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1.
Eur Rev Med Pharmacol Sci ; 27(21): 10705-10715, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37975396

ABSTRACT

BACKGROUND: Perforating dermatoses are heterogeneous skin disorders characterized by transepidermal elimination of dermal tissue components. Acquired perforating dermatoses can be divided into four types, according to the eliminated dermal materials: Kyrle disease, perforating reactive collagenosis, elastosis perforans serpiginosa, and perforating folliculitis. They characterize adult patients with coexisting systemic diseases, regardless of the dermal materials eliminated. The association between Kyrle disease and renal failure or diabetes mellitus is common. CASE REPORT: We reported the case of Kyrle disease in a patient with chronic kidney disease. A literature review was performed with the aim to highlight the associated comorbidities and point out the role of early and specific treatment of the cutaneous symptoms and manifestations. CONCLUSIONS: Being Kyrle disease a pruritic condition which adversely affects the patient's quality of life, it would be desirable to place greater therapeutic attention on the alleviation of itching and on the correct management of the underlying comorbidity.


Subject(s)
Collagen Diseases , Darier Disease , Folliculitis , Skin Diseases , Adult , Humans , Quality of Life , Darier Disease/diagnosis , Darier Disease/complications , Folliculitis/complications , Collagen Diseases/complications , Collagen Diseases/diagnosis , Pruritus/complications
2.
Dtsch Med Wochenschr ; 147(21): 1371-1383, 2022 10.
Article in German | MEDLINE | ID: mdl-36279863

ABSTRACT

Interstitial lung diseases (ILD) are etiologically heterogeneous with unknown and known causes like rheumatologic systemic diseases differing in their therapeutic and prognostic consequences. In consensus between pulmonologists, rheumatologists, radiologists, and pathologists, we developed practical instructions for ILD diagnosis in rheumatologic systemic diseases, in particular because ILD can present in early stages of rheumatic systemic diseases. ILD diagnosis is based on clinical assessment results including a detailed medical history, physical examination, focused laboratory tests, radiology with a high-resolution computed tomography, lung function, and histopathology also to differentiate it from cardiac and infection associated lung diseases. The ILD diagnosis is made in a multidisciplinary discussion leading to therapeutic and prognostic consequences. The occurrence of acute exacerbations is especially critical. They are often the causes for ILD progression and are associated with considerable mortality.


Subject(s)
Arthritis, Rheumatoid , Collagen Diseases , Lung Diseases, Interstitial , Rheumatic Diseases , Humans , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/etiology , Rheumatic Diseases/complications , Collagen Diseases/complications , Tomography, X-Ray Computed/adverse effects , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/complications , Lung/diagnostic imaging
3.
In Vivo ; 36(3): 1468-1476, 2022.
Article in English | MEDLINE | ID: mdl-35478104

ABSTRACT

BACKGROUND/AIM: To investigate factors associated with increased bone mineral density (BMD) of the neck of femur in rheumatoid arthritis or collagen diseases receiving denosumab, focusing on body composition calculated by bioelectrical impedance analysis (n=90, 78 females). PATIENTS AND METHODS: We defined Δfemur as BMD (12 months minus baseline), using dual-energy X-ray absorptiometry after denosumab therapy. Factors associated with Δfemur were retrospectively investigated. RESULTS: Low skeletal muscle index (SMI) was observed in 6 males and 32 females. There was a significant difference in phase angle (PhA) of the left leg (LL) between the Δfemur ≥0 (n=70) and Δfemur <0 (n=20) groups (p=0.040) but not in SMI (p=0.310). Multiple regression analysis indicated that PhA of LL was significantly related to Δfemur (p=0.0398). CONCLUSION: PhA appears to be a clinically significant indicator of improvement of Δfemur in patients receiving denosumab.


Subject(s)
Arthritis, Rheumatoid , Collagen Diseases , Arthritis, Rheumatoid/drug therapy , Body Composition/physiology , Bone Density , Collagen Diseases/complications , Collagen Diseases/drug therapy , Denosumab/adverse effects , Female , Femur Neck/diagnostic imaging , Humans , Male , Retrospective Studies
4.
Sci Rep ; 12(1): 2360, 2022 02 11.
Article in English | MEDLINE | ID: mdl-35149748

ABSTRACT

Herein, we aimed to explore whether male patients with congenital collagen diseases had a higher risk of inguinal herniation than patients without these diseases. Data were retrospectively collected from the National Health Insurance Research Database of Taiwan. The study cohort included 1,801 male patients diagnosed with congenital collagen diseases based on the ICD-9 CM diagnostic codes; after propensity score matching, the control group comprised 6,493 men without congenital collagen diseases. The primary endpoint was inguinal hernia repair during the observation period. During a median follow-up period of 133.9 months, the risk of inguinal herniation in the collagen group was significantly higher than that in the control group (HR = 2.237, 95% CI 1.646-3.291, p < 0.001). This phenomenon was observed in patients younger than 18 years (HR: 3.040, 95% CI 1.819-5.083, p < 0.001) and in those aged 18-80 years (HR: 1.909, 95% CI 1.186-3.073, p < 0.001). Asian men with congenital collagen diseases are at a high risk of developing inguinal hernias, regardless of age. Detailed physical examination and patient education should be performed for these patients to prevent inguinal herniation.


Subject(s)
Collagen Diseases/congenital , Collagen Diseases/complications , Hernia, Inguinal/etiology , Hernia, Inguinal/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Child , Collagen Diseases/epidemiology , Databases, Factual , Disease Progression , Follow-Up Studies , Hernia, Inguinal/diagnosis , Hernia, Inguinal/epidemiology , Humans , Male , Middle Aged , Retrospective Studies , Risk Factors , Taiwan/epidemiology , Young Adult
5.
Mod Rheumatol ; 32(6): 1108-1113, 2022 Oct 15.
Article in English | MEDLINE | ID: mdl-34850910

ABSTRACT

OBJECTIVES: Multisystem inflammatory syndrome in children (MIS-C) is a rare but severe condition associated with coronavirus disease 2019. Here we aimed to raise awareness for the symptoms of MIS-C in patients with rheumatic diseases, emphasizing the challenges of the differential features. METHODS: We retrospectively evaluated the demographic and clinical characteristics, laboratory and imaging findings, treatments, and outcomes of six MIS-C patients with previous rheumatic disease. RESULTS: Three of the patients had familial Mediterranean fever (FMF), one had juvenile dermatomyositis, one had systemic juvenile idiopathic arthritis (JIA), and another patient had oligoarticular JIA. All FMF patients presented with fever and abdominal pain, two also had chest pain. The patient with systemic JIA presented with fever, rash, and myalgia. All patients had elevated inflammatory markers and high d-dimer levels. Chest imaging of two FMF patients showed infiltrations compatible with pneumonia. One FMF patient had mildly decreased systolic functions with a shortening fraction of 48% in his echocardiography. Intravenous immunoglobulin and methylprednisolone were administered to all patients. Anakinra was given to four patients. CONCLUSIONS: Clinical and laboratory signs of MIS-C may overlap with the findings of various rheumatic diseases, and this may cause a delay in diagnosis.


Subject(s)
Arthritis, Juvenile , COVID-19 , Collagen Diseases , Familial Mediterranean Fever , Rheumatic Diseases , Arthritis, Juvenile/complications , COVID-19/complications , COVID-19/diagnosis , COVID-19 Testing , Child , Collagen Diseases/complications , Familial Mediterranean Fever/drug therapy , Fever , Humans , Immunoglobulins, Intravenous/therapeutic use , Interleukin 1 Receptor Antagonist Protein/therapeutic use , Methylprednisolone/therapeutic use , Retrospective Studies , Rheumatic Diseases/complications , Rheumatic Diseases/diagnosis , Systemic Inflammatory Response Syndrome
8.
Immun Inflamm Dis ; 10(3): e574, 2022 03.
Article in English | MEDLINE | ID: mdl-34953055

ABSTRACT

The management of acquired reactive perforating collagenosis (ARPC) is challenging. Here, we shared two cases of ARPC combined with elderly atopic dermatitis (AD) that did not respond well to conventional treatment but responded well to the monotherapy of dupilumab, which suggests that dupilumab may be an alternative option for the treatment.


Subject(s)
Collagen Diseases , Dermatitis, Atopic , Skin Diseases , Aged , Antibodies, Monoclonal, Humanized/therapeutic use , Collagen Diseases/complications , Collagen Diseases/drug therapy , Dermatitis, Atopic/complications , Dermatitis, Atopic/drug therapy , Humans
9.
Genes (Basel) ; 12(9)2021 09 11.
Article in English | MEDLINE | ID: mdl-34573386

ABSTRACT

Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.


Subject(s)
Eye Diseases, Hereditary/genetics , Glaucoma/etiology , Glaucoma/genetics , Aniridia/genetics , Aniridia/pathology , Collagen Diseases/complications , Collagen Diseases/genetics , Collagen Diseases/pathology , Eye Abnormalities/genetics , Eye Abnormalities/pathology , Eye Diseases, Hereditary/pathology , Glaucoma/pathology , Glaucoma, Angle-Closure/complications , Glaucoma, Angle-Closure/genetics , Glaucoma, Angle-Closure/pathology , Humans , Hyperopia/complications , Hyperopia/genetics , Hyperopia/pathology , Immune System Diseases/complications , Immune System Diseases/genetics , Immune System Diseases/pathology , Metabolic Diseases/complications , Metabolic Diseases/genetics , Metabolic Diseases/pathology , Microphthalmos/complications , Microphthalmos/genetics , Microphthalmos/pathology , Syndrome , Vascular Diseases/complications , Vascular Diseases/genetics , Vascular Diseases/pathology
12.
Rev. cuba. reumatol ; 22(3): e769, tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1144539

ABSTRACT

El síndrome de Marfán es una enfermedad que integra el grupo de las llamadas colagenopatías no autoinmunes. Etiológicamente consiste en la mutación del gen que codifica la fibrilina 1, que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera diversas manifestaciones clínicas por trastornos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). Se presenta un paciente de 43 años de edad, de raza negra, que llegó a la edad adulta sin un diagnóstico de la enfermedad. Incidentalmente sospechamos el diagnóstico al tratar una neumonía adquirida en la comunidad. Se trató su cuadro de neumonía con piperacilina y tazobactam por 7 días. Se recomendó la valoración por parte de cirugía cardiovascular por hallazgos de aneurisma de la aorta ascendente, pero el paciente decidió no continuar con los estudios de su enfermedad. Se aconsejó cambios en el estilo de vida y ejercicios físicos y se diagnosticó alta probabilidad de muerte por el problema vascular descrito(AU)


Marfan's syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia(AU)


Subject(s)
Humans , Male , Adult , Aortic Aneurysm/prevention & control , Marfan Syndrome/drug therapy , Marfan Syndrome/diagnostic imaging , Signs and Symptoms , Collagen Diseases/complications , Colombia , Life Style
14.
An. bras. dermatol ; 95(3): 336-339, May-June 2020. graf
Article in English | LILACS, Coleciona SUS | ID: biblio-1130869

ABSTRACT

Abstract Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.


Subject(s)
Humans , Male , Aged , Prostatic Neoplasms/complications , Skin Diseases/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Adenocarcinoma/complications , Graves Disease/complications , Collagen Diseases/complications , Skin Diseases/pathology , Collagen , Collagen Diseases/pathology
15.
An Bras Dermatol ; 95(3): 336-339, 2020.
Article in English | MEDLINE | ID: mdl-32359703

ABSTRACT

Acquired reactive perforating collagenosis is a rare skin disorder characterized by the presence of umbilicated pruritic papules and nodules. Transepidermal elimination of altered and perforating bundles of basophilic collagen from the epidermis is a characteristic histologic feature of acquired reactive perforating collagenosis. Along with its well-known association with systemic diseases such as diabetes mellitus, chronic renal failure, and dermatomyositis, there are reports of acquired reactive perforating collagenosis being associated with malignancies. Herein, we present a case of acquired reactive perforating collagenosis associated with chronic lymphocytic leukemia, prostate adenocarcinoma, and Graves's disease. Clinicians are required to be more vigilant in evaluating patients with acquired reactive perforating collagenosis due to its unique association with malignancies and other systemic diseases.


Subject(s)
Adenocarcinoma/complications , Collagen Diseases/complications , Graves Disease/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Prostatic Neoplasms/complications , Skin Diseases/complications , Aged , Collagen , Collagen Diseases/pathology , Humans , Male , Skin Diseases/pathology
17.
Circ J ; 83(3): 662-671, 2019 02 25.
Article in English | MEDLINE | ID: mdl-30726805

ABSTRACT

BACKGROUND: Many patients with collagen disease (CD), particularly scleroderma (SSc), develop critical limb ischemia (CLI), which leads to limb amputation. However, conventional therapies, including revascularization via surgical bypass, showed poor outcomes in CLI patients with CD. Many CLI patients with SSc showed poor responses to combination therapies including intravenous iloprost, PDE-5 inhibitors, and bosentan. Therefore, new methods of improving the peripheral circulation for limb salvage are required. This study was a subanalysis of the long-term clinical outcomes after autologous bone marrow-derived mononuclear cells (BM-MNC) in CLI patients with SSc. Methods and Results: We assessed no-option CLI patients with CD who underwent BM-MNC implantation at 10 institutes; 69 patients (39 with SSc-related diseases (SSc group) and 30 with other CDs (non-SSc group)), were included. The median follow-up duration was 36.5 months. The 10-year overall survival rate was 59.1% in the SSc group and 82.4% in the non-SSc group. The 10-year major amputation-free rates were 97.4% and 82.6%, respectively. The number of major or minor amputations in the SSc group trended to be less than that in the non-SSc group. Significant improvements in visual analog scale scores were observed in both groups. CONCLUSIONS: The BM-MNC implantation may be feasible in no-option CLI patients with CD. In the SSc group, limb salvage rate tended to be higher than in the non-SSc group.


Subject(s)
Collagen Diseases/therapy , Extremities/pathology , Ischemia/therapy , Leukocytes, Mononuclear/transplantation , Scleroderma, Systemic/therapy , Transplantation, Autologous/methods , Adult , Aged , Amputation, Surgical/statistics & numerical data , Bone Marrow Transplantation/methods , Collagen Diseases/complications , Female , Humans , Ischemia/complications , Limb Salvage/statistics & numerical data , Male , Middle Aged , Neovascularization, Physiologic , Retrospective Studies , Surveys and Questionnaires , Treatment Outcome
18.
Mod Rheumatol ; 29(3): 547-550, 2019 May.
Article in English | MEDLINE | ID: mdl-27846744

ABSTRACT

A 55-year-old man with rheumatoid arthritis (RA) presented hyperkeratotic erythematous papules with crusts or blisters on his limbs and buttocks. A histological study showed acquired reactive perforating collagenosis. Soon, skin lesions changed to umbilicated lesions with black necrosis, and the scar from his skin biopsy ulcerated with induration due to rheumatoid vasculitis. Systemic corticosteroids and tacrolimus administration resolved the RA and skin lesions. Rheumatoid vasculitis with acquired reactive perforating collagenosis has not been reported previously.


Subject(s)
Collagen Diseases/pathology , Rheumatoid Vasculitis/pathology , Adrenal Cortex Hormones/therapeutic use , Antirheumatic Agents/therapeutic use , Collagen Diseases/complications , Collagen Diseases/drug therapy , Humans , Male , Middle Aged , Rheumatoid Vasculitis/drug therapy , Skin/pathology , Tacrolimus/therapeutic use
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