Search

Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory disorder, most often characterized by atrophic skin plaques located on female genitalia. Infrequently, LSA may present extragenitally; however, much is unknown about the temporal relationship between genital and extragenital LSA. Morphea, also known as localized scleroderma, is a rare inflammatory skin condition characterized by sclerotic plaques. Investigators debate whether LSA and morphea exist on the same spectrum of disease, with LSA representing a superficial variant of morphea involving genitalia, or if they are distinct but coincidental entities. Although researchers have described LSA and morphea occurring in different locations on the same patient, few reports describe LSA and morphea occurring in the same lesion and in the inguinal folds. Herein, we report a case of a 62-year-old woman with extragenital LSA-morphea overlap in the inguinal folds, who three months later developed genital LSA. Extragenital LSA-morphea in the same plaque, with no signs of genital lesions on initial exam, with later development of genital LSA, is especially uncommon. The temporal progression of extragenital LSA-morphea overlap to genital LSA over a three-month period is an important contribution to the literature, as the temporal relationship between extragenital and genital LSA is not previously discussed.

Radiation-induced morphea (RIM) is a rare complication of radiotherapy presenting as inflammatory fibrosis, most commonly reported in breast cancer patients. As underlying disease mechanisms are not well understood, targeted therapies are lacking. Since fibroblasts are the key mediators of all fibroproliferative diseases, this study aimed to characterize patient-derived fibroblasts to identify therapeutic targets. We studied primary human control and RIM-fibroblasts on a functional and molecular basis, analyzed peripheral blood and tissue samples and conducted, based on our findings, a treatment attempt in one patient. In RIM, we identified a distinct myofibroblast phenotype reflected by increased alpha-smooth-muscle-actin (αSMA) expression, reduced proliferation and migration rates, and overexpression of osteopontin (OPN). Our RNA sequencing identified aberrant Myc activation as a potential disease driver in RIM fibroblasts, similar to previous findings in systemic sclerosis. Treatment with the anti-inflammatory drug mesalazine reversed the myofibroblast phenotype by targeting Myc. Based on these findings, a patient with RIM was successfully treated with mesalazine, resulting in reduced inflammation and pain and tissue softening, while serum OPN was halved. The present study provides a comprehensive characterization of RIM fibroblasts, suggests a disease-driving role for Myc, demonstrates promising antifibrotic effects of mesalazine and proposes OPN as a biomarker for RIM. [ABSTRACT FROM AUTHOR]

Localized scleroderma (LS) is an autoimmune disease characterized by inflammation and fibrosis, leading to severe cutaneous manifestations such as skin hardening, tightness, discoloration, and other textural changes that may result in disability. While LS shares similar histopathologic features and immune-fibroblast interactions with systemic sclerosis (SSc), its molecular mechanisms remain understudied. Endothelial cells (EC) are known to play a crucial role in SSc but have not been investigated in LS. Single-cell RNA sequencing (scRNA-seq) now allows for detailed examination of this cell type in the primary organ of interest for scleroderma, the skin. In this study, we analyzed skin-isolated cells from 27 LS patients (pediatric and adult) and 17 healthy controls using scRNA-seq. Given the known role of EC damage as an initial event in SSc and the histologic and clinical skin similarities to LS, we focused primarily on endothelial cells. Our analysis identified eight endothelial subclusters within the dataset, encompassing both disease and healthy samples. Interaction analysis revealed that signaling from diseased endothelial cells was predicted to promote fibrosis through SELE interaction with FGFBP1 and other target genes. We also observed high levels of JAG in arterial endothelial cells and NOTCH in capillary endothelial cells, indicating the activation of a signaling pathway potentially responsible for epidermal abnormalities and contributing to LS pathogenesis. In summary, our scRNA-seq analysis identified potential disease-propagating endothelial cell clusters with upregulated pathways in LS skin, highlighting their importance in disease progression. [ABSTRACT FROM AUTHOR]

The association between systemic scleroderma and malignancy is well-documented, but there is limited data on the relationship between morphea and malignancy. This study aims to assess the incidence and types of malignancies in morphea patients, comparing demographics, clinical characteristics, treatments, and outcomes between those with and without malignancy. We conducted a retrospective study of 204 morphea patients treated at Rabin Medical Center between 2012 and 2023. Data on demographics, clinical subtypes, comorbidities, treatments, and outcomes were collected. Patients were categorized based on malignancy status and the timing of malignancy relative to their morphea diagnosis. Among the 204 patients (154 women and 50 men, mean age 53.7 ± 20 years), 47 (23%) developed malignancies. In 29 patients (61.7%), malignancy occurred before the onset of morphea; in 23 patients (48.9%), it occurred after morphea. Five patients (10.6%) had malignancies both before and after the diagnosis of morphea. Patients with malignancy were significantly older than those without (64.7 ± 15.1 years vs. 50.3 ± 20 years, p < 0.0001). The all-cause mortality rate was higher in the malignancy group compared to those without malignancy (23.4% vs. 3.8%, p = 0.00002). Moreover, mortality was higher in patients whose malignancy occurred after morphea than in those whose malignancy preceded morphea (26% vs. 17.2%). The most common post-morphea malignancies in our cohort included non-melanoma skin cancer, cervical cancer, breast cancer, stomach cancer, and lung cancer. The most common pre-morphea malignancies included breast cancer, non-melanoma skin cancer, colon cancer, prostate cancer, and testicular cancer. This study suggests potential associations between morphea and malignancies, influenced by patient age, sequence of diagnosis, and treatment regimens. Further control studies are needed to explore these relationships more definitively. [ABSTRACT FROM AUTHOR]

Abstract Radiation-induced morphea (RIM) is a rare complication of radiotherapy presenting as inflammatory fibrosis, most commonly reported in breast cancer patients. As underlying disease mechanisms are not well understood, targeted therapies are lacking. Since fibroblasts are the key mediators of all fibroproliferative diseases, this study aimed to characterize patient-derived fibroblasts to identify therapeutic targets. We studied primary human control and RIM-fibroblasts on a functional and molecular basis, analyzed peripheral blood and tissue samples and conducted, based on our findings, a treatment attempt in one patient. In RIM, we identified a distinct myofibroblast phenotype reflected by increased alpha-smooth-muscle-actin (αSMA) expression, reduced proliferation and migration rates, and overexpression of osteopontin (OPN). Our RNA sequencing identified aberrant Myc activation as a potential disease driver in RIM fibroblasts, similar to previous findings in systemic sclerosis. Treatment with the anti-inflammatory drug mesalazine reversed the myofibroblast phenotype by targeting Myc. Based on these findings, a patient with RIM was successfully treated with mesalazine, resulting in reduced inflammation and pain and tissue softening, while serum OPN was halved. The present study provides a comprehensive characterization of RIM fibroblasts, suggests a disease-driving role for Myc, demonstrates promising antifibrotic effects of mesalazine and proposes OPN as a biomarker for RIM.

Background: Linear scleroderma (LS) is a variant of localized scleroderma, which is termed as “en coup de sabre” (ECDS) when it involves the head and/or face. Although mainly a dermatological condition, extracutaneous manifestations have been infrequently reported. Clinical Description: A 13-year-old boy presented with fever, altered sensorium with seizures, right hemiparesis, and right-sided upper motor neuron type of facial palsy. He was noticed to have a depression in the left frontoparietal area of the scalp with skin changes. Management and Outcome: The child was initially managed along the lines of acute encephalitis supported with mechanical ventilation. Brain imaging revealed tiny calcification in the left temporal and parietal lobes with altered signal intensities ipsilateral to the scalp lesion. Suspecting an association with the overlying scalp skin lesion, biopsy of the skin lesion was done which confirmed LS. The erythrocyte sedimentation rate was elevated and the antinuclear antibody was positive. The child was started on pulse methylprednisolone following which encephalopathy improved facilitating extubation. Later, he was started on subcutaneous methotrexate and he improved on follow-up. Conclusion: This case creates awareness regarding the association between neurological manifestations and LS EDCS, which responds favorably to immunosuppressives and methotrexate.

Abstract Background Current treatment for localized scleroderma (LS) has been shown to halt disease activity, but little is still known about patient experiences with these treatments, nor is there consensus about optimal measurement strategies for future clinical trials. Objective Conduct a scoping review of the literature for the types of outcomes and measures (i.e. clinician-, patient-, and caregiver-reported) utilized in published treatment studies of LS. Methods Online databases were searched for articles related to the evaluation of treatment efficacy in LS with a special focus on pediatrics. Results Of the 168 studies, the most common outcomes used were cutaneous disease activity and damage measured via clinician-reported assessments. The most frequently cited measure was the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT). Few patient-reported outcome measures (PROMs) were used. Limitations Some studies only vaguely reported the measures utilized, and the review yielded a low number of clinical trials. Conclusion In addition to evaluating disease activity with clinician-reported measures, the field could obtain critical knowledge on the patient experience by including high-quality PROMs of symptoms and functioning. More clinical trials using a variety of outcomes and measures are necessary to determine the most suitable course of treatment for LS patients.

Khalid M Al-Husain,1 Abdulaziz Madani,2 Ahmed Alhumidi,3 Turky Alsehli,2 Khalid Nabil Nagshabandi2 1Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia; 2Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; 3Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi ArabiaCorrespondence: Khalid Nabil Nagshabandi, Email khalidnagshabandi@gmail.comIntroduction: Lichen sclerosus is a chronic inflammatory dermatological condition of unknown etiology, primarily impacting the genital epidermis in individuals of all genders, with a higher prevalence observed among postmenopausal women and prepubescent girls. Additionally, extragenital manifestations occur in approximately 20% of the patients diagnosed with genital lichen sclerosus. Notably, folliculocentric extragenital lichen sclerosus is rare and unusual, with only limited instances documented in existing literature.Case Description: We report a 33 years old lady presented with multiple asymptomatic lesions on the dorsal feet for 1 year and similar lesions on the left hand for 4 months. On examination: folliculocentric, shiny, atrophic papules coalescing into reticulated plaques over the dorsum of both feet and few shiny, flat-topped, pink papules over the dorsum of the left hand. A skin biopsy was performed and confirmed the diagnosis of extragenital lichen sclerosus.Conclusion: Acral folliculocentric extragenital lichen sclerosus is an unusual and rare clinical variant. Clinicopathologic correlation is necessary to establish the correct diagnosis.Contribution to the Literature: Herein, we present an unusual presentation of extragenital lichen sclerosus, and we highlight the importance of considering it in the differential diagnosis of guttate acral skin lesions. We also review and summarize relevant cases from the literature in hope to aid physicians, especially dermatologists, to consider and swiftly reach the diagnosis and offer appropriate management. We also hope to bring about new insights and broaden future research efforts regarding lichen sclerosus especially and atrophic skin disease in general.Keywords: lichen sclerosus et atrophicus, lichen sclerosus, morphea, anetoderma

We investigated the ability of a panel of immune-related cytokines and chemokines to predict the disease activity state in localized scleroderma (LS) subjects followed longitudinally. A total of 194 sera samples were obtained from 45 LS subjects with diverse types of LS (40% linear, 20% mixed, 16% craniofacial, 13% generalized, and 11% circumscribed) in our cohort. Cytokines/chemokines that were significantly elevated at the baseline active disease visit compared to the inactive disease state at follow-up were Interferon-Gamma-Inducible Protein (IP)-10 (p < 0.021) and Tumor Necrosis Factor (TNF)-α (p < 0.033). Mixed effect logit modeling identified IP-10 (Odds Ratio (OR) [95% confidence interval] = 2.1 [1.4, 3.2], p < 0.001), TNF-α (OR = 1.8 [1.1, 3.0], p = 0.016), and Monocyte Chemoattractant Protein (MCP)-1 (OR = 2.0 [1.1, 3.9], p = 0.034) as significant predictors of active disease status. These findings support earlier correlations between IP-10 and TNF-α with disease activity parameters in a cross-sectional Luminex™ serological study and may enhance clinical decision-making when disease activity is challenging to assess by clinical examination alone. [ABSTRACT FROM AUTHOR]

Juvenile localized and systemic scleroderma are rare autoimmune diseases which cause significant disability and morbidity in children. The mechanisms driving juvenile scleroderma remain unclear, necessitating further cellular and molecular level studies. The Visium CytAssist spatial transcriptomics (ST) platform, which preserves the spatial location of cells and simultaneously sequences the whole transcriptome, was employed to profile the histopathological slides from skin lesions of juvenile scleroderma patients. (1) Spatial domains were identified from ST data and exhibited strong concordance with the pathologist's annotations of anatomical structures. (2) The integration of paired ST data and single-cell RNA sequencing (scRNA-seq) from the same patients validated the comparable accuracy of the two platforms and facilitated the estimation of cell type composition in ST data. (3) The pathologist-annotated immune infiltrates, such as perivascular immune infiltrates, were clearly delineated by the ST analysis, underscoring the biological relevance of the findings. This is the first study utilizing spatial transcriptomics to investigate skin lesions in juvenile scleroderma patients. The validity of the ST data was corroborated by gene expression analyses and the pathologist's assessments. Integration with scRNA-seq data facilitated the cell type-level analysis and validation. Analyses of immune infiltrates through combined ST data and pathological review enhances our understanding of the pathogenesis of juvenile scleroderma. [ABSTRACT FROM AUTHOR]

Background: Current treatment for localized scleroderma (LS) has been shown to halt disease activity, but little is still known about patient experiences with these treatments, nor is there consensus about optimal measurement strategies for future clinical trials. Objective: Conduct a scoping review of the literature for the types of outcomes and measures (i.e. clinician-, patient-, and caregiver-reported) utilized in published treatment studies of LS. Methods: Online databases were searched for articles related to the evaluation of treatment efficacy in LS with a special focus on pediatrics. Results: Of the 168 studies, the most common outcomes used were cutaneous disease activity and damage measured via clinician-reported assessments. The most frequently cited measure was the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT). Few patient-reported outcome measures (PROMs) were used. Limitations: Some studies only vaguely reported the measures utilized, and the review yielded a low number of clinical trials. Conclusion: In addition to evaluating disease activity with clinician-reported measures, the field could obtain critical knowledge on the patient experience by including high-quality PROMs of symptoms and functioning. More clinical trials using a variety of outcomes and measures are necessary to determine the most suitable course of treatment for LS patients. Capsule summary: Existing treatments for localized scleroderma halt disease activity but little is known about patient experiences with these treatments. Clinician-reported measures are over represented in published trials. Better integration of patient-reported measures, alongside clinical outcomes, would more completely evaluate treatment efficacy in future trials by incorporating the patient perspective. [ABSTRACT FROM AUTHOR]

Systemic sclerosis is a systemic connective tissue disease whose main pathophysiological mechanism is a progressive fibrosis of internal organs and skin leading to thickening and induration. Blood vessels may also be involved. However, systemic scleroderma is not the only disease causing cutaneous sclerosis. There is a group of diseases that mimic scleroderma in their clinical presentation - these are scleroderma-like syndromes. A distinction can be made between syndromes of inflammatory/autoimmune, genetic, metabolic, toxic, drug-induced, occupational, paraneoplastic and syndromes caused by deposition disorders. In the following paper, we have reviewed the literature on scleroderma-like syndromes. We have outlined the factors predisposing to the development of each disease, its pathogenesis, clinical presentation, diagnostic and treatment process and the differences between each syndrome and systemic scleroderma. [ABSTRACT FROM AUTHOR]

Localized scleroderma (LS), commonly known as morphea, presents a significant clinical challenge due to its chronic, inflammatory nature affecting the skin and potentially underlying tissues. This systematic review explores the innovative approach of combining laser therapy and injectable fillers, specifically hyaluronic acid, for the treatment of LS. We conducted a comprehensive literature review following PRISMA guidelines, examining articles from MEDLINE/PubMed to assess the combined efficacy of these treatments in improving both esthetic and functional outcomes for LS patients. The search yielded 64 articles, with six selected for in-depth analysis for a total of nine patients, covering a range of patient demographics and treatment types. Our review highlights cases where fractional CO2 laser therapy promoted long-term tissue remodeling and instances where hyaluronic acid fillers effectively addressed skin atrophy and volume loss, enhancing both immediate and long-lasting esthetic improvements. The synergy between these treatments suggests a promising dual approach, aiming to maximize esthetic outcomes and to improve the quality of life for LS patients. This review underscores the necessity of further research to establish a comprehensive, evidence-based clinical pathway integrating both treatments for managing LS, thereby enhancing patient satisfaction and addressing the multifaceted nature of this challenging dermatological condition. [ABSTRACT FROM AUTHOR]

Morphea is a rare autoimmune disease that often affects skin and subcutaneous tissues. The aim of this study was to determine the association between patient demographic parameters, lesion site, clinical subtype of morphea, and histological findings. Between 2016 and 2022, we investigated 78 patients with morphea at the Department of Pathology, Prof. Dr. Cemil Taşcıoğlu City Hospital in Turkey. Case-specific hematoxylin and eosin stain slides were obtained from the pathology archive and assessed blindly by two pathologists. Flattening of rete ridges, location of inflammatory infiltrate, grade of inflammatory infiltrate, presence of plasma cells, presence of eosinophils, homogenization of dermal collagen, decrease of skin appendages, basal pigmentation and melanin incontinence were evaluated. Statistical analyses were performed using SPSS Statistics v.20 (IBM, Armonk, NY, USA). The most common clinical presentation was plaque type (87.5%), while histopathological findings included homogenization of dermal collagen (100%) and decrease of skin appendages (98.7%). Flattening of the rete ridges was observed in 46.2% of patients. Severity of the inflammatory infiltrate was found to be higher in these patients (p=0.028). Basal pigmentation was observed in 59% of patients. Line sign was more common in lower extremity lesions among all localizations (p=0.015). The histopathologic features of morphea are variable and confusing. Particularly, in cases with collagen homogenization, morphea should be considered in differential diagnosis with clinical correlation. In addition, the line sign could be helpful for identifying lesions located in the lower extremities. [ABSTRACT FROM AUTHOR]

Introduction: Morphea, an autoimmune progressive disorder, can significantly impact patient well‑being, yet therapeutic options, though expanding, exhibit limited efficacy. A persistent challenge in disease management revolves around monitoring disease activity and gauging treatment effectiveness. To address this, various clinical assessment tools have been devised, each with its inherent limitations. The realm of imaging in morphea has undergone noteworthy expansion, with ultrasonography (US) emerging as an efficacious and cost‑effective avenue for quantifying disease activity and evaluating therapeutic outcomes. However, the evidential support for its application remains equivocal. Our aim was to explore and analyze the existing evidence concerning the utility of ultrasound in the management of morphea. Materials and Methods: We conducted a comprehensive literature review using PubMed Medline to assess evidence concerning US utility in morphea management. Results: Sixteen total studies were included in our review. Discussion: Although the studies presented carry their own limitations, cumulative findings indicate the potential of ultrasound, particularly when coupled with Doppler, in facilitating staging, assessing disease activity, and longitudinal assessment of therapeutic efficacy in patients with morphea. [ABSTRACT FROM AUTHOR]

Background: To date, there are no accepted outcome measures to monitor morphea, and consensus on specific monitoring criteria for morphea remains elusive. A few studies have assessed the criterion validity of skin ultrasound in morphea. So, in this study, we approach ultrasound findings in morphea lesions. Material and methods: This was a retrospective‐analytical study conducted between December 2021 and May 2023. Patients were clinically evaluated at a dermatology outpatient clinic and then referred for high‐frequency ultrasound (HF‐US) evaluation and were selected to be included in this study. The lesions were confirmed by histopathology as well. Sonographic evaluations were performed on the lesion site and the symmetrical uninvolved other side. Dermal thickness and dermal echogenicities were recorded. Statistical analysis of group differences was performed by using the 2‐tailed Student t‐test. A p‐value of less than 0.05 was considered statistically significant. Results: Forty‐one morphea lesions in the inflammatory phase of 27 patients were included in the study. The mean dermal thickness of morphea lesions was 1107.97 ± 414.3 and the mean dermal thickness of the control side was 1094.65 ± 331.06, The difference between these two variables was not statistically significant. The mean dermal density of lesions was 49.13 ± 18.97 and the mean dermal density of the control side was 52.22 ± 25.33. The difference between these two variables was not statistically significant. Conclusion: This study shows that HF‐US indicated increasing dermal thickness and reducing the dermal density of the morphea lesions in the inflammatory phase confirmed with the histopathology. [ABSTRACT FROM AUTHOR]

Parry Romberg Syndrome (PRS) and en coup de sabre (ECDS) are head variants of linear morphea with functional and structural implications. This study describes the clinical course, autoimmune co-morbidities, complications, and treatment of adults with PRS/ECDS at a tertiary referral center. We retrospectively reviewed the records of all 34 adult patients with PRS/ECDS identified through billing code search and seen by dermatologists at our institution between 2015 and 2021. Eight patients (23.5%) had ECDS, 8 (23.5%) had PRS, and 18 (52.9%) had overlap. Twenty-six patients (76.5%) reported ocular, oral, and/or neurologic symptoms, and 8 (23.5%) had concomitant autoimmune/inflammatory conditions. Sixteen patients (47.1%) had a skin biopsy, and 25 (73.5%) had imaging. Forty-six MRIs were obtained, of which 6 (13.0%) reported intracranial findings and 25 (54.3%) reported disease-related connective tissue damage. Twenty-four patients (70.6%) underwent systemic treatment during their disease course per available clinical records. Seventeen patients (70.8%) had improved or stable disease upon treatment completion, with an average duration of 22.2 months. Ten patients (41.7%) reported recurrence of disease following the treatment course. To address changes to facial contour, 6 patients (17.6%) opted for procedural treatments. One patient (16.7%) experienced morphea reactivation following a filler injection performed off-immunosuppression. Compared to findings in children, our study suggests adults with PRS/ECDS are more likely to have oral and ocular complications but experience less severe neurologic symptoms. While systemic treatments appear beneficial in most adult patients with PRS/ECDS, disease may recur following discontinuation.

Introduction: Morphea, also known as localized scleroderma, is a rare fibrosing inflammatory disease of unknown pathogenesis. Objectives: Although the genetic basis for morphea is important, the evaluation of Toll-like receptors (TLR) in this disease is quite limited. We aimed to evaluate TLR expression levels and serum IL-6, IL-17A, TGF-b1, FGF, and VEGF levels in patients with morphea, and compare these results with healthy controls. Methods: The expression levels of TLRs in the lesional and non-lesional adjacent skin of patients with morphea, and normal skin of healthy controls were evaluated by RT-PCR whereas serum levels of IL-6, IL-17A, TGF-b1, FGF, and VEGF were evaluated by ELISA. Results: Based on our findings, TLR1 gene expression increased 34.3-fold in the lesional skin of patients with morphea. In addition, IL-6, IL-17A, TGF-β, FGF and VEGF were found to be higher in the blood samples of the patient group than in the healthy group. Conclusion: TLRs are important parts of the pathogenesis of morphea, and a better understanding of it will lead to more directed and effective treatments. We believe that this study will be important for pioneering TLR-targeted therapeutic approaches in the treatment of morphea in the future.

Isolated cutaneous swelling can have varied etiologies. The clinical diagnosis is usually difficult, and a correct diagnosis always requires a pathological examination. Hereby, we report a case of linear keloidal morphea on the neck of an 18‐year‐old male who presented with an asymptomatic, firm lesion for 6 months. Histopathological examination was consistent with morphea. This case highlights the uncommon form of morphea in an unusual location, which can be misdiagnosed for numerous neoplastic conditions and for which simple histopathological evaluation can clinch the diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Morphea, an autoimmune progressive disorder, can significantly impact patient well-being, yet therapeutic options, though expanding, exhibit limited efficacy. A persistent challenge in disease management revolves around monitoring disease activity and gauging treatment effectiveness. To address this, various clinical assessment tools have been devised, each with its inherent limitations. The realm of imaging in morphea has undergone noteworthy expansion, with ultrasonography (US) emerging as an efficacious and cost-effective avenue for quantifying disease activity and evaluating therapeutic outcomes. However, the evidential support for its application remains equivocal. Our aim was to explore and analyze the existing evidence concerning the utility of ultrasound in the management of morphea. Materials and Methods: We conducted a comprehensive literature review using PubMed Medline to assess evidence concerning US utility in morphea management. Results: Sixteen total studies were included in our review. Discussion: Although the studies presented carry their own limitations, cumulative findings indicate the potential of ultrasound, particularly when coupled with Doppler, in facilitating staging, assessing disease activity, and longitudinal assessment of therapeutic efficacy in patients with morphea.

Hypopigmentation disorders pose significant diagnostic challenges in dermatology, sometimes reflecting underlying hematological conditions. This review explores the clinical presentations related to hypopigmentation in hematological disorders, focusing on vitiligo, morphea, and syndromic albinism. Vitiligo, an autoimmune disorder targeting melanocytes, involves interactions between genetic polymorphisms and immune responses, particularly regarding CD8+ T cells and IFN-γ. Drug-induced vitiligo, notably by immune checkpoint inhibitors and small-molecule targeted anticancer therapies, underscores the importance of immune dysregulation. Morphea, an inflammatory skin disorder, may signal hematological involvement, as seen in deep morphea and post-radiotherapy lesions. Syndromic albinism, linked to various genetic mutations affecting melanin production, often presents with hematologic abnormalities. Treatment approaches focus on targeting the immune pathways specific to the condition, and when that is not possible, managing symptoms. Understanding these dermatological manifestations is crucial for the timely diagnosis and management of hematological disorders.

BackgroundThe Floating Sign is a histopathologic clue to the diagnosis of autoimmune sclerosing skin disorders such as morphea and interstitial granulomatous dermatitis (IGD). On the other hand, the "free-floating" sign has been associated with neoplasms, for example, dermatofibroma and interstitial mycosis fungoides. Herein, we report the Free Sign in sclerosing skin disorders.MethodsIn a case-control study, we applied detailed histopathologic definitions of Floating Sign and Free Sign to assess their presence in morphea, IGD, and other sclerosing disorders.ResultsFree Sign was present in most cases of morphea (46/55, 84%) and IGD (7/13, 54%) but not necrobiosis lipoidica (NL) (6/14, 42.8%) or sclerodermoid graft versus host disease (SGVHD) (2/7, 28.5%). The sensitivity and specificity of Free Sign for morphea versus other disorders was 84% and 56%, respectively. Floating Sign was not identified in most cases: NL (3/14, 21.4%), SGVHD (1/7, 14.2%), morphea (5/55, 9%), IGD (1/13, 7.7%). The diagnostic sensitivity of Floating Sign in morphea was 9%.ConclusionsThe Free Sign was present in most cases of morphea in our series and may represent a clue to the presence of evolving sclerosis. Free Sign may be seen in other sclerosing disorders. Technical artifact is a potential cause of a false-positive Free Sign.

Systemic sclerosis is a systemic connective tissue disease whose main pathophysiological mechanism is a progressive fibrosis of internal organs and skin leading to thickening and induration. Blood vessels may also be involved. However, systemic scleroderma is not the only disease causing cutaneous sclerosis. There is a group of diseases that mimic scleroderma in their clinical presentation - these are scleroderma-like syndromes. A distinction can be made between syndromes of inflammatory/autoimmune, genetic, metabolic, toxic, drug-induced, occupational, paraneoplastic and syndromes caused by deposition disorders. In the following paper, we have reviewed the literature on scleroderma-like syndromes. We have outlined the factors predisposing to the development of each disease, its pathogenesis, clinical presentation, diagnostic and treatment process and the differences between each syndrome and systemic scleroderma. [ABSTRACT FROM AUTHOR]

Hypopigmentation disorders pose significant diagnostic challenges in dermatology, sometimes reflecting underlying hematological conditions. This review explores the clinical presentations related to hypopigmentation in hematological disorders, focusing on vitiligo, morphea, and syndromic albinism. Vitiligo, an autoimmune disorder targeting melanocytes, involves interactions between genetic polymorphisms and immune responses, particularly regarding CD8+ T cells and IFN-γ. Drug-induced vitiligo, notably by immune checkpoint inhibitors and small-molecule targeted anticancer therapies, underscores the importance of immune dysregulation. Morphea, an inflammatory skin disorder, may signal hematological involvement, as seen in deep morphea and post-radiotherapy lesions. Syndromic albinism, linked to various genetic mutations affecting melanin production, often presents with hematologic abnormalities. Treatment approaches focus on targeting the immune pathways specific to the condition, and when that is not possible, managing symptoms. Understanding these dermatological manifestations is crucial for the timely diagnosis and management of hematological disorders. [ABSTRACT FROM AUTHOR]

BACKGROUND: Pansclerotic morphea is an unusual entity, more frequent in children, with few descriptions of adult-onset cases. This subtype of morphea is characterized by extensive sclerosis primarily in the skin compromising tissue beyond the dermis, generating great morbidity in patients by putting them at risk of intense pain, muscle contractures and limitation in the arches of mobility. Due to its large sclerotic component, the most important differential diagnosis is diffuse systemic sclerosis; however, pansclerotic morphea differs in the absence of sclerodactyly, Raynaud's phenomenon and involvement of internal organs. CLINICAL CASE: A 34-year-old female patient with pansclerotic morphea who presented rapid and important progression of skin involvement, requiring high potency topical and oral corticosteroids with initiation of an immunomodulator with oral methotrexate to slow its progression, which initially led to the diagnosis of diffuse systemic sclerosis. CONCLUSIONS: Although pansclerotic morphea is unusual in the adult population, it is a differential diagnosis that requires a rigorous clinical approach, excluding more frequent causes and, in this way, prevent the damage and limitation caused by the rapid commitment that can cause long term sequelae. [ABSTRACT FROM AUTHOR]

Copyright of Journal of the Argentine Society of Dermatology / Revista de la Journal Sociedad Argentina de Dermatología is the property of Editorial Biotecnologica S.R.L and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Idiopathic sclerotic skin illnesses are included under the term "morphea", sometimes known as localized scleroderma. Deep induration of the skin and subcutaneous tissue that extends to the underlying muscle and bone is a feature of the morphea subtype known as "deeply circumscribed morphea. Improving the long-term result requires early diagnosis, accurate evaluation, and efficient therapy. We report a case of a 3-year-old boy with a 2-year history of multiple erythematous to violaceous plaques with subcutaneous atrophy on the buccal, oral, mental, and neck area. He has difficulty of swallowing large pieces of food. A skin biopsy confirmed the diagnosis and showed the usual morphology of morphea. The patient was administrated tapered systemic corticosteroid for 20 weeks and oral Methotrexate course for 24 weeks. There was clinical improvement of the lesions clinically with decreased hyperpigmentation of the lesions, regression of the induration and no difficulty of swallowing. The patient is still being followed to assess progression of the lesions and disease activity. Skin biopsy results and typical clinical symptoms are often used to diagnose morphea. Early diagnosis and treatment are required to reduce harm, such as aesthetic sequelae and functional impairment, that may be caused by uninterrupted exercise. Treatment depends on the depth of lesion involvement and the extent of the disease, focuses primarily on limiting disease activity. Morphea may be self-limited, but frequently has a remitting, relapsing or chronic course, resulting in significant disease burden over time. [ABSTRACT FROM AUTHOR]

Copyright of Journal der Deutschen Dermatologischen Gesellschaft is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Summary: The updated S2k guideline deals with the diagnosis and therapy of localized scleroderma (LoS). LoS represents a spectrum of sclerotic skin diseases in which, depending on the subtype and localisation, structures such as adipose tissue, muscles, joints, and bones may also be affected. Involvement of internal organs or progression to systemic sclerosis does not occur. LoS can be classified into four main forms: limited, generalized, linear, and mixed forms, with some additional subtypes. For cases of limited skin involvement, the guideline primarily recommends therapy with topical corticosteroids. UV therapy can also be recommended. In subtypes with severe skin or musculoskeletal involvement, systemic therapy with methotrexate is recommended. During the active phase of the disease, systemic glucocorticosteroids can be used additionally. In cases of methotrexate and steroid refractory courses, contraindications, or intolerance, mycophenolate mofetil, mycophenolic acid, or abatacept can be considered as second‐line systemic therapies. In the case of linear LoS, autologous adipose‐derived stem cell transplantation can also be performed for correcting soft tissue defects. [ABSTRACT FROM AUTHOR]

Hemimasticatory spasm (HMS) is a rare movement disorder characterized by paroxysmal spasms or twitches of the unilateral jaw-closing muscles. This study aimed to comprehensively evaluate the clinical features of patients with HMS. Data from 17 patients newly diagnosed with HMS (12 females and 5 males; mean age at onset: 46.7 years) who visited our department were retrospectively analyzed, and a literature search based on electronic medical databases from their inception until November 30, 2023, was conducted. A manual search was conducted for articles cited in the related literature. A total of 117 cases (72 females and 45 males; mean age at onset: 37.1 years) from 57 studies were analyzed. The muscles involved were the masseter (97.4%), temporalis (47.9%), and medial pterygoid (6%). Morphea or scleroderma was observed in 23.9% of the patients, and facial hemiatrophy in 27.4%. In 17.9% of the cases, Parry--Romberg syndrome was either complicated or suspected. Typical electromyographic findings included the absence of a silent period during spasms (23.9%) and irregular brief bursts of multiple motor unit potentials. Oral medicines, such as clonazepam or carbamazepine, alleviated the symptoms for some patients but were often unsatisfactory. Botulinum toxin therapy was effective in most cases. Recently, microvascular decompression surgery is increasingly being used, resulting in complete relief in some cases. In conclusion, highly effective modalities are currently available, and it is necessary to raise awareness of HMS to ensure that it can be diagnosed and treated accurately by both medical and dental professionals. [ABSTRACT FROM AUTHOR]

BackgroundThe application of autologous fat transplantation in facial lesions of patients with localized scleroderma (LoS) has been reported in recent years.ObjectiveThe authors report a case of worsening of active localized scleroderma after autologous fat transplantation.MethodsA man presented with neck and facial skin atrophy and pigmentation with a history of LoS. Appearing 1.5 years ago, the lesion had progressively grown in size and shape. Consent was obtained after the patient was informed of the possible surgical risks during the active phase of the disease. He underwent autologous fat grafting into the right cheek with about 30 ml Coleman fat graft.ResultsSkin dyspigmentation and atrophy progressively deteriorated 1 month into therapy, with slightly increased erythema and enlargement of the lesion. Six months after the therapy, the localized scleroderma-related score worsened.LimitationsThere are different factors, such as that systemic medications could affect the treatment of localized scleroderma by autologous fat transplantation. Meanwhile, considering the limitation of the 6-month follow-up period, obtaining long-term follow-up data is necessary to evaluate sustained outcomes and potential complications.ConclusionMore clinical research is needed to determine the time interval between disease inactivity and the application of any surgical procedures to avoid reactivation.

Linear morphea is the most disabling subtype of morphea, which may cause a series of excutaneous manifestations and sequelae. To futher explore the clinical characteristics of linear morphea, we conducted a retrospective study of 22 patients diagnosed with linear morphea in our department during the past 2 years. Their baseline clinical information, skin manifestations, complications and therapeutic effect were analyzed. Here, we report six cases of a special linear morphea, usually occurring on the unilateral upper limbs of young women, spreading along the distribution of the radial nerve and frequently progressing across the joint, which increases the incidence of neuromusculoskeletal disorders. Instead of traditional topical drugs, a combination of systemic prednisone and methotrexate improved their skin lesions and complications. Recognition of this special type of linear morphea enables earlier diagnosis and active treatment plan, which contributes to ameliorate the symptoms and avoid functional sequelae.

Background: Morphea, or localized scleroderma, is an inflammatory, fibrosing skin disorder that can be progressive and debilitating. Infrared thermography frequently has false positive results. The aim of this study was to assess the ability of multispectral imaging to predict disease progression in children with morphea. Methods: Children with morphea were recruited between 2016 and 2022. Multispectral images of affected and matched contralateral unaffected sites were obtained using the Antera™ 3D camera. Clinical assessment was performed using the Localized Scleroderma Assessment Tool (LoSCAT). Children were followed up every 3 months for imaging and clinical review. The main outcome measurement was correlation of hemoglobin gradient between affected and matched contralateral unaffected tissue and progression. Results: Of 17 children, the average age was 12 years (range 6–18 years); most were female (76.5%) and white (94.1%). Nearly two‐thirds (64.7%) had linear morphea, 35.2% had plaque morphea; 58.8% had been treated with systemic agents. The average LoSCAT score was 20.6 (range 5–73). The average hemoglobin gradient between affected and matched contralateral unaffected skin was four times higher in those who had progression (average differential 0.3, range 0.1–0.4) compared to those who did not (average differential 0.08, range 0.02–0.15). Using a cut off of a 0.18 hemoglobin gradient between affected and unaffected skin, the sensitivity of multispectral imaging for detecting progression in pediatric morphea is 90% with specificity of 100%. Conclusions: Multispectral imaging is a novel assessment tool with promising accuracy in predicting progression as an adjunct to clinical assessment in pediatric morphea. Further research should examine its performance against thermography. [ABSTRACT FROM AUTHOR]

Copyright of Die Dermatologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Die Dermatologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Early generalized morphea can clinically mimic mycosis fungoides. The microscopic features of early inflammatory morphea may show variable degrees of infiltration and do not have the characteristic dermal collagen sclerosis. We report the case of a 63‐year‐old female patient who presented with a 2‐month history of an asymptomatic skin rash. Physical examination revealed multiple erythematous to dusky patches on the trunk and thighs, resembling the patch stage of mycosis fungoides. Two skin biopsies were performed, both of which showed prominent interstitial lymphoid infiltration in the reticular dermis without dermal sclerosis. Small lymphocyte exocytosis and lining along the dermal–epidermal junction were observed focally in the epidermis. Small clusters of plasma cells and eosinophils were observed in perivascular areas. Although no predominant clonality was found for CD4 and CD8 stains, 50% loss of CD5 antigen and 90% loss of CD7 antigen expression were apparent in immunohistochemical studies. Subsequent blood tests showed a normal blood cell count and positive human T‐lymphotropic virus Type 1 antibodies. The overall findings suggested interstitial mycosis fungoides or early adult T‐cell lymphoma–leukemia. The patient refused aggressive treatment, and 3 months later, she presented with indurated plaques from the previous rash. A repeat biopsy revealed the typical features of morphea. This report discussed the pitfalls in the clinical and histopathological diagnosis of early generalized inflammatory morphea that both clinicians and pathologists should consider. [ABSTRACT FROM AUTHOR]

Background: The Floating Sign is a histopathologic clue to the diagnosis of autoimmune sclerosing skin disorders such as morphea and interstitial granulomatous dermatitis (IGD). On the other hand, the "free‐floating" sign has been associated with neoplasms, for example, dermatofibroma and interstitial mycosis fungoides. Herein, we report the Free Sign in sclerosing skin disorders. Methods: In a case‐control study, we applied detailed histopathologic definitions of Floating Sign and Free Sign to assess their presence in morphea, IGD, and other sclerosing disorders. Results: Free Sign was present in most cases of morphea (46/55, 84%) and IGD (7/13, 54%) but not necrobiosis lipoidica (NL) (6/14, 42.8%) or sclerodermoid graft versus host disease (SGVHD) (2/7, 28.5%). The sensitivity and specificity of Free Sign for morphea versus other disorders was 84% and 56%, respectively. Floating Sign was not identified in most cases: NL (3/14, 21.4%), SGVHD (1/7, 14.2%), morphea (5/55, 9%), IGD (1/13, 7.7%). The diagnostic sensitivity of Floating Sign in morphea was 9%. Conclusions: The Free Sign was present in most cases of morphea in our series and may represent a clue to the presence of evolving sclerosis. Free Sign may be seen in other sclerosing disorders. Technical artifact is a potential cause of a false‐positive Free Sign. [ABSTRACT FROM AUTHOR]

Morphea is an uncommon inflammatory and fibrosing disorder that has a polymorphous clinical presentation. We report two cases of morphea developing as an isotopic response after a preceding benign skin disease, accompanied by a review of the literature. This case series highlights the importance of return to care recommendations for benign skin conditions such lichen striatus and pigmented purpuric dermatoses due to the rare possibility of subsequent morphea development. [ABSTRACT FROM AUTHOR]

Morphea, a localized scleroderma variant, is a rare dermatological condition characterized by fibrosis and thickening of the skin. While its etiology remains unclear, there have been reports of its association with viral infections, including COVID-19. We present a case of morphea in a 26-year-old female patient with a history of two episodes of COVID-19. The patient exhibited cutaneous lesions on her left forearm, bilateral axillae, and groin, accompanied by abdominal wall induration Laboratory investigations revealed no significant abnormalities, except for positive antinuclear antibodies (ANA) with various patterns. This case highlights the potential association between COVID-19 infection and the development of morphea, underscoring the importance of considering this relationship in patients presenting with dermatological manifestations following COVID-19. Further research is needed to elucidate the underlying mechanisms and optimize treatment strategies for such cases. [ABSTRACT FROM AUTHOR]