Familial ACD With No Recognizable Enzyme Abnormalities

Angiokeratomas, not everything is Fabry disease

“…ADNEA is clinically identified by the appearance of multiple dark‐red papules or occasionally plaques. The most frequent location is in a bathing suit distribution; in men, genitals, upper trunk, upper extremities, face, and eyelids are often involved, while women usually have the inguinal area, genital labia, and breasts compromised . Moreover, ADNEA is more severe and extensive in men, while women have more attenuated lesions, as in our patient.…”

“…(1992); Gerbig et al . (1995); Laxmisha et al (2003); Nguyen et al (2004); and Lipsker et al (2006) did not perform electron microscopy, GLA gene polymorphisms test, or a complete enzymatic analysis. Additionally, these cases presented some concomitant genetic findings, such as Turner syndrome, facial dimorphisms, arteriovenous fistulas, familiar associations, or other LSD features.…”

“…Common treatments include locally destructive methods: cryotherapy, electrocoagulation, laser treatment, and surgical excision, but still no definite treatment for ADNEA has been proposed. [2][3][4][5][6][7][8][9][10][11][12][14][15][16][17][18][19][20][21][22][23][24][25][26][27] Some authors suggest that ADNEA may correspond to an as yet unrecognized subclinical metabolic disorder. Therefore, further…”

Familial angiokeratoma corporis diffusum without identified enzyme defect

“…Familial cases tend to involve younger females. [8] No cases have revealed impaired intelligence or systemic vascular events, and the first appearance of the lesions is always during puberty. However, the first hospital visits are made an average of 10.8 years after onset of the eruption, which implies that the severity of disease gradually increases over time.…”

“…None of the reported cases revealed lysosomal inclusions on electron microscopy of biopsy specimens. [1,4,5,[7][8][9][10] Not all cases underwent a complete survey of enzyme activity for related lysosomal storage disease. Gene mutational analysis was only performed in two reported cases.…”