The cutaneous stigmata of fabry disease: An X-linked phakomatosis associated with central and peripheral nervous system dysfunction

Archives of Neurology

Volumn 56, Issue 4, 1999, Pages 487-

  Menkes, Daniel L ^a  

^a University Neurologists PSC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; FLUDROCORTISONE ACETATE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE MARKER; FABRY DISEASE; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY; SKIN MANIFESTATION; CENTRAL NERVOUS SYSTEM DISEASE; DIFFERENTIAL DIAGNOSIS; GENETICS; INGUINAL REGION; PATHOLOGY; PERIPHERAL NEUROPATHY; RASH; X CHROMOSOME;

ADULT; CENTRAL NERVOUS SYSTEM DISEASES; DIAGNOSIS, DIFFERENTIAL; EXANTHEMA; FABRY DISEASE; GROIN; HUMANS; MALE; PERIPHERAL NERVOUS SYSTEM DISEASES; X CHROMOSOME;

EID: 0033111047     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.56.4.487     Document Type: Article

References (5)

1. Menkes DL, O'Neil TJ, Saenz KKP. Fabry's disease presenting as syncope angiokeratomas and spoke-like cataracts in a young man: case report and discussion of the differential diagnosis. Mil Med. 1997; 162:773-776.
2. Dvorak AM, Cable WLJ, Osage JE, et al. Diagnostic electron microscopy in Fabry's disease: use of biopsies from uninvolved skin: acute and chronic charges involving the microvasculature and small unmyelinated nerves. Pathol Annu. 1981;16:139-158
3. Brady R. Fabry disease. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 3rd ed. Philadelphia. Pa: WB Saunders; 1993:1169-1178.
4. Imperial R, Helwig EB. Angiokeratoma. A clinicopathologic study. Arch Dermatol. 1967;95:166-175.
5. Eng CM, Desnick RJ. Molecular basis of Fabry's disease: mutations and polymorphisms in the human alpha-galactosidase A gene [review]. Hum Mutat. 1994;3:103-111.