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Disease relevance of Angiokeratoma


High impact information on Angiokeratoma

  • Angiokeratoma corporis diffusum with glycopeptiduria is a recently recognized inborn error of glycoprotein catabolism resulting from the deficient activity of human alpha-N-acetylgalactosaminidase (E.C.; alpha-GalNAc) [6].
  • Skin examination showed numerous angiokeratoma, which had developed only on the right part of the body, with a sharp delineation in the midline of the trunk [7].
  • Fabry disease (FD) (angiokeratoma corporis diffusum) is an X-linked inborn error of glycosphingolipid metabolism caused by defects in the lysosomal alpha-galactosidase A gene (GLA) [8].
  • We report a 29-year-old woman who had prominent cutaneous markers of tuberous sclerosis, with subependymal nodules and renal cysts on computerized tomographic scan, who also showed multiple angiokeratomas widely distributed on the buttocks and posterior thighs [9].
  • Carbon-dioxide laser is a known alternative for treating angiokeratomas [10].

Chemical compound and disease context of Angiokeratoma

  • Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions [11].
  • Angiokeratoma Fordyce of the glans penis: combined treatment with erbium: YAG and 532 nm KTP (frequency doubled neodynium: YAG) laser [12].
  • A female case of angiokeratoma corporis diffusum without systemic involvement, with alpha-galactosidase A activity in the normal range, alpha-L-fucosidase in the lower levels of the normal range, and a few amount of urinary sialic acid is reported [13].

Gene context of Angiokeratoma


  1. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Nance, C.S., Klein, C.J., Banikazemi, M., Dikman, S.H., Phelps, R.G., McArthur, J.C., Rodriguez, M., Desnick, R.J. Arch. Neurol. (2006) [Pubmed]
  2. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? Bakker, H.D., de Sonnaville, M.L., Vreken, P., Abeling, N.G., Groener, J.E., Keulemans, J.L., van Diggelen, O.P. Eur. J. Hum. Genet. (2001) [Pubmed]
  3. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients. Navarro, C., Teijeira, S., Dominguez, C., Fernandez, J.M., Rivas, E., Fachal, C., Barrera, S., Rodriguez, C., Iranzo, P. Acta Neuropathol. (2006) [Pubmed]
  4. Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. Meyer, W.R., Dotters, D.J. Obstetrics and gynecology. (1996) [Pubmed]
  5. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Uchino, Y., Fukushige, T., Yotsumoto, S., Hashiguchi, T., Taguchi, H., Suzuki, N., Konohana, I., Kanzaki, T. Br. J. Dermatol. (2003) [Pubmed]
  6. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. Wang, A.M., Kanzaki, T., Desnick, R.J. J. Clin. Invest. (1994) [Pubmed]
  7. Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions. Germain, D.P. Clin. Genet. (2001) [Pubmed]
  8. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Germain, D.P., Poenaru, L. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  9. Widespread angiokeratomas and tuberous sclerosis. Gil-Mateo, M.P., Miquel, F.J., Velasco, A.M., Pitarch, A., Fortea, J.M., Aliaga, A. Br. J. Dermatol. (1996) [Pubmed]
  10. Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. del Pozo, J., Fonseca, E. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]. (2005) [Pubmed]
  11. A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Schindler, D., Kanzaki, T., Desnick, R.J. Clin. Chim. Acta (1990) [Pubmed]
  12. Angiokeratoma Fordyce of the glans penis: combined treatment with erbium: YAG and 532 nm KTP (frequency doubled neodynium: YAG) laser. Bechara, F.G., Jansen, T., Wilmert, M., Altmeyer, P., Hoffmann, K. J. Dermatol. (2004) [Pubmed]
  13. Angiocheratoma corporis diffusum with normal enzyme activities. Pravatà, G., Noto, G., Aricò, M. Giornale italiano di dermatologia e venereologia : organo ufficiale, Società italiana di dermatologia e sifilografia. (1990) [Pubmed]
  14. A case of angiokeratoma circumscriptum: immunolocalization of matrix metalloproteinase (MMP)-9. Kobayashi, T., Sakuraoka, K. J. Dermatol. (1998) [Pubmed]
  15. Angiokeratoma corporis circumscriptum naeviforme with transepidermal elimination. Miwa, N., Kobayashi, T., Kanzaki, T., Tsuji, T. J. Dermatol. (1993) [Pubmed]
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