Widespread angiokeratomas without evidence of metabolic disease

Marsden, J.

doi:10.1001/archderm.123.9.1125

Cited by 8 publications

(10 citation statements)

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“…Supporting evidence for this might include the appearance of lipid droplets in the urine from an otherwise healthy kidney and the lower (but within normal range) levels of enzymes in some of the above-mentioned patients or their first-degree relatives. 17,19 Perhaps gene mutational analysis could be helpful in this regard, as over 200 mutations have been described in Fabry disease alone. 27 Alternatively, our patient's lipid droplets may represent a very early manifestation of a glomerular disorder, such as minimal change disease.…”

Section: Electron Microscopymentioning

confidence: 99%

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Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

Kelly¹,

Kelly²

2006

Arch Dermatol

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Background: Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.Observations: We report a case of angiokeratoma corporis diffusum that did not have an identifiable enzyme deficiency. A review of the literature revealed few similar cases. Conclusion:Angiokeratoma corporis diffusum without recognizable enzyme deficiencies appears to be a distinct clinical entity with a benign course.

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Section: Electron Microscopymentioning

confidence: 99%

“…[11][12][13][14] Very rarely, ACD has been reported in patients with normal enzyme activity. [15][16][17][18][19][20][21][22][23][24][25] We report such a case not only with normal enzyme activity but also without evidence of any underlying systemic abnormalities. We also review the other reported cases of ACD with normal enzyme function.…”

mentioning

confidence: 99%

Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

Kelly¹,

Kelly²

2006

Arch Dermatol

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“…To diagnose ADNEA, individuals must have AKs and no family history, systemic manifestations, nor laboratory findings suggestive of LSD . Clinical findings in LSD include: neurological impairment (cognitive deficit, peripheral neuropathy, ataxia, spasticity, hypotonic epilepsy), skeletal abnormalities (thick facies), ophthalmopathy (corneal opacity, cherry red spot), hepatosplenomegaly, renal failure, cardiac alterations, and thromboembolic‐ischemic or hemorrhagic vascular disease.…”

Section: Discussionmentioning

confidence: 99%

“…The mononuclear cells of the reticuloendothelial system are particularly rich in lysosomes and are commonly affected across the spectrum of LSD. Neurons and glia are probably involved owing to the relative inability of cellular renewal of the nervous system …”

Section: Discussionmentioning

confidence: 99%

Angiokeratomas, not everything is Fabry disease

et al. 2019

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Introduction Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals. Methods and Case We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case. Discussion Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation. Conclusion This is an academic–clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up‐to‐date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.

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“… * Systemic glycolipidosis owing to deficiency of ceramide trihexosidase 28 . But lesions similar to those of Fabry's have also been seen in fucocidosis and sialidosis and also in phenotype, suggestive of mucopolysacharidosis 29 . To date, only three cases of widespread angiokeratomas with no evidence of any metabolic disease have been reported in the literature 29–31 …”

Section: Introductionmentioning

confidence: 99%

Angiokeratoma circumscriptum: a case report and review of the literature

Mittal¹,

Aggarwal²,

Srivastava³

2005

Int J Dermatology

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The term “angiokeratoma” is applied to several distinct conditions with vascular skin lesions, the histology of which shows superficial vascular ectasia and overlying hyperkeratosis.1 The angiokeratomas should be regarded as capillary vascular malformation rather than hemangiomas.1 Apart from angiokeratoma corporis diffusum (Fabry), which is a disorder of phospholipid metabolism, at least four types of purely cutaneous angiokeratoma are known: the Mibelli type, the Fordyce type, angiokeratoma circumscriptum and “solitary and multiple angiokeratoma” (Imperial and Helwig). We present here a case of angiokeratoma circumscriptum and a brief review of the literature.

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Widespread angiokeratomas without evidence of metabolic disease

Cited by 8 publications

References 0 publications

Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

Angiokeratoma Corporis Diffusum in a Patient With No Recognizable Enzyme Abnormalities

Angiokeratomas, not everything is Fabry disease

Angiokeratoma circumscriptum: a case report and review of the literature

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