The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement

“…1,12,13 In contrast, a much lower proportion of females suffer progressive renal dysfunction to the point of end-stage renal disease or transplantation. 14 Kidney outcome may be more directly related to interstitial and glomerular fibrosis and scarring rather than GL-3 deposits in parietal and visceral glomerular epithelial cells; epithelial Table 1 Pathophysiologic findings in Fabry disease Organ system Cell types potentially affected by GL-3 deposits Spectrum of pathophysiologic findings Kidney Podocytes, mesangium, glomerular endothelium, epithelium of Bowman's capsule, loops of Henle and distal tubule, arterial and arteriolar smooth muscle and endothelium, interstitial cells 11,92 Glomerular sclerosis, tubular atrophy, interstitial fibrosis 13,92 Cardiac Cardiomyocytes, conduction system cells, vascular endothelial and smooth muscle cells, valvular fibrocytes 93 LV-hypertrophy; heart failure; stenosis or diffuse narrowing of epicardial vessels; atherosclerotic plaques; coronary vasospasm; thrombotic and thromboembolic complications 9,10 Neurologic Neurovascular endothelial cells, vasa vasorum, neurons within central and peripheral nervous system, including dorsal root and autonomic ganglia 94,95 Ischemic injury (prothrombotic and occlusive abnormalities) and metabolic failure resulting in: Functional disruption of neuronal cells, loss of small myelinated and unmyelinated fibers; ischemic small vessel multifocal leukoencephalopathy; large vessel ectasia 51,78,94 Dermatologic Vascular endothelial cells, smooth muscle cells, fibroblasts, perineurium, eccrine sweat glands, including epithelium 64,96,97 Weakening of capillary wall and vascular ectasia within (epi-)dermis; narrowing of small blood vessels around the eccrine sweat glands 64,65,98 Ophthalmologic Epithelial cells in the cornea, lens, 72 vascular endothelial cells 75 Streaks in corneal epithelium; vasculopathy of the conjunctival and retinal vessels; central retinal artery occlusion; reduced lacrimal secretion 75,78 Pulmonary Airway epithelial cells, vascular endothelial cells, smooth muscle cells …”

“…Angiokeratomas, caused by weakening of the capillary wall and vascular ectasia within the epidermis and dermis, 64,65 are one of the earliest clinical signs and may be seen in both genders. They usually manifest between 5 and 13 years of age.…”

Doença de Fabry

“…4,5 Propõe-se que a hipoidrose ou anidrose seja secundária ao dano seletivo de nervos autônomos, ao depósito de GL-3 nos ácinos sudoríparos e/ou à isquemia devida ao comprometimento dos vasos sanguíneos que nutrem tanto os nervos autônomos quanto as glândulas sudoríparas. [29][30][31] Existem relatos de doentes com DF que apresentam hiperidrose, especialmente palmoplantar, que parece ser mais comum do que previamente acreditado, e mais prevalente nas mulheres. 16,[32][33][34] O pelo corporal pode ser acometido na DF na forma de hipotricose corporal difusa, pelo depósito direto de GL-3 nos folículos pilosos como também por alteração vascular de sua irrigação.…”

Fabry Disease

“…Hypohidrosis or anhidrosis usually presents in childhood or adolescence and is thought to be due to selective peripheral nerve damage, 39 lipid deposits in the small blood vessels surrounding sweat glands, 40 or lipid accumulation in the eccrine cells. 23 It leads to dry skin and intolerance to heat and exercise.…”