Dermatologic Aspects of Fabry Disease

Abstract

Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD). Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.

European expert consensus statement on therapeutic goals in Fabry disease

“…Clinical experience suggests that the resolution of angiokeratomas via disease-specific ERT is unrealistic. The treatment goal, therefore, is to use nonspecific treatment options such as laser therapy to remove lesions [163] (Table 6). [164] and symptomatic conjunctival lymphangiectasia [165].…”

Angiokeratomas, not everything is Fabry disease

“…Angiokeratomas (AKs) are benign unclassified vascular anomalies of the superficial vascular plexus that can form dark‐red to black papules, nodules, or plaques with associated overlying epidermal hyperplasia (acanthosis oy hyperkeratosis) rather than a true vascular neoplasm . Aks are classified into localized or diffuse AKs.…”

“…Aks are classified into localized or diffuse AKs. Localized variants include: AK of Mibelli, solitary AK, AK circumscriptum naeviforme, AK of the tongue, and AK of Fordyce (genital area), which are rarely studied . The diffuse form, angiokeratoma corporis diffusum (ACD), is characterized by multiple angiokeratomas usually localized in a bathing suit distribution (from the navel through the upper thighs), although any region of the body surface may be affected.…”

“…Angiokeratomas (AKs) are benign unclassified vascular anomalies of the superficial vascular plexus that can form dark-red to black papules, nodules, or plaques with associated overlying epidermal hyperplasia (acanthosis oy hyperkeratosis) rather than a true vascular neoplasm. [1][2][3][4][5] Aks are classified into localized or diffuse AKs. Localized variants include: AK of Mibelli, solitary AK, AK circumscriptum naeviforme, AK of the tongue, and AK of Fordyce (genital area), which are rarely studied.…”

“…Localized variants include: AK of Mibelli, solitary AK, AK circumscriptum naeviforme, AK of the tongue, and AK of Fordyce (genital area), which are rarely studied. 1 The diffuse form, angiokeratoma corporis diffusum (ACD), is characterized by multiple angiokeratomas usually localized in a bathing suit distribution (from the navel through the upper thighs), although any region of the body surface may be affected. The diffuse form is related to lysosomal storage diseases (LSD), which are grouped according to the enzymatic degradation pathway involved: Anderson-Fabry disease sphingolipidoses (AFD) and GM1-gangliosidosis; glycoproteinoses, aspartylglucosaminuria, mannosidosis, fucosidosis, and sialidosis II; multiple enzyme deficiencies as galactosialidosis by B-galactosidase and neuraminidase and Kanzaki disease by a-N-acetylgalactosaminidase (a-NAGA) ( Table 1).…”