Widespread angiokeratomas and tuberous sclerosis

British Journal of Dermatology

Volumn 135, Issue 2, 1996, Pages 280-282

  Gil Mateo, M P ^a   Miquel, F J ^a   Velasco, A M ^a   Pitarch, A ^b   Fortea, J M ^a   Aliaga, A ^a  

^a HOSPITAL GENERAL UNIVERSITARIO DE VALENCIA   (Spain)

^b HOSPITAL GENERAL DE CASTELLÓN   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; FABRY DISEASE; FEMALE; HEMANGIOKERATOMA; HUMAN; HUMAN TISSUE; KIDNEY CYST; LYSOSOME STORAGE DISEASE; PRIORITY JOURNAL; SKIN NODULE; SUBEPENDYMOMA; TUBEROUS SCLEROSIS;

EID: 0029982786     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.1996.tb01161.x     Document Type: Article

References (18)

1. Black MM. Angiokeratoma corporis diffusum. In: Rook/Wilkinson/Ebling Textbook of Dermatology (Champion RH, Burton JL, Ebling FJG, eds). 5th edn, Vol. 4. Oxford: Blackwell Scientific Publications. 1992;2344-6.
2. Epinette WW, Norins AL, Drew AL et al. Angiokeratomas corporis diffusum with α-L-fücosidase deficiency. Arch Dermatol 1973; 107: 754-7.
3. Kanzaki T, Wang AM, Desnick RJ. Lysosomal α-N-acetylgalactosaminidase deficiency: the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. J Clin Invest 1991; 88: 707-11.
4. Miyatake T, Atsumi T, Obayashi T et al. Adult-type neuronal storage disease with neuraminidase deficiency. Ann Neurol 1979; 6: 232-44.
5. Ishibashi A, Tsuboi R, Shinmei M. β-galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. Arch Dermatol 1984; 120: 1344-6.
6. Gehler J, Sewell AC, Becker C et al. Clinical and biochemical delineation of aspartylglucosaminuria as observed in two members of an Italian family. Helv Paediatr Acta 1981; 36: 179-89.
7. Wenger DA, Sattler M, Muellere T et al. Adult Gm 1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm 1 gangliosidosis. Clin Genet 1980; 17: 323-4.
8. Holmes RC, Fensom AH, McKee PH et al. Angiokeratoma corporis diffusum in a patient with normal enzyme activities. J Am Acad Dermatol 1984; 10: 384-7.
9. Marsden J, Allen R. Widespread angiokeratomas without evidence of metabolic diseases. Arch Dermatol 1987; 123: 1125-7.
10. Frappaz M, Ferrier MC, Hermier C et al. Angiokeratoma corporis diffusum avec activité enzymatique normale. Ann Dermatol Venereol 1987; 114: 1383-7.
11. Pravatá G, Noto G, Aricó M. Angiocheratoma corporis diffusum with normal enzyme activities. G Ital Dermatol Venereol 1990: 125: 401-3.
12. Gasparini G, Sarchi G, Cavicchini S et al. Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome. Clin Exp Dermatol 1992; 17: 56-9.
13. Calzavara-Pinton P, Colombi M, Carlino A et al. Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. Arch Dermatol 1995; 131: 57-62.
14. Peltier A, Herbeuval E, Brondeau MT et al. Pseudoclinical Fabry's disease without α-galactosidase deficiency. Biomedicine 1977; 26: 194-201.
15. McCallum DI, Macadam RF, Johnston AW. Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. J Med Genet 1980; 17: 21-6.
16. Short MP, Adams RD. Neurocutaneous diseases. In: Dermatology in General Medicine (Fitzpatrick TB, Eisen AZ, Wolff K et al., eds). 4th edn, Vol. 2. New York: McGraw-Hill, 1993; 2249-90.
17. Bell SD, MacDonald DM. The prevalence of café-au-lait patches in tuberous sclerosis. Clin Exp Dermatol 1985; 10: 562-5.
18. The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-15.