Cutaneous Features Research Articles

Diagnosis and Management of Cutaneous Manifestations of Autoimmune Connective Tissue Diseases.

The cutaneous features of autoimmune connective tissue disease pose a unique challenge to patients and clinicians managing these conditions. In this review, we outline the key elements of diagnosis and treatment of cutaneous lupus erythematosus, dermatomyositis, systemic sclerosis, and morphea. This article also aims to present an update on gold standard as well as new and emerging therapies for these conditions. Overall, dermatologists can play a key role in diagnosing and treating autoimmune connective tissue diseases and this review intends to provide an up-to-date toolkit to guide clinical dermatologists in this endeavor.

Inverse Gottron’s papules

A 40-year-old woman presented with facial edema and painful skin lesions involving the hands. On examination, heliotrope rash [Figure 1a], hyperkeratotic ulcerated papules on the knuckles [Figure 1b] and erythematous, flat-to-raised keratotic lesions involving the palmar aspect of the interphalangeal joints [Figure 1c] were noted. A diagnosis of dermatomyositis (DM) was made with clinical features and raised muscle enzymes.Figure 1: Clinical photograph showing heliotrope with periorbital edema (a) and Gottron’s sign over dorsal aspect of hand (b), flat-to-raised lesions involving palmar aspect of the fingers in a distribution “inverse” of the classic Gottron’s papules/sign (c, black arrow) and fingertip scars suggestive of healed ulcers (c, white arrow)Gottron’s papules are pathognomonic of DM. Inverse Gottron’s sign/papules [Figure 1c], due to vasculopathy are a rare but specific cutaneous finding in DM, usually associated with digital ulceration, interstitial lung disease, and anti-MDA5 autoantibodies.[1-3] Anti-MDA5-positive DM occurs in 7.2% of adults and 9.7% of children, respectively, in the Indian subcontinent. Cutaneous vasculopathic features such as cutaneous ulceration, and periorbital edema as seen in the index may indicate a worse poor prognosis in adults with anti-MDA-5 DM.[4] Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

33655 Noninvasive, in vivo, characterization of cutaneous metastases using a novel multimodal RCM-OCT imaging device: A case-series

Background: Cutaneous metastases are clinically challenging, requiring an invasive biopsy for confirmation. A novel, noninvasive RCM-OCT device, combines the advantage of high-resolution reflectance confocal microscopy (RCM) images and deeper optical coherence tomography (OCT) images can aid in diagnosis. Objective: Characterize cutaneous metastases using RCM-OCT device. Methods: Seven patients with suspicious cutaneous metastases were consented and imaged with RCM-OCT device, an investigational device. Cutaneous metastases features were defined by comparing with their histopathology. Tumor depths were measured on OCT (under #99-099 and 17-078 IRB protocols) and on H&E-images and correlated using Pearson test. 3D-OCT images were reconstructed to enhance tumor visualization. Results: 6/7 lesions were cutaneous metastases, and 1 was vascular ectasia, on histopathology. Cutaneous metastases appeared as grayish-darkish oval to round structures within the dermis on RCM and OCT images. On RCM, individual tumor cells were seen, enabling identification of even small tumor foci; while, on OCT deeper tumors were detected. Inflammatory cells, dilated vessels, and coarse collagen was identified in the dermis. Pearson correlation had an r2 of 0.38 and a significant P value < .004 for depth measurements. Cutaneous metastases could be differentiated from ecstatic vessels on 3D reconstructed OCT image. Limitation: Small sample size and lack of clinical mimickers. Conclusion: RCM-OCT can detect cutaneous metastases and has potential in aiding noninvasive diagnosis and management.

Angiokeratoma corporis diffusum − a rare case report

We report a case of a 22-year-old male patient with angiokeratoma corporis diffusum, which is a cutaneous feature of many lysosomal storage disorders, but we diagnosed it as Fabry disease (FD) as our patient had normal intelligence associated with coarse facies, acroparesthesia, ocular changes like dilated vessels in conjunctiva, and presence of vacuolated endothelial cells in histopathological examination. It is an X-linked inborn error of the glycosphingolipid metabolic pathway that is associated with protean manifestations and is a paradigm of a multi-system condition with symptoms expressing themselves in many organs. We report this rare case mainly to stress the importance of proper clinical evaluation in the diagnosis of FD in today’s era of costly investigations like enzyme assay, which is not feasible in our setting. It also shows the importance of proper dermatological assessment, which has a highly positive predictive value in terms of assessing systemic morbidity in FD.

Imaging More than Skin-Deep: Radiologic and Dermatologic Presentations of Systemic Disorders.

Background: Cutaneous manifestations of systemic diseases are diverse and sometimes precede more serious diseases and symptomatology. Similarly, radiologic imaging plays a key role in early diagnosis and determination of the extent of systemic involvement. Simultaneous awareness of skin and imaging manifestations can help the radiologist to narrow down differential diagnosis even if imaging findings are nonspecific. Aims: To improve diagnostic accuracy and patient care, it is important that clinicians and radiologists be familiar with both cutaneous and radiologic features of various systemic disorders. This article reviews cutaneous manifestations and imaging findings of commonly encountered systemic diseases. Conclusions: Familiarity with the most disease-specific skin lesions help the radiologist pinpoint a specific diagnosis and consequently, in preventing unnecessary invasive workups and contributing to improved patient care.

Management of Anti-melanoma Differentiation-Associated Gene 5 (Anti-MDA5)-Positive Dermatomyositis in an Acute Rehabilitation Center: A Case Report

Dermatomyositis is an immune-mediated myopathy predominantly characterized by skin and musculoskeletal manifestations. Although often described in the context of its pathognomonic cutaneous features, dermatomyositis may have variable presentations depending on the subtype. In this report, we present a case of anti-melanoma differentiation-associated gene 5 (anti-MDA5)-positive dermatomyositis that initially presented with respiratory symptoms. An appropriate diagnosis and comprehensive interdisciplinary rehabilitation led to a significant improvement in functional status and a better overall prognosis for the patient.

Does weight loss lead to improvement of dermatological conditions: what is the evidence?

Obese and overweight individuals may have a wide spectrum of cutaneous features and can have more severe manifestations of multiple dermatological conditions. There have been multiple expert opinions on the role of weight loss, in the improvement of skin conditions. There have been few studies over the past decade evaluating the effects of exercise and other modes of weight reduction on various dermatoses such as psoriasis, acne vulgaris, hidradenitis suppurativa and acanthosis nigricans. In this review, we have attempted to provide a summary of the beneficial effects of weight loss on various dermatological conditions.

Pruritic rash following haploidentical stem cell transplantation.

A woman who had undergone haematopoietic stem cell transplantation presented with cutaneous features suggestive of graft-versus-host disease. Histopathological examination revealed a diffuse dermal infiltration of atypical monomorphic cells with a high proliferative index. Immunohistochemistry revealed positivity for monocytic markers, but negativity for T-cell markers.

External Male Genitalia in Henoch-Schönlein Syndrome: A Systematic Review.

The external genitalia are notoriously implicated in every fifth male with Henoch–Schönlein syndrome. Nonetheless, the underlying conditions are poorly categorized. To characterize the involvement of the external male genitalia in this vasculitis, we performed a systematic review of the literature. For the final analysis, we selected 85 reports published between 1972 and 2022, which reported on 114 Henoch–Schönlein cases (≤ 18 years, N = 104) with a penile (N = 18), a scrotal (N = 77), or both a penile and a scrotal (N = 19) involvement. The genital involvement mostly appeared concurrently with or after the cutaneous features of Henoch–Schönlein syndrome, while it preceded the presentation of Henoch–Schönlein syndrome in 10 cases. Patients with penile involvement (N = 37) presented with swelling (N = 26), erythema (N = 23), and purpuric rash (N = 15). Most patients were otherwise asymptomatic except for transient micturition disorders (N = 2) or priapism (N = 2). Patients with scrotal involvement (N = 96) presented with pain (N = 85), swelling (N = 79), erythema (N = 42), or scrotal purpura (N = 22). The following scrotal structures were often involved: scrotal skin (N = 83), epididymis (N = 49), and testes (N = 39). An ischemic testicular damage was noted in nine patients (four with torsion and five without). The scrotal skin involvement was mostly bilateral, while that of the epididymis and testis were mostly (p < 0.0001) unilateral (with a significant predilection for the left side). In conclusion, this analysis allows for better categorization of the involvement of external male genitalia in Henoch–Schönlein vasculitis. Scrotal involvement can result from skin inflammation, epididymitis, orchitis, or testicular ischemia.

The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition. Furthermore, cutaneous features can be the first and/or only presenting feature in some cases of EDS and thus understanding these signs is vital for diagnosis. This review focuses on particular cutaneous features of each EDS subtype and their clinical importance. Provision of a specific diagnosis is important for management, prognosis and genetic counselling, often for family members beyond the individual.

COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case report

BackgroundAutoimmune disease following COVID-19 has been studied intensely since the beginning of the pandemic. Growing evidence indicates that SARS-CoV-2 infection, by virtue of molecular mimicry can lead to an antigen-mediated cross-reaction promoting the development of a plethora of autoimmune spectrum diseases involving lungs and extrapulmonary tissues alike. In both COVID-19 and autoimmune disease, the immune self-tolerance breaks, leading to an overreaction of the immune system with production of a variety of autoantibodies, sharing similarities in clinical manifestation, laboratory, imaging, and pathology findings. Anti-Melanoma Differentiation-Associated gene 5 dermatomyositis (anti-MDA5 DM) comprises a rare subtype of systemic inflammatory myopathies associated with characteristic cutaneous features and life-threatening rapidly progressive interstitial lung disease (RP-ILD). The production of anti-MDA5 autoantibodies was proposed to be triggered by viral infections.Case presentationA 20-year-old male patient with polyarthritis, fatigue and exertional dyspnea was referred to our department. An elevated anti-MDA5 autoantibody titer, myositis on MRI, ground glass opacifications on lung CT and histological features of Wong-type dermatomyositis were confirmed, suggesting the diagnosis of an anti-MDA5 DM. Amid further diagnostic procedures, a serologic proof of a recent SARS-CoV-2 infection emerged. Subsequently, the patient deteriorated into a fulminant respiratory failure and an urgent lung transplantation was performed, leading to remission ever since (i.e. 12 months as of now).ConclusionsWe report a unique case of a patient with a new-onset anti-MDA5 DM with fulminant ARDS emerging in a post-infectious stage of COVID-19, who underwent a successful lung transplantation and achieved remission. Given the high mortality of anti-MDA5 DM associated RP-ILD, we would like to highlight that the timely recognition of this condition and urgent therapy initiation are of utmost importance.

Pemphigus Herpetiformis with Atypical Features

Pemphigus herpetiformis (PH) is considered as an uncommon and mild variant of pemphigus. Here, we report the case of a 34-year-old woman who presented with intensely pruritic, annular crusted lesions with vesicles arranged in the periphery over the abdomen, back, and scalp. Cutaneous features were consistent with the clinical diagnosis of PH. However, she had certain unusual clinicoimmunopathological features. She also had oral erosions, which is a rare finding in this variant of pemphigus. The results of histopathological examination and enzyme-linked immunosorbent assay were also in line with the diagnosis of pemphigus vulgaris. She responded well to dapsone with significant objective and subjective improvement in 1-week follow-up.

Primary cutaneous melanoma features predict development of in-transit metastases/satellite lesions: Mayo Clinic experience, 2010 to 2014

To the Editor: In-transit metastases (ITM) and satellite lesions (S) are not captured in national registries. We performed a high-powered case-control study of the clinicopathologic characteristics of primary cutaneous melanoma (PCM) to identify microscopic features associated with subsequent development of ITM/S. After reviewing medical records of patients with ITM/S diagnosed from January 1, 2010, through December 31, 2014, at Mayo Clinic, Rochester, we then studied all patients (n = 27) who were at least 18 years old at the time of PCM diagnosis and later developed ITM/S without synchronous stage IV disease.

Automatic skin lesion classification using a new densely connected convolutional network with an SF module.

The automatic classification of skin lesions in dermoscopy images remains challenging due to the morphological diversity of skin lesions, the existence of intrinsic cutaneous features and artefacts, the lack of training data, and the insufficient recognition abilities of current methods. To meet these challenges, we construct a new densely connected convolutional network termed DenseSFNet-45, which is obtained by integrating our proposed novel architectural unit (an SE-Fire (SF) block) into the dense block of a dense convolutional network (DenseNet). The SF block consists of a cascade of a Fire module and a squeeze-and-excitation (SE) block, enhancing the representational power of DenseNet by exploiting both spatial and channel-wise information. Based on DenseSFNet, we propose a novel two-stage framework consisting of skin lesion segmentation followed by lesion classification to accurately classify skin lesions. The classification step is performed on the segmented lesion rather than the whole dermoscopy image, enabling the classification network to extract more specific and discriminative features. The proposed method is extensively evaluated on three public databases: ISBI 2017 Skin Lesion Analysis Towards Melanoma Detection Challenge dataset (ISBI-skin-2017), ISBI 2018 Skin Lesion Analysis Towards Melanoma Detection Challenge dataset (ISBI-skin-2018), and PH2 dataset. The experimental results demonstrate the superior performance of our method relative to that of the traditional machine learning algorithms, the existing classical classification models, baselines, and state-of-the-art methods.

Alagille syndrome: A rare cause for xanthomatosis

Alagille syndrome (ALGS) is a rare, autosomal dominant disorder characterized by typical facial features, cholestatic jaundice, and renal, cardiac, eye, and vertebral anomalies. Cholestasis can lead to multiple xanthomas in childhood. We report this case to emphasize the cutaneous features and the lipid abnormalities associated with ALGS. We highlight the importance of a detailed evaluation in patients with multiple xanthomas, especially children, as it may reveal an underlying serious systemic involvement.

Intracerebral hemorrhage as a rare manifestation in a patient with neurofibromatosis-1 and quasi-Moyamoya disease

Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, the disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, and learning disabilities, and others. While optic glioma is the most common CNS complication, vasculopathy and cerebrovascular anomalies have also been rarely reported. Specifically, intracerebral hemorrhage with vascular stenosis in NF-1 is an extremely rare manifestation. Herein, we report a patient with NF-1 presenting with stroke secondary to intracranial hemorrhage and underlying quasi-Moyamoya disease. Since the cutaneous features of NF-1 appear early in life and are striking, dermatologists might be the first contact for such patients with the medical system, and consequently play an important role in the diagnosis, evaluation, and prevention of complications.

Spinulosis revealing dermatomyositis relapse: A new description of Wong’s dermatomyositis

Sir, Dermatomyositis (DM) is a systemic autoimmune disease affecting characteristically the skin and muscles. The typical cutaneous features include Gottron’s papules, a heliotrope rash, and edema of the eyelids. Spinulosis is an unusual sign, not raising suspicion for a DM diagnosis. Herein, we report a case of DM relapsing as Wong’s dermatomyositis (WDM) as an isolated spinulosic eruption. A 42-year-old female presented with a pruritic papular eruption involving both arms and the back persistent for the last two months. An anamnesis included a history of DM diagnosed five years earlier, in complete remission under the administration of corticosteroids for three years. A physical examination revealed erythematous and violaceous scaly plaques resulting from confluent follicular papules, resembling pityriasis rubra pilaris (PRP) on the lateral sides of the arms (Fig. 1) and the upper back (Fig. 2). Muscular testing was subnormal and the general status was conserved. Laboratory findings revealed a high level of blood CPK (3×N), LDH (4×N), and ASAT (3.5×N), while electromyography displayed myogenic changes. A muscular biopsy revealed necrotic muscular cells with perifascicular atrophy and lymphocytic inflammatory infiltrate. A histological skin examination found follicular hyperkeratosis with perifollicular interface dermatitis and interstitial mucin deposits in the dermis (Fig. 3). Based on these findings, the diagnosis of WDM was retained. A malignancy workup was negative. Corticosteroid therapy was initiated with prednisone 1 mg/kg/day in combination with hydroxychloroquine 200 mg twice a day, resulting in a remarkable clinical and biological improvement.WDM is characterized by the presence of PRP-like follicular papules in a patient with dermatomyositis (DM) [1]. Some authors suggest that this exceptional presentation should be considered a true association of DM with PRP rather than a variant of DM [2]. In this rare form, spinulosic lesions are mainly located on the trunk or limbs with occasional palmoplantar keratoderma [2]. Follicular lesions are usually associated with the typical signs of DM but some cases of isolated PRP features related to WDM have been reported [3]. To our knowledge, none has been reported as a relapse of a previous classic DM. Our patient relapsed showing spinulosic lesions absent in the prior episode five years earlier, not displaying at this time any classic cutaneous signs of DM. Such puzzling presentations are very unusual and may be confusing for physicians. In our patient, the diagnosis was retained on the basis of the histopathological findings of interface dermatitis and interstitial mucin deposits in the dermis, increased serum levels of muscle enzymes with a myogenic electromyographic pattern, the typical muscular histological changes, and a medical history of DM diagnosed five years earlier. In WDM, histology usually reveals follicular hyperkeratosis with keratotic plugs filling dilated follicular infundibula, which may raise several differential diagnoses, including PRP, discoid lupus erythematosus (DLE), and, to a lesser degree, follicular psoriasis and keratosis pilaris [4]. Interface dermatitis and mucin deposits, as in our patient, are the hallmarks of distinguishing DM from PRP, follicular psoriasis, and keratosis pilaris. Although these findings may also be observed in DLE [4], in our patient, there were no clinical or histological arguments supporting DLE rather than a diagnosis of DM. Myositis as, well as interstitial lung disease, appears to be comparable to the classic variant [5]. The risk of associated internal malignancy is unknown but could be lower than in the classic form [4]. Treatment and management do not differ from classic dermatomyositis.

Cutaneous Manifestations of Covid-19 in Nepal: A Series of Case Reports

Coronavirus Disease 2019 (COVID-19) is an illness caused by SARS-CoV-2. Case series of large population on cutaneous manifestations of COVID-19 are yet to be reported from Nepal. Among the cases in our study, onset of urticarial rash prior to onset of fever and systemic symptoms can be very important in preventing the chain of transmission of COVID-19 infection. Knowledge among medical practitioners of varied cutaneous features of COVID-19 can lead to testing COVID-19 in these cases and an early diagnosis.

Panniculitis in dermatomyositis: Two cases with antitranscriptional intermediary factor‐1 antibody as myositis‐specific antibody and review of the literature

AbstractDermatomyositis (DM) is a systemic disease characterized by chronic inflammation in the skin and muscle. A variety of myositis‐specific autoantibodies (MSAs) are detected in patients with DM. These antibodies are associated with unique clinical subsets in DM. Panniculitis is a rare cutaneous manifestation of DM that most commonly presents as tender, erythematous subcutaneous nodules on the thighs, arms, and buttocks. We herein describe the clinical features of two DM‐associated panniculitis patients with anti‐TIF1 antibodies. Both are female patients and showed characteristic cutaneous features, including heliotrope rashes and Gottron's signs with muscle involvement. While one patient had a posterior mediastinum tumor, another had no cancer. Furthermore, to elucidate the clinical significance of anti‐TIF1 antibodies in DM patients with panniculitis, we analyzed all cases with detailed information on the clinical features, including MSAs. A PubMed search of keywords “panniculitis” and “DM” was conducted. We found 23 cases with the detection of MSAs. A review of these cases and our two cases revealed a predominance of female gender (80%) with a median age of 48 years. Anti‐MDA5 antibodies were detected in 11 patients (11/23, 48%), and anti‐TIF1 antibodies were observed in four patients, including the current cases (4/23, 17%). Anti‐Mi‐2 antibodies were observed in four patients (4/23, 17%). Each patient had anti‐NXP‐2 antibodies or anti‐SAE antibodies (2/23; 9%). Although the pathogenesis of panniculitis in DM remains unknown, differences in pathogenesis of DM‐associated panniculitis according to MSAs may exist. Accumulation of additional cases is required to clarify the relationship between panniculitis and MSAs.

Myositis-specific Antibodies: Overview and Clinical Utilization.

Purpose of review-To review autoantibodies associated with different subtypes of idiopathic inflammatory myopathy (IIM) and their clinical applications. IIM are a heterogenous group of autoimmune disorders characterized by muscle weakness, cutaneous features, and internal organ involvement. The diagnosis and classification, which is often challenging, is made using a combination of clinical features, muscle enzyme levels, imaging, and biopsy. The landmark discoveries of novel autoantibodies specific to IIM subtypes have been one of the greatest advancements in the field of myositis. The specificity of these autoantibodies has simplified the diagnostic algorithm of IIM with their heterogenous presentation and outdated the earlier diagnostic criteria. Myositis-specific antibodies (MSAs) have improved diagnostics, clinical phenotyping, and prognostic stratification of the subtypes of IIMs. Furthermore, the levels of certain MSAs correlate with disease activity and muscle enzyme levels such that titers may be able to be used to predict disease course and treatment response.