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PLOS Global Public Health 2023There is still a lack of research in Vietnam on the autoantibody profile of dermatomyositis (DM) and its association with clinical and subclinical characteristics....
There is still a lack of research in Vietnam on the autoantibody profile of dermatomyositis (DM) and its association with clinical and subclinical characteristics. Therefore, we conducted this study to investigate clinical and subclinical correlations with autoantibodies in DM patients. 72 DM patients at Vietnam National Hospital of Dermatology and Venereology (NHDV) from March 2019 to September 2021 were included in this cross-sectional study. Clinical manifestations and laboratory test results of the patients were obtained at the time of visit. Of these, 63 patients were tested for the presence of autoantibodies using an Immunoblot assay. Our findings show that the average age of patients was 41.7 years. The female-male ratio was 1.7:1. The most common skin and muscle manifestations were myalgia (79.2%), heliotrope rash (62.5%), shawl sign (61.1%), Gottron's sign (59.7%), muscle weakness (59.7%), Gottron's papule (52.8%), periungual telangiectasia (41.7%), V-sign (38.9%), poikiloderma (26.4%), periungual fissures (20.8%), Raynaud's phenomenon (15.3%). Among the 63 patients tested for autoantibodies, myositis-specific antibodies (MSAs) were found in 71.4% of the serum samples, and myositis-associated antibodies (MAAs) in 36.5%. Anti-TIF1γ antibody accounted for the highest percentage (28.6%), followed by anti-Ro52 (22.2%), anti-synthetase (17.5%), anti-Mi-2 and anti-MDA5 (both 14.3%). Anti-synthetase antibodies (ARS-Abs) showed a significant association with arthralgia, fever, and Raynaud's phenomenon, while anti-TIF1γ antibodies showed a strong association with V-sign and poikiloderma (p<0.05). Clinical features in dermatomyositis are heterogeneous. Our study results show some associations between clinical features and autoantibodies in patients with DM. The analysis of DM-related autoantibodies is clinically useful, will be essential for the approaches to diagnosis, and management of DM patients.
PubMed: 36962887
DOI: 10.1371/journal.pgph.0000979 -
JAAD Case Reports Apr 2020
PubMed: 32258293
DOI: 10.1016/j.jdcr.2020.01.020 -
Medicine Jul 2018Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial...
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.
RATIONALE
Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. The distinctive features of FMD include skeletal dysplasia, facial dysmorphism, extremities anomalies, deafness, cleft palate and eye anterior segment anomalies, yet none of the complications, such as acro-osteolysis, keratitis, xerosis or poikiloderma, have been reported in FMD.
PATIENT CONCERNS
A 29-year-old mother and her 7-year-old daughter, both presented with congenital glaucoma, craniofacial dysmorphism, xerosis and poikiloderma, were admitted to our hospital in 2011. Additionally, the mother also suffered from acro-osteolysis, keratitis, camptodactyly of hands and metastatic cutaneous squamous cell carcinoma (SCC) which turned out to be fatal 5 years later. In 2017, keratitis and acro-osteolysis were noticed in the daughter as well. Radiography showed bowed long bones with thickening cortex, and distal phalangeal osteolysis.
DIAGNOSES
Whole genome sequencing (WGS) was conducted in 2016, resulting in 71491 single-nucleotide polymorphisms and 7616 indels shared by patients while the father was taken as control. A FLNA variant was classified likely pathogenic, supporting the diagnoses of FMD. In addition, though our patients' symptoms were highly consistent with xeroderma pigmentosum variant, a mild subtype of xeroderma pigmentosum (XP) with merely accumulated UV-induced lesions like xerosis and poikiloderma limited to sun-exposure sites, higher risks of cutaneous neoplasms and absence of classical XP features, WGS didn't find supportive genetical evidence, but 2 HERC2 variants were assigned highest suspicion in both XP and SCC by bioinformatical analyses.
INTERVENTIONS
Anti-inflammatory treatment, sunscreens and moisturizers were administered.
OUTCOMES
The daughter's cutaneous lesions developed slowly during the 6-year follow-up, but the keratitis seriously weakened her sight.
LESSONS
To our knowledge, it's the first report of cases carrying FMD, keratitis, xerosis, poikiloderma and acro-osteolysis simultaneously, and 3 likely pathogenic variants were identified. Whole genome/exon sequencing is recommended as a common test for patients with rare phenotypes.
Topics: Adult; Aftercare; Amputation, Surgical; Blindness; Carcinoma, Squamous Cell; Child; Fatal Outcome; Female; Filamins; Forehead; Humans; Lower Extremity; Mothers; Mutation; Nuclear Family; Osteochondrodysplasias; Polymorphism, Single Nucleotide; Skin Neoplasms; Whole Genome Sequencing
PubMed: 29995760
DOI: 10.1097/MD.0000000000011283 -
Indian Journal of Ophthalmology Oct 2017A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed... (Review)
Review
A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.
Topics: Diagnostic Techniques, Ophthalmological; Dry Eye Syndromes; Eyelid Diseases; Humans; Lubricant Eye Drops; Male; Meibomian Glands; Mouth Mucosa; Ophthalmologic Surgical Procedures; Rothmund-Thomson Syndrome; Young Adult
PubMed: 29044077
DOI: 10.4103/ijo.IJO_89_17 -
Cureus May 2022Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of...
Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. The mucosae genitourinary system is commonly affected. The urological manifestations include meatal stenosis, urethral stricture, phimosis, and scarring of the glans penis. Skin biopsy with genetic analysis is the gold standard for diagnosis. Genetic counseling and a multidisciplinary approach are the mainstays of treatment.
PubMed: 35676982
DOI: 10.7759/cureus.24758 -
Indian Journal of Dermatology Sep 2012Dermatomyositis (DM) is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have...
Dermatomyositis (DM) is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron's papules, Gottron's sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic's hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.
PubMed: 23112358
DOI: 10.4103/0019-5154.100486 -
Dermatology Online Journal Aug 2017Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It...
Primary localized cutaneous amyloidosis refers to a group of disorders characterized by deposition of amyloid in the dermis without any systemic involvement. It comprises the following clinical types: macular, lichenoid, nodular, and biphasic. There are also rare variants such as amyloidosis cutis dyscromica and poikiloderma-like cutaneous amyloidosis. We report a case of primary cutaneous amyloidosis in a 17-year-old boy with unusual pigmentation of various patterns (reticulate and diffuse pigmentation with mottling and rippling at places) and hypopigmented atrophic macules. Our patient also had nail, oral, and mucosal pigmentation that have not been described. Amyloid deposits were shown histopathologically in both hyperpigmented and hypopigmented macules.
Topics: Adolescent; Amyloidosis; Foot Dermatoses; Hand Dermatoses; Humans; Hyperpigmentation; Hypopigmentation; Keratosis; Male; Mouth Diseases
PubMed: 29469741
DOI: No ID Found -
Cureus Dec 2023Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily...
Juvenile dermatomyositis (JDM) is a chronic autoimmune inflammatory disorder and is considered the most common form of idiopathic inflammatory myopathies. JDM primarily affects the skin and the skeletal muscles. Characteristic signs and symptoms include Gottron papules, heliotrope rash, calcinosis cutis, and symmetrical proximal muscle weakness. However, JDM presenting with generalized scaly poikeloderma is an unfamiliar presentation. Herein we report a 14-month-old female toddler presented with generalized progressive asymptomatic scaly mottled violaceous patches (poikilodermatous) that started when she was seven months old. Her lab results were unremarkable. She was diagnosed with poikilodermatous skin rash with a differential diagnosis of Amyopathic dermatomyositis, poikilodermatous genodermatosis, and patch-stage mycosis fungoides. She was prescribed moisturizer creams only. A year later, during a follow-up, she presented with a full picture of JDM, with a history of scaly poikilodermatous skin patches that became more widespread, frequent choking during oral intake, and not being able to stand and sit unsupported. Laboratory workup was significant for low WBC and hemoglobin counts, along with elevated CPK, LDH, ferritin, CRP, and ESR levels. MRI revealed the right anterior thigh and vastus lateralis subcutaneous edema. Therefore, the child was diagnosed and treated as a case of JDM.
PubMed: 38222200
DOI: 10.7759/cureus.50573 -
European Annals of Otorhinolaryngology,... Jun 2011Dermatomyositis (DM) is a multisystem inflammatory disorder primarily affecting the skin and muscles. Its pathophysiology is still very poorly understood, but humoral... (Review)
Review
Dermatomyositis (DM) is a multisystem inflammatory disorder primarily affecting the skin and muscles. Its pathophysiology is still very poorly understood, but humoral and cellular immune dysregulation is apparent. Diagnosis of DM is based on five criteria: proximal limb muscle weakness, serum muscle enzyme elevation, histopathologic muscle abnormalities on muscle biopsy, electromyographic abnormalities, and clinical inflammatory dermatological manifestations (heliotrope rash, poikiloderma, and inflammatory lesions on the hands and facing joints). DM is frequently associated with certain cancers, and may appear before, concurrent with, or after diagnosis of cancer. DM has been reported to be associated with approximately one per 1000 cases of nasopharyngeal carcinoma. Treatment is based on long-course nonselective immunosuppression, particularly corticosteroids, by general route, even when malignancy is present, but new-targeted therapies may modify the treatment strategy in the near future. Despite iatrogenic immunosuppression, the prognosis of nasopharyngeal cancer is not worse in patients with paraneoplastic DM. We report one case as an illustration of this paraneoplastic course (evolving in parallel with the cancer), and to make an update on the state of knowledge on paraneoplastic DM in such cancers.
Topics: Antineoplastic Combined Chemotherapy Protocols; Carcinoma; Dermatomyositis; Humans; Immunosuppressive Agents; Lung Neoplasms; Lymphatic Metastasis; Male; Middle Aged; Nasopharyngeal Neoplasms; Neck Dissection; Paraneoplastic Syndromes; Prognosis
PubMed: 21257359
DOI: 10.1016/j.anorl.2010.10.007 -
Frontiers in Immunology 2023Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis...
INTRODUCTION
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and poikiloderma in association with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are rare inherited syndromes resulting from biallelic pathogenic variants in and heterozygous pathogenic variants in , respectively. The clinical diagnosis of APECED and POIKTMP rely on the development of two or more characteristic disease manifestations that define the corresponding syndromes. We discuss the shared and distinct clinical, radiographic, and histological features between APECED and POIKTMP presented in our patient case and describe his treatment response to azathioprine for POIKTMP-associated hepatitis, myositis, and pneumonitis.
METHODS
Through informed consent and enrollment onto IRB-approved protocols (NCT01386437, NCT03206099) the patient underwent a comprehensive clinical evaluation at the NIH Clinical Center alongside exome sequencing, copy number variation analysis, autoantibody surveys, peripheral blood immunophenotyping, and salivary cytokine analyses.
RESULTS
We report the presentation and evaluation of a 9-year-old boy who was referred to the NIH Clinical Center with an APECED-like clinical phenotype that included the classic APECED dyad of CMC and hypoparathyroidism. He was found to meet clinical diagnostic criteria for POIKTMP featuring poikiloderma, tendon contractures, myopathy, and pneumonitis, and exome sequencing revealed a c.1292T>C heterozygous pathogenic variant in but no deleterious single nucleotide variants or copy number variants in .
DISCUSSION
This report expands upon the available genetic, clinical, autoantibody, immunological, and treatment response information on POIKTMP.
Topics: Male; Humans; DNA Copy Number Variations; Polyendocrinopathies, Autoimmune; Autoantibodies; Azathioprine; Phenotype; Cell Cycle Proteins
PubMed: 36875114
DOI: 10.3389/fimmu.2023.1133387