Specific Cutaneous Manifestations Research Articles

Clinical and Trichoscopic Patterns of Discoid Lupus Erythematosus of Scalp in Patients with Systemic Lupus Erythematosus: An Observational Study

Abstract Background: Discoid lupus erythematosus (DLE) is a specific cutaneous manifestation of systemic lupus erythematosus (SLE), which results in scarring alopecia of the scalp. Methods: A prospective cross-sectional observational study on scarring alopecia among SLE patients was done between September 2016 and August 2017. The clinical and trichoscopic patterns of scalp DLE among these patients were studied. The DLE lesions were categorised into active and inactive based on clinical features. Trichoscopy was done and photographs were obtained using a non-polarised videodermoscope. Results: There were 26 patients with scalp DLE, out of which 15 patients (57.69%) had active DLE and 11 (42.30%) had inactive DLE. The trichoscopic findings seen were structureless white areas, loss of follicular units, blue-grey dots and globules, follicular keratotic plugs and telangiectasia. The trichoscopic features seen in active versus inactive DLE were blue-grey dots and globules (93.33% vs 63.63%), structureless white areas (93.33% vs 90.90%), loss of follicular units (86.66% vs 72.72%) and follicular keratotic plugs (80% vs 45.45%), yellow dots with arborising vessels (33.33% vs 72.72%), exaggerated honeycomb pigmentation (46% vs 63.63%) and telangiectasia (66.67% vs 54.54%). Scaling (P = 0.033) and blue-grey dots (P = 0.021) were significantly higher in active and yellow dots with arborising vessels (P = 0.047) in inactive DLE. Conclusions: On comparing trichoscopic features between active and inactive DLE scaling and blue-grey dots were significantly higher in active and yellow dots with arborising vessels in inactive DLE.

Muscle biopsy practices in the evaluation of idiopathic inflammatory myopathies: An international survey of expert clinicians

BackgroundMuscle biopsy is an important test in the evaluation of individuals with suspected myopathy, including those with suspected idiopathic inflammatory myopathy (IIM). Various approaches, including open surgical biopsy, needle biopsy and conchotome forceps, have been reported. However the real-world utilisation of these approaches remains unclear. There are no established guidelines for the use of muscle biopsy, or selection of biopsy technique, in investigating IIM and international practices are not well-documented. This study describes current approaches to muscle biopsy amongst clinicians with expertise in IIM. MethodsA survey regarding muscle biopsy practices was disseminated among members of the International Myositis Assessment and Clinical Studies (IMACS) group. Data were analysed using descriptive statistics. ResultsOne-hundred and sixteen clinicians completed the survey, primarily rheumatologists. Open surgical biopsy was the most commonly employed technique (74.5 %), followed by needle (11.3 %) and conchotome (9.4 %) approaches. Clinical examination was the most common method of muscle selection, with 85.2 % of respondents reporting they ‘always or almost always’ relied on it. MRI and electromyography were also frequently utilised for muscle selection (51.9 %, 45.4 % respectively). There was variability in the perceived utility of muscle biopsy in certain clinical contexts, such as presence of myositis specific antibodies or cutaneous manifestations of dermatomyositis. While respondents generally reported low complication rates following muscle biopsy, non-diagnostic histopathology was commonly reported, regardless of procedural approach. ConclusionClinicians managing IIM report muscle biopsy to be well tolerated however, non-diagnostic results are common. Substantial heterogeneity regarding perceived indications for biopsy, procedural approaches, and muscle selection strategies were observed within this expert group. Future research is needed to establish best practice and determine the role of muscle biopsy in the context of continued advancements in serological profiling of IIM.

Skin Manifestations of VEXAS Syndrome and Associated Genotypes

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined genetic disease with an estimated prevalence of 1 in 4269 men older than 50 years and is marked by systemic inflammation, progressive bone marrow failure, and inflammatory cutaneous manifestations. To define the spectrum of cutaneous manifestations in VEXAS syndrome and the association of these findings with clinical, genetic, and histological features. This observational cohort study included data from 112 patients who were diagnosed with VEXAS-defining genetic variants in UBA1 between 2019 and 2023. Data were collected from medical record review or from patients with VEXAS directly evaluated at the National Institutes of Health in Bethesda, Maryland. To define the spectrum of cutaneous manifestations in VEXAS in association with genetic, histological, and other clinical findings. A secondary outcome was cutaneous response to treatment in VEXAS. Among the 112 patients (median [range] age, 69 [39-79] years; 111 [99%] male), skin involvement was common (93 [83%]), and the most frequent presenting feature of disease (68 [61%]). Of 64 histopathologic reports available from 60 patients, predominant skin histopathologic findings were leukocytoclastic vasculitis (23 [36%]), neutrophilic dermatosis (22 [34%]), and perivascular dermatitis (19 [30%]). Distinct pathogenic genetic variants were associated with specific cutaneous manifestations. The p.Met41Leu variant was most frequently associated with neutrophilic dermal infiltrates (14 of 17 patients [82%]), often resembling histiocytoid Sweet syndrome. In contrast, the p.Met41Val variant was associated with vasculitic lesions (11 of 20 patients [55%]) with a mixed leukocytic infiltrate (17 of 20 patients [85%]). Oral prednisone improved skin manifestations in 67 of 73 patients (92%). Patients with VEXAS treated with anakinra frequently developed severe injection-site reactions (12 of 16 [75%]), including ulceration (2 of 12 [17%]) and abscess formation (1 of 12 [8%]). Results of this cohort study show that skin manifestations are a common and early manifestation of VEXAS syndrome. Genetic evaluation for VEXAS should be considered in older male patients with cutaneous vasculitis, neutrophilic dermatoses, or chondritis. Awareness of VEXAS among dermatologists is critical to facilitate early diagnosis.

Editor’s Pick: Correlation of Cutaneous Manifestations with the Severity of Disease in Patients with Chronic Kidney Disease and Effect of Hemodialysis: An Observational Study

Aim: Chronic kidney disease is a non-communicable disease, and is the sixth fastest growing contributor of morbidity and mortality. Hemodialysis is one of the important therapeutic modalities that can improve survival in these patients, and can increase their life expectancy, but the cutaneous disorder can precede or follow the initiation of hemodialysis. Methods: This is a retrospective, observational study with a sample size of 250 patients, with a glomerular filtration rate <60 mL/min/1.73 m2 for a minimum duration of 3 months or more, undergoing hemodialysis. Patients post-renal transplant, HIV-positive cases, and pregnant patients were excluded from the study. Studied cases were recruited equally into two groups: the dialytic group (Group A) and non-dialytic group (Group B). Results: In the authors’ study, the prevalence of dermatological manifestations was 79% in the dialytic group and 75% in the non-dialytic group. The most common finding overall was xerosis (58%), which was more common in the dialytic (66%) group, both in number of patients and severity. The second most common finding was pallor (55%), which was seen more in the dialytic group (60%). Other major findings were pruritus (49%) and hyperpigmentation (37%). The intensity of pruritus was higher in non-dialytic patients. Specific cutaneous manifestations, such as Kyrle’s disease, were seen only in eight patients. Skin infections were seen in 17% of patients overall, and there was no major difference seen in both groups. The prevalence of nail findings, mucosal changes, and hair changes was also high in the dialytic group. Other specific cutaneous manifestations, like calciphylaxis, uremic frost, and nephrogenic fibrosing dermopathy, were not seen in the authors’ study. Hemodialysis has increased the life expectancy of patients with end-stage renal disease and has also brought about a rise in the number of manifestations, by giving time for these changes to occur. The severity of symptoms was also higher in patients on dialysis. This could be because of the higher mean duration of disease in the dialytic group compared to the non-dialytic group. Conclusion: Dermatological manifestations of chronic kidney disease were significantly associated with the mean duration of disease, which was higher in patients on dialysis. There was a higher prevalence of non-specific dermatological findings, such as xerosis, hyperpigmentation, nail findings, hair, and mucosal changes in the dialytic group, except pruritus. Any such cutaneous marker in the absence of a primary dermatological problem warrants a thorough search, including blood, urine, and radiological investigations, to rule out kidney disease.

Murine models of idiopathic inflammatory myopathies.

Idiopathic inflammatory myopathies (IIMs) are divided into polymyositis and dermatomyositis (DM) with specific cutaneous manifestation. Several myositis-specific autoantibodies (MSAs) have been identified in IIMs and were found to be associated with distinct clinical features, including anti-synthetase syndrome (ASyS) and immune-mediated necrotizing myopathy (IMNM). Moreover, MSA-related clinical features have been identified even within DM. Although MSAs are valuable for the diagnosis of IIMs, the pathogenic roles of these antibodies remain unknown. To investigate the pathogenesis of IIMs, classical murine models of autoimmune myositis, experimental autoimmune myositis, and C protein-induced myositis have been established by immunization with muscle-specific antigens, myosin, and myosin-binding skeletal C protein, respectively. To according to MSA-related autoimmunity, a murine model of ASyS was generated by immunization with a murine recombinant histidyl-transfer RNA (tRNA) synthetase, Jo-1, in which muscle and lung inflammation are induced depending on acquired immunity. Furthermore, it was found that the transfer of human Immunoglobulin G (IgGs) from patients with IMNM, comprising anti-signal recognition particles and anti-3-hydroxy-3-methylglutaryl coenzyme A reductase antibodies, induced complement-mediated myositis in recipient mice. We found that CD8+ T cell-mediated myositis can be established depending on autoimmunity against transcriptional intermediary factor 1γ (TIF1γ), an autoantigen for MSAs induced by recombinant human TIF1γ immunization. These new murine models reflecting MSA-associated IIMs will reveal the immunological mechanisms underlying IIMs.

Cutaneous manifestations associated with COVID-19: summary of current knowledge

Introduction and purpose: Coronavirus disease (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), had been spreading rapidly throughout the world, mainly affecting respiratory system. Except pulmonary symptoms, skin lesions might also occur. The precise percentage of patients with confirmed COVID-19 who presented cutaneous manifestations is still unknown (0.2% - 20.4%). Part of the skin lesions might be drug-induced.
 Brief description of the state of knowledge: Cutaneous manifestations in the course of the coronavirus disease could be divided into six main groups: maculopapular rash, urticarial lesions, chilblain‐like lesions, vesicular eruptions, petechial/purpuric lesions and livedoid lesions. The most common skin lesions are maculopapular eruptions (47%). Trunk is the most affected location, whereas pruritus is the most frequent additional symptom among patients with skin lesions associated with coronavirus disease. These lesions appear mainly in elderly patients except pseudo chilblains which are present among children and young adults with SARS-Cov-2 infection. The majority of cutaneous manifestations occur after COVID-19 systemic symptoms, but the appearance of vesicular lesions before the respiratory signs was also reported. Cutaneous manifestations resolved spontaneously at different times, ranging from a few days to 2-4 weeks. Moreover, patients with severe course of COVID-19 with maculopapular rash have better prognosis (2% mortality rate) in comparison to patients who developed livedoid lesions in course of the coronavirus disease (10% mortality rate).
 Summary: Pseudo-chilblains and vesicular lesions are the most specific cutaneous manifestations of coronavirus disease. Healthcare professionals should pay attention to patients who present skin symptoms in the course of COVID-19. Cutaneous manifestations can facilitate the doctor the diagnosis and even estimate the severity of coronavirus disease.

P92 Cutaneous manifestations of myelodysplastic syndrome: a systematic review

Abstract A variety of associations between cutaneous manifestations and myelodysplastic syndrome (MDS) have been described, but the frequency is unknown. The presence of cutaneous manifestations may have therapeutic and prognostic significance, as the presence thereof has been reported to be associated with poor prognosis or acute myeloid leukaemia (AML) progression, or may precede the diagnosis of MDS [Farah C, Bulai Livideanu C, Jegu J et al. Prevalence and prognostic value of cutaneous manifestations in patients with myelodysplastic syndrome. J Eur Acad Dermatol Venereol 2010; 24:1171–5; Ghoufi L, Ortonne N, Ingen-Housz-Oro S et al. Histiocytoid Sweet syndrome is more frequently associated with myelodysplastic syndromes than the classical neutrophilic variant: a comparative series of 62 patients. Medicine (Baltimore) 2016; 95:e3033]. We aimed to determine the types and prevalence of cutaneous manifestations in MDS, treatment options and prognosis associated with specific cutaneous manifestations and MDS subtypes. PubMed, MEDLINE and Embase were searched from inception up to 26 January 2023 for studies reporting cutaneous manifestations of MDS in adults aged ≥ 18 years, as per the World Health Organization classification. Case reports and case series were included. The review was registered with PROSPERO (CRD42021293140). In total, 92 studies were included (case reports n = 71, case series n = 21), consisting of 140 patients [98 male, mean age 61.0 (SD 15.4)]. We identified six common cutaneous manifestations: neutrophilic, e.g. Sweet syndrome and pyoderma gangrenosum (n = 66); vasculitis, e.g. leucocytoclastic vasculitis and Behçet disease (n = 21); granulomatous, e.g. granuloma annulare and interstitial granulomatous dermatitis (n = 8); connective tissue disease (CTD), e.g. dermatomyositis (n = 7); panniculitis (n = 4); immunobullous (n = 2); and other (n = 30). Sweet syndrome (81.8%) and pyoderma gangrenosum (18.2%) were the commonest presentations of neutrophilic dermatosis. Cutaneous features either occurred at time of MDS diagnosis in 24.7%, preceded the diagnosis in 36.1% (mean 17 months; range 0.5–216), or after diagnosis in 39.2% (mean 20.6 msonths; range 1–132). Prognosis was poor (40.2% death) with 34.1% progressing to acute myeloid leukaemia (AML), 50% of which had neutrophilic dermatosis. Death occurred in 38.5% of neutrophilic dermatoses (median time from onset of cutaneous manifestation: 12 months), 50% of vasculitis (7.5 months), 62.5% of granulomatous (15.5 months), 14.3% of CTD (7 months), and none reported in immunobullous and panniculitis. Granulomatous skin lesions had the poorest prognosis, 60% of which had progressed to AML. This systematic review highlights the range of cutaneous manifestations associated with myelodysplastic syndrome. Of note, we found that the majority of cases progressing to AML were associated with neutrophilic dermatoses overall; however, granulomatous skin lesions had the poorest prognosis with the highest proportion progressing to AML. We speculate that these manifestations may confer an increase in risk of transformation, compared with other cutaneous changes.

Skin gluten-related disorders: new and old cutaneous manifestations to be considered.

The term gluten-related disorders (GRD) refer to a spectrum of different clinical manifestations triggered by the ingestion of gluten in genetically susceptible individuals, including coeliac disease (CD), wheat allergy and non-celiac gluten sensitivity (NCGS). GRD are characterized by a large variety of clinical presentations with both intestinal and extra-intestinal manifestations. The latter may affect almost every organ of the body, including the skin. Besides the well-known association between CD and dermatitis herpetiformis, considered as the cutaneous specific manifestation of CD, many other muco-cutaneous disorders have been associated to GRD. In this review, we analyzed the main features of dermatological diseases with a proven association with GRD and those that improve after a gluten-free diet, focusing on the newly described cutaneous manifestations associated with NCGS. Our main hypothesis is that a "cutaneous-gluten sensitivity," as specific cutaneous manifestation of NCGS, may exist and could represent a diagnostic marker of NCGS.

Do Egyptian children with beta-thalassemia major have specific cutaneous manifestations? A cross-sectional study

Background A wide continuum of cutaneous manifestations might accompany blood diseases and hemoglobinopathies, especially β-thalassemia. In this situation, cutaneous manifestations occur due to both hemoglobin disorder and treatment complications. These manifestations are usually neglected and frequently underdiagnosed among those patients. Aim To study the cutaneous manifestations in Egyptian children with β-thalassemia to minimize its subsequent complications. Furthermore, we aimed to analyze their relations to duration of disease and frequency of blood transfusions and other disease parameters. Patients and methods This was a cross-sectional study that included 158 patients with β-thalassemia major. All patients were subjected to detailed history, clinical examination, and laboratory investigations, namely, serum ferritin and hemoglobin level. All patients were subjected to meticulous dermatological examination by an experienced dermatologist to evaluate cutaneous manifestations. The data were analyzed using Student t test, Mann–Whitney U test, χ 2 test, and Fisher exact test. Results Xerosis was the commonest encountered cutaneous change (present in 61% of patients), followed by hyperhidrosis (30%), hyperpigmentation (28%), pruritus and pityriasis alba (25%), urticaria (22%), and idiopathic guttate hypomelanosis, scars, ephelides, contact dermatitis, discoid eczema, nail disorders, melasma, tinea, alopecia areata, and warts in descending order. Statistically significant relations were present between the presence of some cutaneous manifestations and disease duration. Conclusion Cutaneous manifestations are common among Egyptian children with β-thalassemia major. Both xerosis and hyperhidrosis are the commonest cutaneous signs in those patients. Some of those cutaneous manifestations are correlated with disease duration and frequency of blood transfusions.

Localized Cutaneous Nodular Amyloidosis: A Specific Cutaneous Manifestation of Sjögren's Syndrome.

Primary localized cutaneous nodular amyloidosis (PLCNA) is a rare condition attributed to plasma cell proliferation and the deposition of immunoglobulin light chains in the skin without association with systemic amyloidosis or hematological dyscrasias. It is not uncommon for patients diagnosed with PLCNA to also suffer from other auto-immune connective tissue diseases, with Sjögren's syndrome (SjS) showing the strongest association. This article provides a literature review and descriptive analysis to better understand the unique relationship between these two entities. To date, 34 patients with PLCNA and SjS have been reported in a total of 26 articles. The co-existence of PLCNA and SjS has been reported, especially in female patients in their seventh decade of life with nodular lesions on the trunk and/or lower extremities. Acral and facial localization, which is a typical localization of PLCNA in the absence of SjS, seems to be much more unusual in patients with associated SjS.

Spectrum of Skin Dermatoses among Patients of Substance Use Disorder: A Hospital-based Study

Introduction: Various substances of abuse are known to cause specific cutaneous manifestations. Cutaneous manifestations are associated with the use of cocaine, methamphetamine, heroin, marijuana, alcohol, anabolic steroids, and general signs of drug abuse, including the stigmata of injection drug use, infectious complications, and vascular complications. However, the literature on the same is very limited from the Indian subcontinent. The purpose of the study is to find out various dermatoses in patients of substance use disorder.Materials and Methods: In the present study, 46 Diagnosed cases of substance use disorder as per the Diagnostic and statistical manual of mental disorder-5 (DSM-5)1 and confirmed by a qualified psychiatrist, were taken. The cutaneous examination was performed accordingly. Laboratory investigations were done as per need.Results: Mean age was 42.21 ± 16.64. The majority of the patients were illiterate (41.3%) and 26.1% were either graduate or postgraduate and 21.7% were high school pass and 6.5%were in middle school and the minority had primary school education (4.3%). The majority of the patients had complaints of raised lesions (56.5%) and followed by redness (23.9%), pain (19.6%), burning (13%) and oozing (13%) discomfort and flaking of skin (10.9%), rash (8.7%), light spots (6.5%) and fluid-filled lesions (4.3%).Conclusion: Few substances were associated with specific dermatoses. However, there is very little data, so this study will add upon the minuscule literature on this topic.

Clinical Characteristics, Therapeutics, and Treatment Outcomes of Adult Patients with Anti-Melanoma Differentiation-Associated gene 5 Dermatomyositis: A Single-Center Experience from South India

Introduction: To study the clinical characteristics and treatment outcomes of patients with anti-melanoma differentiation-associated gene 5 (MDA5) dermatomyositis (DM). Methods: This was a retrospective study done between 2019 and 2021 in a tertiary care center in South India. All consecutive patients, presenting to the adult rheumatology department, classified as idiopathic inflammatory myositis (IIM), and positive for anti-MDA5 antibodies, were included in the study. Baseline characteristics of anti-MDA5 patients were compared with the data of non-MDA5 patients over the last 10 years. Clinical, biochemical, and treatment responses were assessed on follow-up. Complete and partial responders were identified using predefined criteria. Factors predicting mortality were determined by logistic regression analysis. Data were analyzed using the Statistical Package for the Social Sciences (SPSS) version 25. Results: A total of 29 adult patients of IIM were positive for anti-MDA5 antibody during the study period. The mean (±standard deviation) age of the patients was 40.3 (±13.02) years with a female:male ratio of 1.4:1. Panniculitis, calcinosis, palmar papules, and ulcerated Gottron’s were the specific cutaneous manifestations, seen in 3 (10%), 7 (24%), 4 (13.4%), and 7 (24%) patients, respectively. A total of 14 patients (48.1%) had clinically amyopathic DM and 17 patients (60.7%) had interstitial lung disease (ILD) diagnosed by high-resolution computerized tomography scan, of which organizing pneumonia was the predominant pattern. Complete response was seen in 10 patients (43.4%), while a partial response was seen in 8 patients (34.7%). Five patients died on follow-up, accounting for mortality of 21%. Age >50 years was significantly associated with mortality (P = 0.025). Gottron’s sign (P < 0.001), panniculitis (P < 0.001), calcinosis (P < 0.001), cutaneous ulcerations (P < 0.001), inflammatory arthritis (P < 0.001), and ILD (P < 0.02) were present more commonly in the anti-MDA5 IIM group, whereas myopathy (P < 0.001), elevated creatine phosphokinase (P < 0.001), and lactate dehydrogenase (P < 0.001) were more frequently present in the non-anti-MDA5 IIM group (n = 421). Conclusions: Anti-MDA5 DM represents a distinct and unique subset of IIM with characteristic clinical manifestations. Elderly age is a poor prognostic factor of mortality.

An Observational Study of Cutaneous Manifestations in Internal Malignancy at Tertiary Care Centre.

Introduction: Skin is the largest organ in the human body and mirrors the changes in the organism it envelops. Internal malignancies can cause various specific and non-specific cutaneous manifestations along with hair, nail and oral mucosal changes. Some of the changes are detected early indicating a strong association with cancer, while some occur in later stage indicating dissemination or immunosuppression. The present study is an effort to know pattern of dermatosis associated with internal malignancies so that early diagnosis and interventions can be done.Aim:To determine the pattern of specific and non-specific dermatosis associated with internal malignancy.Methods and Material:Patients of internal malignancies with skin lesions attending dermatology and oncology department during July 2020 to June 2021 were recruited in the study after taking written informed consent. A detailed history of skin lesions and malignancies were taken. Clinical examination (skin/hair/nail) was carried out and photographs were taken. Relevant investigations were carried out. Frequency and percentage of dermographic data and dermatosis associated with internal malignancies were calculated.Results:The study included 150 patients with maximum number of patients 78 (52%) in 41-60 years of age group with female: male ratio of 1.2:1. Most common internal malignancy was breast carcinoma in 43 (28.67%) cases. Specific dermatosis were seen in 5 (3.33%) cases and non-specific dermatosis in 121 (80.66%) cases. Specific dermatosis were vasculitis, necrolytic migratory erythema, lymphocytoma cutis, growth and cutaneous metastasis with 1 (0.67%) patient each. Most common non-specific dermatosis was herpes zoster in 17 (11.33%) cases.Conclusion:The study was useful in understanding the various specific and non specific dermatosis associated with internal malignancies and thereby helping the physician to manage the conditions.

Etiopathogenesis of dermatitis herpetiformis.

Dermatitis herpetiformis is a rare chronic, autoimmune bullous disease linked to gluten sensitivity with intense pruritus and characteristic skin eruptions. Etiopathogenesis is complex and not fully understood. It is currently considered to be a specific cutaneous manifestation of celiac disease. Genetic, environmental and immunological factors influence both conditions. Exposure to gluten is the starting point of an inflammatory cascade leading to the formation of circulating IgA antibodies against tissue transglutaminase and skin immune IgA deposition followed by skin lesions. Binding of the immune complex deposits of IgA transglutaminases and epidermal antibodies with enzymes in the papillary dermis stimulates complement activation, neutrophil influx, proinflammatory cytokine release and overproduction of matrix metalloproteinases. We have collected current knowledge of the pathogenesis of dermatitis herpetiformis.

RASopathies: Dermatologists' viewpoints.

Ras/mitogen-activated protein kinase pathway dysregulation results in a group of disorders, collectively termed as RASopathies. Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-recognized RASopathies. These are characterized by multi-organ tumours and hamartomas. Some other features in common are facial dysmorphism, skeletal abnormalities, congenital heart disease, neurocognitive abnormalities and risk of various solid-organ and haematological malignancies. Some of the RASopathies are heterogeneous, caused by several gene mutations resulting in variations in phenotypes and severity ranging from mild to fatal. Significant phenotypic overlaps among different disorders, often makes it difficult to pinpoint a clinical diagnosis. Specific cutaneous manifestations are present in some of the RASopathies and are often the earliest clinical signs/symptoms. Hence, dermatologists contribute significantly as primary care physicians by identifying disorder-specific cutaneous lesions. However, diagnostic work-up and management of these disorders are often multidisciplinary. Confirmation of diagnosis is possible only by genetic mapping in each case. Genetic counseling of the patients and the affected families is an important component of the management. The aim of this review is description of cutaneous manifestations of RASopathies in the background of multi-system involvement to enable dermatologists a comprehensive and logical approach to work up and diagnose such patients in the absence of facility for specific molecular testing.

Clinical and therapeutic features of myositis associated with anti-MDA5 antibodies: three new cases

Abstract Purpose To assess clinical features, therapy, and outcome of the myositis associated with anti-MDA5 antibodies, and to propose a successful therapeutic protocol for rapidly progressive interstitial lung disease (RP-ILD) in anti-MDA5 dermatomyositis (DM). Methods A retrospective and descriptive study of three cases of anti-MDA5 associated myositis was conducted in the Department of Internal Medicine in the University Hospital Hedi Chaker, Sfax, Tunisia, between 1996 and 2016. Results From a series of 115 cases of myositis, three cases of anti-MDA5-positive DM were identified. They were three men with a mean age of 63 years. They manifested specific cutaneous manifestations including ulcers and palmar papules, mild muscular involvement, and RP-ILD. The severity of the disease was correlated to the ILD in all patients. Aggressive therapies were tried including high-dose corticoids, cyclophosphamide (CYC) cures, intravenous immunoglobulins, and rituximab (RTX), with a good outcome in the patient who received combined high steroids, CYC, and RTX pulses. The two other patients died because of a rapid worsening of their respiratory condition. Conclusion Anti-MDA positive myositis is characterised by a specific cutaneous phenotype, the discretion of muscular signs, and the correlation with RP-ILD. The poor prognosis of this entity is correlated to the high resistance of pulmonary involvement despite aggressive therapeutics. The combination between high-dose steroids, CYC, and RTX has shown good results in many reports, as well as in one of our patients.

A study on the cutaneous manifestations of patients with internal malignancy attending a cancer center in Kanyakumari District

<p class="abstract"><strong>Background: </strong>Cutaneous metastasis from an internal malignancy is rare and usually occurs at the later stages. Cutaneous changes may also be the presenting feature of some underlying malignancies. To determine the frequency of cutaneous manifestations in cancer patients attending the Cancer centre of Sree Mookambika Institute of Medical Sciences, Kanyakumari.</p><p class="abstract"><strong>Methods:</strong> This was a prospective hospital-based study. 218 patients with malignancies involving various organs, attending the Cancer Centre of Sree Mookambika Institute of Medical Sciences, Kanyakumari, were recorded for a period of 6 months from October 2020 to February 2021. Approval from the Institutional research ethical committee was obtained.</p><p class="abstract"><strong>Results: </strong>In our study, the most common non-specific cutaneous manifestation was generalized pruritis, observed in 17.88% of the patients, followed by acquired ichthyosis in 12.38% of the patients, and herpes zoster in 11.46% of the patients. Specific cutaneous manifestations included cutaneous metastatic infiltrates, observed in 5.04% of the patients.</p><p class="abstract"><strong>Conclusions: </strong>Skin metastases may herald the recurrence of a malignancy after treatment and usually indicate a poor prognosis.</p>

Comorbidity of alopecia areata and celiac disease

The presented article is devoted to the association of celiac disease and alopecia areata. The authors report the clinical significance of specific cutaneous manifestations as diagnostic markers of celiac disease. The article highlights the role of a gluten-free diet in the treatment of alopecia areata and a multidisciplinary approach to patient management.

A study on the cutaneous manifestations of an internal malignancy in a tertiary care center in North India

Introduction: Cutaneous metastases may precede a malignancy and, in other cases, herald the recurrence of a malignancy after surgery. Aim: To determine the significance of cutaneous manifestations in patients with an internal malignancy and to observe the various types of carcinomas in patients attending a dermatology OPD. Methods: This was a prospective hospital-based study undertaken to observe the cutaneous features in a dermatology OPD in patients coming from the oncology department of a medical college. Results: The commonest malignancy in males was a lung carcinoma, observed in 5.50% of the patients, followed by a prostate carcinoma, observed in 4.58% of the patients, an esophagus carcinoma, observed in 4.12% of the patients, and a penis carcinoma, observed in 2.29% of the patients. Specific cutaneous manifestations included cutaneous metastatic infiltrates, observed in 5.04% of the patients, and carcinoma erysipeloides, observed in 1.37% of the patients. Discussion: Skin metastases may herald the recurrence of a malignancy after treatment and usually indicate a poor prognosis.

Specific cutaneous infiltrates in patients with haematological neoplasms: a retrospective study with 49 patients.

Haematological neoplasms account for around 9% of all cancers, and they are recognised as an important cause of skin infiltration. However, studies analysing cutaneous metastasis of haematological neoplasms are scarce. We describe the clinical spectrum and outcomes of specific cutaneous manifestations of leukaemias, lymphomas, multiple myeloma (MM), and blastic plasmacytoid dendritic cell neoplasm (BPDN) and make a review of the literature. Data from 49 patients diagnosed with secondary cutaneous infiltration of systemic haematological neoplasms over the last 10years in a tertiary dermatology centre were retrospectively collected, and clinical-evolutive features were analysed. Most cases were lymphoma (44.9%, n=22), followed by leukaemia cutis (38.8%, n=19), secondary plasmacytoma (10.2%, n=5) and BPDN (6.1%, n=3). Nodules were the predominant type of lesion, and most patients presented with multiple (≥3) lesions. In 51% (n=25) of cases, cutaneous infiltration was detected before the diagnosis of the underlying malignancy. The patients in diverse nosological groups did not differ in terms of survival (P=0.052). We recognise the clinical heterogeneity of specific cutaneous infiltrates. The high proportion of cases in which skin involvement was key to the diagnosis of systemic malignancy emphasises the role of the dermatologist in recognising and correctly managing these patients.