Angiokeratoma Corporis Diffusum

Angiokeratoma corporis diffusum Fabry (Thesaurismosis hereditaria Ruiter-Pompen-Wyers)

“…S w eatin g w as s ta te d to be norm al in 5 p a tie n ts [9,12,30,42], D etails of d istu rb a n c e s in sw eat-p ro d u ctio n by o u r p a tie n ts are d e scribed in th e p reced in g pages. In th e 25-year-old p a tie n t o f Groen, w hom I ex am in ed , b u t who has n o t been described in th is a rtic le , th e b eard w as norm al.…”

“…From th e 47 p a tie n ts d escrib ed in th e lite ra tu re , th is sy m p to m w as presen t in 29 [3,4,5,8,10,12,14,24,25,28,29,30,33,34,37,39,40,41,42,44,54,55,56,58,59,63,64], 4 o th e rs h a d v ague co m plaints [9,20,32,42]. T h e s y m p to m w as s ta te d to be a b se n t in 3 cases [13,18,61] and was not m en tio n ed in 11.…”

“…E d e m a o f th e e x tre m itie s is d escrib ed in 22 p a tie n ts [3,5,8,14,18,20,24,25,28,29,30,34,35,40,41,42,43,56,61,64], 9 o f th e m had also sw ollen eyelids. O ne p a tie n t h ad only som e p e rio rb ita l edem a [9].…”

“…N ine p a tie n ts [9,10,12,13,14,30,40,55,61] seem ed to have no anom alies o f th e h e a rt. In sev eral o f these h o w ev er n o t all necessary m eth o d s o f in v estig atio n h a v e been used.…”

“…I n 10 p a tie n ts [18,20,27,29,30,32,33,37, 63] a n e u ry sm a ta of th e c o n ju n c tiv a l vessels h av e been described. A n o th e r p a tie n t [38] h a d b een d e m o n s tra te d in his 2 6 th y e a r as a case o f angiom atosis w ith in v o lv e m e n t o f th e c o n ju n c tiv a e. T hese c o n ju n c tiv a l angiectasies h a d co m p letely d isa p p e a re d w hen he was reex am in ed 20 years la te r. T h ree p a tie n ts [3,5,40] h a d decidedly no co n ju n c tiv a l sy m p to m s. In m y p a tie n ts th e tw o boys and th e 53-year-old w om an B had no d ila ta tio n s, th e 35-year-old w om an E had tw o little a n e u ry sm a ta , in p a tie n ts A, C a n d G th e sy m p to m w as u n m ista k a b le .…”