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Cardiovascular Diagnosis and Therapy Apr 2021Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in... (Review)
Review
Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb) and globotriaosylsphingosine (lysoGb). The classical form of FD is multisystemic with cutaneous (angiokeratomas), neurological (peripheral neuropathy, premature stroke), renal (proteinuria and renal insufficiency), and cardiac involvement. Later onset variants may be limited to the heart. The objective of this review is to summarize the current knowledge on cardiac manifestations of FD and effects of targeted therapy. Cardiac involvement is characterized by progressive hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death (SCD). Targeted therapy is based on enzyme replacement therapy (ERT). Recently, small molecular chaperone, migalastat, became available for patients carrying amenable pathogenic GLA variants. The management of cardiac complications requires a complex approach. Several measures differ from standard clinical guidelines. Betablockers should be used with caution due to bradycardia risk, amiodarone avoided if possible, and anticoagulation used from the first appearance of atrial fibrillation. In Fabry cardiomyopathy SCD calculators are inappropriate. The awareness of FD manifestations is essential for early identification of patients and timely treatment initiation.
PubMed: 33968642
DOI: 10.21037/cdt-20-593 -
Kidney International Reports Apr 2020Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme α-galactosidase (α-GAL). This in turn leads to the buildup... (Review)
Review
Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme α-galactosidase (α-GAL). This in turn leads to the buildup of globotriaosylceramide, resulting classically in progressive kidney disease, peripheral neuropathy, early-onset cerebrovascular disease, gastrointestinal symptoms, hypertrophic cardiomyopathy, arrhythmias, corneal whorls, and angiokeratomas. The diagnosis of FD relies on identification of a low α-GAL enzyme activity, identification of a genetic mutation, or histologic evidence of disease. With more than 900 mutations identified, there is phenotypic variability deriving from both mutational effects as well as the effect of skewed X-inactivation in females. Treatment of this disease has relied on intravenous replacement of the deficient enzyme with agalsidase α or agalsidase β. However, treatment options for some patients with FD have recently expanded, with the approval of migalastat, an oral molecular chaperone. In addition to chaperone-based therapies, there are several additional therapies under development that could substantially reshape treatment options for patients with FD. Four approaches to gene therapy, through both and methods, are under development. Another approach is through the administration of α-GAL mRNA to help stimulate production of α-GAL, which is another unique form of therapy. Finally, substrate reduction therapies act as inhibitors of glucosylceramide synthase, thus inhibiting the production of GB-3, promise another oral option to treat FD. This article will review the literature around current therapies as well as these newer therapeutics agents in the pipeline for FD.
PubMed: 32274449
DOI: 10.1016/j.ekir.2019.11.013 -
Indian Journal of Dermatology,... Mar 2024
PubMed: 38595012
DOI: 10.25259/IJDVL_1225_2023 -
Proceedings (Baylor University. Medical... 2022An angiokeratoma is a benign vascular lesion that appears as one or more red to black papules with a verrucous surface. Histologically, it is defined by ectatic,...
An angiokeratoma is a benign vascular lesion that appears as one or more red to black papules with a verrucous surface. Histologically, it is defined by ectatic, thin-walled vessels in the papillary dermis, acanthosis with elongated rete ridges, and compact hyperkeratosis. Solitary angiokeratoma is one of five defined subtypes of angiokeratoma. We report the case of an 18-year-old woman with a "wart" that had been present for many years. After treatment with several over-the-counter wart therapies, several rounds of paring plus cryotherapy, and antigen injections failed, a shave biopsy was taken to remove the lesion, and histopathologic examination was consistent with an angiokeratoma. This case demonstrates the importance of considering angiokeratoma in the differential diagnosis of a wart, particularly one recalcitrant to treatment.
PubMed: 35754585
DOI: 10.1080/08998280.2022.2068945 -
Indian Dermatology Online Journal 2023
PubMed: 36776176
DOI: 10.4103/idoj.idoj_186_22 -
Scientific Reports Mar 2022High-resolution millimeter-wave imaging (HR-MMWI), with its high discrimination contrast and sufficient penetration depth, can potentially provide affordable tissue...
High-resolution millimeter-wave imaging (HR-MMWI), with its high discrimination contrast and sufficient penetration depth, can potentially provide affordable tissue diagnostic information noninvasively. In this study, we evaluate the application of a real-time system of HR-MMWI for in-vivo skin cancer diagnosis. 136 benign and malignant skin lesions from 71 patients, including melanoma, basal cell carcinoma, squamous cell carcinoma, actinic keratosis, melanocytic nevi, angiokeratoma, dermatofibroma, solar lentigo, and seborrheic keratosis were measured. Lesions were classified using a 3-D principal component analysis followed by five classifiers including linear discriminant analysis (LDA), K-nearest neighbor (KNN) with different K-values, linear and Gaussian support vector machine (LSVM and GSVM) with different margin factors, and multilayer perception (MLP). Our results suggested that the best classification was achieved by using five PCA components followed by MLP with 97% sensitivity and 98% specificity. Our findings establish that real-time millimeter-wave imaging can be used to distinguish malignant tissues from benign skin lesions with high diagnostic accuracy comparable with clinical examination and other methods.
Topics: Diagnosis, Differential; Humans; Keratosis, Actinic; Keratosis, Seborrheic; Melanoma; Nevus, Pigmented; Skin Diseases; Skin Neoplasms
PubMed: 35322133
DOI: 10.1038/s41598-022-09047-6 -
Clinical and Experimental Dermatology Dec 2021Linear lesions are fairly common in our daily practice. However, the appearance of these lesions can vary, thus complicating the diagnosis. (Observational Study)
Observational Study
BACKGROUND
Linear lesions are fairly common in our daily practice. However, the appearance of these lesions can vary, thus complicating the diagnosis.
AIMS
To study the various clinical presentations, the demographic profile of patients and the clinicopathological correlations of dermatoses presenting with a linear distribution.
METHODS
We conducted an institution-based, cross-sectional, descriptive study of 281 consecutive patients with linear lesions attending dermatology clinics. MedCalc software (V11.6) was used for statistical analysis.
RESULTS
Patients were divided into eight groups: lesions along the lines of Blaschko (n = 136), lesions along blood vessels (n = 3), lesions along lymphatics (n = 3), Koebner phenomenon (n = 24), autoinoculation (n = 24), external factors (n = 45), infestations (n = 2) and 'other' (n = 44). The mean age at presentation was 24.50 ± 18.82 years and the male/female ratio was 1.32 : 1. The commonest symptom was itching/burning (56.94% of patients), while the commonest site was the arm (44.48%); followed by the leg (30.60%), trunk and abdomen (22.42%), head and neck (19.20%), and genitalia (0.35%). Apart from the common cases, there was a wide gamut of rare conditions (e.g. angiokeratoma circumscriptum naeviforme, porokeratotic eccrine ostial and dermal duct naevus, Blaschko-linear syringocystadenoma papilliferum, progressive cribriform and zosteriform hyperpigmentation, unilateral naevoid acanthosis nigricans, fixed drug eruption, discoid lupus erythematosus).
CONCLUSION
Linear lesions act as diagnostic clues to many dermatological conditions, therefore, the importance of meticulous examination in clinical dermatology cannot be overemphasized.
Topics: Adolescent; Adult; Child; Cross-Sectional Studies; Diagnosis, Differential; Female; Humans; Male; Pain; Pruritus; Skin Diseases; Young Adult
PubMed: 34022084
DOI: 10.1111/ced.14753 -
Nederlands Tijdschrift Voor... Sep 2021A 41-year-old woman, who was referred with a reddish purple like lesion on the left side of the tongue, appeared to have an angiokeratoma after histopathological...
A 41-year-old woman, who was referred with a reddish purple like lesion on the left side of the tongue, appeared to have an angiokeratoma after histopathological examination. Because of the benign character of this lesion and the absence of any complaints, no adjuvant treatment after excisional biopsy was indicated. Angiokeratomas rarely appear as solitary oral lesions. More often they are seen as part of an underlying systemic disease, mostly Fabry disease. Due to widespread skin involvement of angiokeratomas with Fabry disease, referral to a dermatologist is indicated when oral lesions are encountered. Esthetically unpleasing or painful angiokeratomas can be locally excised or treated by laser- or cryotherapy.
Topics: Adult; Angiokeratoma; Biopsy; Female; Humans; Skin Neoplasms; Tongue
PubMed: 34490767
DOI: 10.5177/ntvt.2021.09.21070 -
Journal of Cutaneous Medicine and... 2020
PubMed: 32208014
DOI: 10.1177/1203475419889041 -
SAGE Open Medical Case Reports 2024A 46-year-old male presented with a 6-year history of progressive, purplish-red, hyperkeratotic papules on the scrotum. These lesions bled during intercourse and routine...
A 46-year-old male presented with a 6-year history of progressive, purplish-red, hyperkeratotic papules on the scrotum. These lesions bled during intercourse and routine activities, causing significant distress. Clinical examination and pathological evaluation confirmed the diagnosis of angiokeratoma of Fordyce. Due to patient preference and cost-effectiveness, sclerotherapy with 3% sodium tetradecyl sulfate was chosen. Following topical anesthesia, the lesions were injected with the sclerosing agent. After two sessions spaced 2 weeks apart, complete resolution of both the smaller and larger lesions was achieved. This case report expands the therapeutic options for angiokeratoma of Fordyce and highlights the successful utilization of 3% sodium tetradecyl sulfate sclerotherapy in achieving complete clearance with minimal invasiveness and cost.
PubMed: 38868664
DOI: 10.1177/2050313X241260492