibasal lung fibrosis, and an ESR and CRP above 100. He also had lymphadenopathy above the diaphragm, but the biopsy only showed necrotic material, and the bone marrow biopsy did not show any features of haematological malignancy. After excluding infections, he was started on high-dose oral prednisolone for relapsing polychondritis. The skin and inflammatory markers improved immediately following high doses of steroids. However, whenever steroids were weaned down, even with the help of Methotrexate, his skin was flaring. He also had unprovoked DVT and, while on anticoagulation, developed occipital infarction. He had extensive skin involvement when he had to stop Methotrexate following a chest infection. Results The skin biopsy was inconclusive. There was no significant cytopenia but persistent macrocytosis even after stopping Methotrexate. As a result, he underwent a repeat bone marrow biopsy, which showed Vacuoles and gene UBA1 mutation in 2023. Conclusion The heterogeneity and complexity of the disease are due to multi-organ involvement, including skin, joints, eyes, lungs, blood vessels, and cartilage, simultaneously or cumulatively. Skin involvement in VEXAS can also be vast, ranging from neutrophilic dermatosis, erythema nodosum-like lesions, leukocytoclastic, or urticarial vasculitis. Cutaneous manifestations develop in the majority with VEXAS syndrome and can be the first presenting symptom in this new rare syndrome. Disclosure M. Gunawardena: None. L. Yalakki: None. R. Moitra: None. E.L. Williams: None. H. Wong: None. D. D'Cruz: None.