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Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease.The British Journal of Oral &... Nov 2019Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations...
Fabry disease and Pompe disease are rare lysosomal storage disorders that belong to a heterogeneous group of more than 200 distinct inborn metabolic diseases. Mutations followed by loss of function of enzymes or transporters that are localised in the acidic environment of the lysosome may result in degradation of many substrates, such as glycosaminoglycans, glycosphingolipids, glycogen, cholesterol, oligosaccharides, glycoproteins, and peptides, or the excretion of the products degraded by the lysosome. Our aim was to identify the oral signs and symptoms of Fabry disease and Pompe disease from a systematic review made using MEDLINE/PubMed, and a hand search for relevant articles, following the PRISMA guidelines. Both diseases show various craniofacial and oral changes, including supernumerary teeth, dental agenesis, angiokeratoma, and telangiectases in Fabry disease; and macroglossia, teeth fusion, and taurodontism in Pompe disease. Common clinical signs of Fabry disease include hyposalivation, hypohidrosis, and xerophthalmia, and a generally reduced physical resilience was apparent in patients with Pompe disease. Oral and craniofacial changes in patients with both diseases extend over their entire lifetime and can be detected even in an infant. Lysosomal storage diseases should be taken into consideration in the differential diagnosis of relevant diverse symptoms, because treatment, when available, is most effective when started early. The main therapeutic concepts are enzymatic replacement for Pompe disease, whereas patients with Fabry disease require additional oral chaperone treatment or enzyme replacement.
Topics: Disease Progression; Fabry Disease; Glycogen Storage Disease Type II; Humans; Lysosomal Storage Diseases; Mutation
PubMed: 31405600
DOI: 10.1016/j.bjoms.2019.07.018 -
Journal of Cutaneous Medicine and... 2019There is a paucity of prevalence data for genital angiokeratomas in adults. The objective of this article is to determine prevalence of genital angiokeratomas in adults...
INTRODUCTION
There is a paucity of prevalence data for genital angiokeratomas in adults. The objective of this article is to determine prevalence of genital angiokeratomas in adults as a function of sex, age, and race/ethnicity.
METHODS
A cross-sectional study was conducted over 11 months during 2013 and 2014 using a convenience sample of adult men and women consenting to genital examination during melanoma screening and surveillance by a senior dermatologist in an outpatient clinic. The analysis was conducted from April through December 2016.
RESULTS
Of 213 white/European American adults examined (127 men and 86 women), genital angiokeratomas were detected in 30.0% (64/213). Presence of at least one genital angiokeratoma was significantly associated with male sex (odds ratio [OR], 2.4; 95% confidence interval [CI], 1.3-4.5; < .001) and age older than 50 years (OR, 3.4; 95% CI, 1.7-6.7; = .008).
CONCLUSIONS
Genital angiokeratomas are relatively common in adults of white/European American origin and important to recognize because of their benign nature and occasional confusion with other tumors.
Topics: Adult; Age Factors; Aged; Aged, 80 and over; Angiokeratoma; Cross-Sectional Studies; Female; Genitalia, Female; Genitalia, Male; Humans; Male; Middle Aged; Prevalence; Risk Factors; Sex Factors; Skin Neoplasms; Young Adult
PubMed: 31257909
DOI: 10.1177/1203475419861072 -
Pediatric Dermatology 2023
Topics: Humans; Male; Skin; Skin Neoplasms; Skin Abnormalities
PubMed: 37212734
DOI: 10.1111/pde.15236 -
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 -
Dentistry Journal Jan 2022Oral angiokeratoma is a rare vascular lesion that has various clinical presentations. It usually occurs as part of generalized angiokeratoma and rarely appears as a...
Oral angiokeratoma is a rare vascular lesion that has various clinical presentations. It usually occurs as part of generalized angiokeratoma and rarely appears as a solitary lesion with no underlying systemic diseases. Only 33 cases were reported so far worldwide. In this case report, we present a rare case of isolated solitary oral angiokeratoma in a 22-year-old female patient, which is the first case to be reported in the labial mucosa that has been treated successfully by surgical excision.
PubMed: 35200243
DOI: 10.3390/dj10020017 -
Journal of Human Genetics Sep 2019Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase (Gal) A gene (GLA; MIM:300644). The reduced... (Clinical Trial)
Clinical Trial
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase (Gal) A gene (GLA; MIM:300644). The reduced activity of the lysosomal enzyme, α-galactosidase A (α-Gal A) leads to classic early manifestations and vascular disease of the heart, kidneys, and brain. As a high-risk screening for symptomatic AFD using an enzymatic assay on dried blood spot samples, we enrolled 2325 individuals (803 females and 1522 males; median age: 66 years) with cardiac, renal, or neurological manifestations that met at least one of the following criteria: (a) family history of early-onset cardiovascular diseases; (b) typical classic manifestations, such as acroparesthesias, clustered angiokeratoma, cornea verticillata, and hypo-anhidrosis; (c) proteinuria; (d) receiving dialysis; (e) left ventricular hypertrophy on electrocardiography or echocardiography; or (f) history of stroke. Ninety-two patients displayed low α-Gal A activity. Four males and two females had different pathogenic GLA mutations (0.26%) including a novel mutation c.908-928del21. Four males (0.17%) harbored the GLA c.196G>C (p.E66Q) variant. This simple screening protocol using dried blood spot samples is useful for early diagnosis of AFD in high-risk and underdiagnosed patients suffering from various cardiac, renal, or neurological manifestations.
Topics: Aged; Echocardiography; Electrocardiography; Fabry Disease; Female; Genetic Testing; Humans; Hypertrophy, Left Ventricular; Male; Middle Aged; Mutation; Stroke; alpha-Galactosidase
PubMed: 31213654
DOI: 10.1038/s10038-019-0633-1 -
Journal of Pediatric Endocrinology &... Jun 2023GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by beta-galactosidase deficiency encoded by GLB1. It is mainly characterized...
OBJECTIVES
GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by beta-galactosidase deficiency encoded by GLB1. It is mainly characterized by progressive neurodegeneration due to accumulation of glycosphingolipids in central nervous system and classified into 3 forms according to the age of onset and severity of symptoms.
CASE PRESENTATION
In this study, we described the demographic, clinical, molecular, biochemical characteristics of 4 patients from 3 unrelated families diagnosed with GM1-gangliosidosis. The ages of the patients included in the study were between 5 months and 10 years old and all were male. All families had third degree consanguinity. Two of the patients were diagnosed as infantile type and the other two siblings were diagnosed as juvenile type. Infantile type patients had coarse facial appearance, developmental delay and early neurodegeneration. Juvenile type patients had mild motor and cognitive developmental delays at the beginning, but they did not have coarse facial features. Cherry-red macula and cardiac involvement were detected in only one infantile patient, while hepatomegaly was present in both infantile type patients. Beta galactosidase enzyme levels were extremely low in all patients and two novel variants were identified in GLB1.
CONCLUSIONS
In this study, we identified four patients with different phenotypic features and two new mutations. GM1 gangliosidosis shows clinical heterogeneity according to age of onset. In some patients, developmental delay can be seen before the loss of gained functions. Therefore, this disorder should be kept in mind in patients with developmental delay who have not yet started neurodegeneration. There is no curative treatment for the disease yet, but ongoing gene therapy studies are promising for curing the disease in the future.
Topics: Humans; Male; Female; Gangliosidosis, GM1; G(M1) Ganglioside; Mutation; Lysosomal Storage Diseases
PubMed: 37042746
DOI: 10.1515/jpem-2022-0630 -
Cureus Mar 2024Angiokeratoma is a vascular cutaneous disorder that is generally asymptomatic and presents with multiple dark red to blue or black papules over the skin. The prevalence...
Angiokeratoma is a vascular cutaneous disorder that is generally asymptomatic and presents with multiple dark red to blue or black papules over the skin. The prevalence of angiokeratoma increases as the age increases and it is more common after third and fourth decades of life. There are different types of angiokeratoma which may be localized forms (angiokeratoma of Mibelli, angiokeratoma circumscriptum, solitary angiokeratoma, and angiokeratoma of the scrotum or vulva) or diffuse variant (angiokeratoma corporis diffusum). Here, we report a series of five rare cases of angiokeratoma of Fordyce, of which two cases had vulval involvement and one case showed lesions on unilateral scrotal wall which was unusual.
PubMed: 38650812
DOI: 10.7759/cureus.56757 -
Journal of Cutaneous Pathology Mar 2022Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However,...
Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSDs) have also been identified as triggers of ACD. Generalized vasculopathy is an important pathogenetic factor in FD and may also lead to the acroparesthesia (AP) often predominant in FD. We report on an 85-year-old woman with ACD present since her youth and associated with severe AP. Ultrastructure of the dermal lesion showed no lysosomal involvement, but the absence of the basement membrane of the endothelial cells of the capillary vessels was noteworthy. Repeated analyses of the GLA gene revealed no evidence of FD. Whole-exome sequencing was negative for FD and other LSDs, and allowed us to also study FD-related intronic regions of the GLA gene. This is the first report of a patient with FD-like ACD with an endothelial abnormality, otherwise unexplained vasculopathy and severe AP, which are not due to FD or another LSD. Based on family history, another genetic, yet unidentified, defect may cause the disease in this patient. In unexplained ACD, extended genetic analysis is required to exclude particular pathogenic variants of the GLA gene and other genes.
Topics: Aged, 80 and over; Basement Membrane; Endothelial Cells; Fabry Disease; Female; Humans; Paresthesia; Exome Sequencing; alpha-Galactosidase
PubMed: 34672003
DOI: 10.1111/cup.14154 -
Skin Health and Disease Feb 2023
PubMed: 36751317
DOI: 10.1002/ski2.135