• Angiokeratoma corporis diffusum is the cutaneous hallmark of Fabry disease, an X-linked inherited disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A. Decreased or absent enzyme activity causes uncleaved glycosphingolipids to accumulate in various cell types, particularly in the vascular endothelium, smooth muscle cells, and pericytes, causing ischemia and infarction of tissues. (medscape.com)
  • Angiokeratomas in Fabry disease typically appear in childhood or adolescence and present as small red-to-black papules that most commonly affect the bathing trunk area (buttocks, groin, umbilicus, upper thighs), although almost any area of the body can be involved. (medscape.com)
  • A high index of suspicion for Fabry disease should be noted, especially when angiokeratomas are seen with other earlier symptoms of the disease (acroparesthesia, hypohidrosis, or heat intolerance). (medscape.com)
  • Angiokeratoma corporis diffusum is not unique to Fabry disease and has also been documented in several other rare lysosomal storage disorders such as fucosidosis, sialidosis, GM1 gangliosidosis, galactosialidosis, beta-mannosidosis, Kanzaki disease, and aspartylglucosaminuria. (medscape.com)
  • It is also known as Anderson-Fabry disease and angiokeratoma corporis diffusum. (dermnetnz.org)
  • Fabry disease causes clusters of angiokeratomas (small, dark red spots on the skin) and many systemic symptoms due to the deposition of globotriaosylceramide (Gb3) in multiple organs. (dermnetnz.org)
  • Clusters or diffuse angiokeratomas first appearing in young adults must alert physicians to a possible diagnosis of Fabry disease. (dermnetnz.org)
  • In Fabry disease, angiokeratomas are caused by the accumulation of Gb3 in the dermal endothelial cells, which leads to bulge and incompetence of the vessel walls [12]. (dermnetnz.org)
  • Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms. (news-medical.net)
  • Onder het angiokeratoma Fordyce (angiokeratoma scrotale Fordyce-Sutton, angiokeratoma corporis circumscriptum scrotale v. Fordyce) wordt verstaan angiomen met een hyperkeratotisch oppervlak, aan scrotum, glans of labia majora, vooral op oudere leeftijd voorkomend. (huidziekten.nl)
  • Angiokeratoma circumscriptum is a birthmark with a higher incidence in females and may change in appearance over time. (contourderm.com)
  • Amongst the several variants of angiokeratomas, angiokeratoma circumscriptum is the least common one. (cdlib.org)
  • Angiokeratoma circumscriptum naeviforme (ACN) is a still rarer type of angiokeratoma, which is typically seen at birth. (cdlib.org)
  • Based on the clinical presentation and evolution, the current classification of angiokeratomas includes solitary and multiple angiokeratoma, angiokeratoma of Fordyce, angiokeratoma of Mibelli, angiokeratoma circumscriptum, and angiokeratoma corporis diffusum [ 1 , 2 , 3 ]. (cdlib.org)
  • Angiokeratoma circumscriptum, the rarest variant [ 1 , 3 ], is clinically characterized by dark red to blue-black nodules or plaques that are typically situated unilaterally on the lower legs or feet. (cdlib.org)
  • Angiokeratoma circumscriptum naeviforme (ACN) is a still rarer variant of angiokeratoma, classically present since birth [ 4 ]. (cdlib.org)
  • Based on the clinical and histopathological features, a diagnosis of angiokeratoma circumscriptum naeviforme was made. (cdlib.org)
  • De naam Fordyce is ook verbonden aan ectopische talgklieren (Fordyce condition) en aan miliaria apocrina (ziekte van Fox-Fordyce) . (huidziekten.nl)
  • Angiokeratoma of Fordyce is more common in men and presents as multiple lesions on the scrotum or vulva. (contourderm.com)
  • Angiokeratoma of Mibelli is most common in young females and typically appears as one or multiple lesions on the fingers and toes. (contourderm.com)
  • Juvenile fucosidosis ( type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. (dictionary.net)
  • Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al. (nih.gov)
  • Angiokeratomas are benign vascular skin lesions composed of dilated capillaries. (contourderm.com)
  • Angiokeratomas are relatively rare vascular lesions characterized by ectasias of the papillary dermal blood vessels with secondary epidermal changes in the form of acanthosis and /or hyperkeratosis. (cdlib.org)
  • Angiokeratomas are relatively rare vascular lesions characterized by dilatations of the papillary dermal blood vessels with secondary epidermal changes of acanthosis and /or hyperkeratosis [ 1 ]. (cdlib.org)
  • The accumulation of glycolipid causes noncancerous (benign) skin growths (angiokeratomas) to form on the lower part of the trunk. (msdmanuals.com)
  • Almost all angiokeratomas are benign and require no treatment. (contourderm.com)
  • Angiokeratoma corporis diffusum is a symptom of Farby syndrome - a rare but serious genetic condition. (contourderm.com)
  • More than one-third of patients also develop angiokeratomas and telangiectasia on the lips and inside the mouth [13]. (dermnetnz.org)
  • Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency with angiokeratoma corporis diffusum (AKCD) is one of the lysosomal storage diseases. (nih.gov)
  • an inherited disorder of metabolism, caused by deficiency of alpha-galactosidase A, which causes angiokeratomas, acroparesthesias, corneal opacities, recurrent febrile episodes, and renal or heart failure. (msdmanuals.com)
  • Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. (medscape.com)
  • Lu YY, Lu CC, Wu CS, Wu CH. Familial angiokeratoma corporis diffusum without identified enzyme defect. (medscape.com)
  • Diagnosis in males is clinical, based on appearance of typical skin lesions (angiokeratomas) over the lower trunk and by characteristic features of peripheral neuropathy (causing recurrent burning pain in the extremities), corneal opacities, and recurrent febrile episodes. (msdmanuals.com)
  • APPROACH: APPROACH: A 27-year-old male patient diagnosed with angiokeratoma corporis diffusum (ACD) by skin tissue biopsy has undergone pulsed dye laser for times, but the result was unsatisfying. (bvsalud.org)
  • Kelly B, Kelly E. Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. (medscape.com)
  • Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. (childrensmercy.org)