Angiokeratoma corporis diffusum in the absence of metabolic disorders: A case report and mini‐review of the published work

Yasuike, Risa; Nakai, Noriaki; Komori, Satoshi; Katoh, Norito

doi:10.1111/1346-8138.12187

Cited by 5 publications

(17 citation statements)

References 3 publications

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“…[1,6] A literature review showed 20 case reports of angiokeratoma corporis diffusum in the absence of metabolic disorder, and only one other familial case has been reported. [7] Reports are almost evenly split between male and female patients, and most patients are younger than 40 years. Familial cases tend to involve younger females.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Discussionmentioning

confidence: 99%

“…Gene mutational analysis was only performed in two reported cases. [1,7] Our case received complete workup for all related lysosomal storage disease and gene mutational analysis.…”

Section: Discussionmentioning

confidence: 99%

“…[5] Therefore careful observation of the clinical course and continuous accumulation of information on this enzymatic disorder is required. [7] …”

Section: Discussionmentioning

confidence: 99%

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Familial angiokeratoma corporis diffusum without identified enzyme defect

Lu¹,

Lu²,

Wu³

et al. 2015

Indian J Dermatol Venereol Leprol

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Angiokeratoma corporis diffusum is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins, most notably Fabry disease. These defects result in many systemic manifestations. Here, we report a rare familial case of angiokeratoma corporis diffusum that developed at puberty with no major systemic manifestations and no underlying enzyme defect or gene mutation. Familial angiokeratoma corporis diffusum without identified enzyme defect appears to be a distinct clinical entity with a benign course.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Gene mutational analysis was only performed in two reported cases. [1,7] Our case received complete workup for all related lysosomal storage disease and gene mutational analysis.…”

Section: Discussionmentioning

confidence: 99%

“…[5] Therefore careful observation of the clinical course and continuous accumulation of information on this enzymatic disorder is required. [7] …”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Familial angiokeratoma corporis diffusum without identified enzyme defect

Lu¹,

Lu²,

Wu³

et al. 2015

Indian J Dermatol Venereol Leprol

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“…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.…”

Section: Introductionmentioning

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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