“…New studies have been investigating whether skin disorders common in Parkinson patients could be used as an aid to diagnose Parkinson disease where diagnosis is based on clinical findings as there are no known biomarkers for Parkinson [12,13]. A 2020 study by Showalter et al assembled a panel of biomarkers found in skin that were representative of systemic sclerosis and could potentially be used to stage disease progression [14]. Kidney disorders have also taken a leap into the possibility of diagnosis through biomarkers present in skin [15].…”
Degenerative Suspensory Ligament Desmitis (DSLD) negatively impacts connective tissues in horses, which often leads to progressive chronic pain and lameness. DSLD has been shown to be a systemic disorder that affects multiple body systems, including tendons, sclerae, and the aorta. Currently, the diagnosis is confirmed by post mortem histological examination of a tendon or suspensory ligament. Histology reveals inappropriate accumulations of proteoglycans in the tendons and other tissues in DSLD-affected horses. Unfortunately, there is no reliable method to diagnose DSLD in living horses. Recently, bone morphogenetic protein 2 (BMP2) was identified in active DSLD lesions. In addition, recent data from RNA sequencing (RNA-seq) showed overexpression of numerous genes, among them BMP2, FOS and genes for keratins in DSLD skin biopsies-derived RNA. We hypothesized that some of these genes can be used as biomarkers for diagnosis of DSLD in a panel. Overexpression of some of them was verified in quantitative real time PCR. Immunohistochemistry and RNAscope in-situ hybridization (ISH) assays were used to determine the level of overexpression of specific genes in skin biopsies from control and DSLD-affected horses. The RNAscope ISH assay has shown to be more reliable and more specific that immunohistochemistry. ISH confirmed a significant increase in KRT83 and BMP-2 in hair follicles in DSLD cases, as well as abnormally high expression of FOS in the epidermis, especially in aging horses. Because statistically relevant specificity and sensitivity was documented only for FOS and BMP2, but not KRT83 we recommend the use of FOS and BMP2 panel to diagnose DSLD. We conclude that a panel of two markers from the studied group (BMP2 and FOS) can serve as an additional diagnostic tool for DSLD in living horses, especially in older animals. Further studies are necessary to confirm if this biomarker panel could be used as a prospective tool to identify DSLD in horses as they age.
“…New studies have been investigating whether skin disorders common in Parkinson patients could be used as an aid to diagnose Parkinson disease where diagnosis is based on clinical findings as there are no known biomarkers for Parkinson [12,13]. A 2020 study by Showalter et al assembled a panel of biomarkers found in skin that were representative of systemic sclerosis and could potentially be used to stage disease progression [14]. Kidney disorders have also taken a leap into the possibility of diagnosis through biomarkers present in skin [15].…”
Degenerative Suspensory Ligament Desmitis (DSLD) negatively impacts connective tissues in horses, which often leads to progressive chronic pain and lameness. DSLD has been shown to be a systemic disorder that affects multiple body systems, including tendons, sclerae, and the aorta. Currently, the diagnosis is confirmed by post mortem histological examination of a tendon or suspensory ligament. Histology reveals inappropriate accumulations of proteoglycans in the tendons and other tissues in DSLD-affected horses. Unfortunately, there is no reliable method to diagnose DSLD in living horses. Recently, bone morphogenetic protein 2 (BMP2) was identified in active DSLD lesions. In addition, recent data from RNA sequencing (RNA-seq) showed overexpression of numerous genes, among them BMP2, FOS and genes for keratins in DSLD skin biopsies-derived RNA. We hypothesized that some of these genes can be used as biomarkers for diagnosis of DSLD in a panel. Overexpression of some of them was verified in quantitative real time PCR. Immunohistochemistry and RNAscope in-situ hybridization (ISH) assays were used to determine the level of overexpression of specific genes in skin biopsies from control and DSLD-affected horses. The RNAscope ISH assay has shown to be more reliable and more specific that immunohistochemistry. ISH confirmed a significant increase in KRT83 and BMP-2 in hair follicles in DSLD cases, as well as abnormally high expression of FOS in the epidermis, especially in aging horses. Because statistically relevant specificity and sensitivity was documented only for FOS and BMP2, but not KRT83 we recommend the use of FOS and BMP2 panel to diagnose DSLD. We conclude that a panel of two markers from the studied group (BMP2 and FOS) can serve as an additional diagnostic tool for DSLD in living horses, especially in older animals. Further studies are necessary to confirm if this biomarker panel could be used as a prospective tool to identify DSLD in horses as they age.
“…The gold standard method to evaluate skin thickness is the modified Rodnan skin score, which should always be correlated with the clinical grounds and autoantibody profile [ 110 , 111 ]. Changes in the diagnosis criteria could appear in the coming years as recent studies have shown that multiple histologic parameters correlate with severity [ 116 ]. Fig.…”
Introduction
Non-dermatology medical specialties may refer patients for skin biopsies, searching for a particular diagnosis. However, the diagnostic impact of the skin biopsy is not clearly established. This article aims to assess the indications for, and evaluate the clinical relevance of, skin biopsies in non-dermatology medical specialties.
Methods
A questionnaire was sent to 23 non-dermatology specialty departments in a university medical center, requesting a list of indications for skin biopsies, as well as to 10 staff dermatologists to collect the indications of skin biopsies requested by non-dermatology specialties. Once the indications were collected, a literature search was performed to evaluate their clinical value and relevance.
Results
Eleven non-dermatology specialties provided a list of skin biopsy indications, to which staff dermatologists added seven more indications. A literature search revealed evidence-based medicine data for six diseases, that is, amyloidosis, peripheral autonomic neuropathy, Sneddon’s syndrome, intravascular lymphoma, sarcoidosis, and chronic graft-versus-host disease. Results were questionable concerning infectious endocarditis, acute graft-versus-host-disease, and the lupus band test. Skin biopsy were not evidenced as useful for the diagnosis of calciphylaxis, systemic scleroderma, Behçet’s disease, or hypermobile Ehlers–Danlos syndrome. For the diagnosis of Alport’s syndrome, pseudoxanthoma elasticum, and vascular Ehlers–Danlos syndrome, skin biopsy is currently outperformed by genetic analyses. For diagnoses such as Henoch–Schönlein purpura and Sjögren’s syndrome, skin biopsy represents an additional item among other diagnostic criteria.
Conclusion
The usefulness of skin biopsy as requested by non-dermatology specialties is only evidenced for amyloidosis, peripheral autonomic neuropathy, Sneddon’s syndrome, intravascular lymphoma, sarcoidosis, chronic graft-versus-host-disease, Henoch–Schönlein purpura, and Sjögren’s syndrome.
“…The histopathological picture of scleroderma is very similar to morphea, so it needs a clinical correlation to help make the diagnosis. 5,12, 13 An important element in the management of skin manifestations of scleroderma is to maintain circulation, joint mobility, and muscle strength. Skin affected by scleroderma tends to be very dry, tight, and prone to trauma.…”
Introduction: Scleroderma is a rare autoimmune disease of connective tissue characterized by extensive fibrosis, inflammation, and vasculopathy. It classified as limited cutaneous and diffuse based on the degree of skin involvement. The management is still a challenge since it has a high morbidity and mortality rate. This case report aims to understand scleroderma and provide appropriate treatment that can improve the patient's prognosis.Case report: A 55-year-old female came with complaints of stiff skin on the forearms, lower legs and face since approximately eight months ago, initially on the right and left forearms, then to face, right and left lower legs. On physical examination, there was sclerosis of the skin on the face, forearms and lower legs, and salt and pepper appearance with Rodnan score were 26. The result from histopathological examination were sceleroderma. The patient was diagnosed with limited cutaneous scleroderma. The management consisted of methotrexate, folic acid, sulpha ferrous, vitamins B1, B6, B12 intraorally and 10% urea cream topically. She also was informed to practice moving the hands and fingers slowly.Conclusion: The diagnosis of limited cutaneous scleroderma is based on history, physical examination and investigations. It is still a life-threatening disease, however multidisciplinary management with early detection and treatment of complications can improve the prognosis.
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