Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss. Prompt diagnosis and enzyme replacement therapy are crucial for managing FD. Otolaryngologists play a key role in early detection and intervention. This case underscores the importance of considering FD in cases of hearing loss, tinnitus, or vertigo, emphasizing the need for heightened awareness among healthcare providers.

UNASSIGNED: Fordyce angiokeratoma, a benign tiny lesion usually on the scrotum, increases with age and may cause symptoms like itching and bleeding in nearly half of the cases. Although treatment is not always necessary, it is primarily considered for cosmetic reasons in the case of larger or atypical lesions.
UNASSIGNED: We present the case of a healthy adult male with multiple large red-blue hyperkeratotic nodules and papules on his scrotal skin, causing bleeding upon minor trauma and personal embarrassment. After confirming the diagnosis of angiokeratomas of the scrotum through histopathology, the patient underwent two sessions of Long-Pulse Alexandrite Laser treatment, resulting in a 90% reduction in lesions, no scrotal bleeding, and a satisfactory cosmetic outcome.
UNASSIGNED: The Long-Pulse Alexandrite Laser is a precise and effective treatment for vascular lesions, like angiokeratomas, offering customizable parameters. However, patient-specific factors and careful evaluation are essential, recognizing the laser\'s limitations for optimal results.

Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affected patients have slow neurologic deterioration. Many patients die young and the long-term clinical outcomes in adult patients are poorly documented. Here, we report the long-term follow up of two Caucasian siblings, a 31-year-old man and 25-year-old woman. We describe the clinical, biochemical, radiological and genetic findings in two siblings affected by Fucosidosis and the differences between them after 19-years follow up. The dermatological features of the younger sibling have been reported previously by Bharati et al. (2007). Both patients have typical features of Fucosidosis, such as learning difficulties, ataxia, and angiokeratomas with differing severity. Case 1 presents severe ataxia with greater limitation of mobility, multiple dysostoses, angiokeratomas on his limbs, retinal vein enlargement and increased tortuosity in the eye and gastrointestinal symptoms. Biochemical analysis demonstrated a deficiency of alpha-fucosidase in leucocytes. Case 2 has a greater number of angiokeratomas and has suffered three psychotic episodes. The diagnosis of Fucosidosis was confirmed in cultured skin fibroblast at the age of 12 years. Molecular analysis of the FUCA1 gene showed a heterozygous mutation c.998G > A p.(Gly333Asp), with a pathogenic exon 4 deletion in the other allele in both patients. Conclusion. Fucosidosis presents a wide clinical heterogeneity and intrafamilial variability of symptoms. Psychosis and gastrointestinal symptoms have not been reported previously in Fucosidosis.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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; P < .001) and age older than 50 years (OR, 3.4; 95% CI, 1.7-6.7; P = .008).
UNASSIGNED: 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.

暂无摘要。

Fabry disease results from deficient activity of the enzyme α-galactosidase A and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The main neurological presentations of Fabry disease patients are painful neuropathy, hypohidrosis, and stroke. Fabry neuropathy is characterized as a length-dependent peripheral neuropathy affecting mainly the small myelinated (Aδ) fibers and unmyelinated (C) fibers. Enzyme replacement therapy (ERT) has been shown to have some positive effects on the reduction of neuropathic pain, the improvement of detection threshold for thermal sensation, and sweat function. On the contrary, the effect of ERT on the central nervous system has not been established. Early initiation of ERT before irreversible organ failure is extremely important, and alternative therapeutic approaches are currently being explored. Heterozygotes suffer from peripheral neuropathy at a higher rate than previously shown, significant multisystemic disease, and severely decreased quality of life. As well as being carriers, heterozygotes also display symptoms of Fabry disease, and should be carefully monitored and given adequate therapy.

Fabry\'s disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A (alpha-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry\'s disease.