Angiokeratoma Corporis Diffusum and Arteriovenous Fistulas With Dominant Transmission in the Absence of Metabolic Disorders

Calzavara‐Pinton, Piergiacomo; Colombi, Marina; Carlino, A; Zane, Cristina; Gardella, Rita; Clemente, Maria; Facchetti, Fabio; Moro, Laura; Zoppi, Nicoletta; Caimi, Luigi; Barlati, Sergio; Panfilis, Giuseppe De

doi:10.1001/archderm.1995.01690130059011

Cited by 30 publications

(15 citation statements)

References 22 publications

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“…It is possible that in their case enzyme deficiency was present but had not yet manifested itself clinically. Also, it appears as though CalzavaraPinton et al 22 have described a unique and separate entity with underlying arteriovenous malformations and an autosomal dominant type of inheritance. Finally, it is plausible that the case described by Nguyen et al 25 may more accurately be classified as multiple angiokeratomas, given the lesions' lower limb predominance, verrucous nature, and large size.…”

Section: Commentmentioning

confidence: 96%

“…The cases described by Calzavara-Pinton et al 22 are not included because many of them involved systemic arteriovenous fistulas and appeared to be a distinct autosomal dominant disease (Table). Also, the case by Laxmisha and colleagues has not been confirmed, as neither electron microscopy nor enzyme analysis was performed.…”

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%

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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: Commentmentioning

confidence: 96%

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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“…Unlike the more common systemic forms, solitary forms are unassociated with underlying systemic disease. [3,4] Angiokeratomas are classified into five types according to their clinical characteristics. [2] The localized form includes: (1) The solitary papular type, which can manifest on any body part as a single lesion; (2) the Fordyce type, which occurs on the scrotum or the vulva;…”

Section: Discussionmentioning

confidence: 99%

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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“…6 The primary cause of the development of AKs in FD is the lysosomal storage of Gb3 in cutaneous endothelial cells with consequent weakness of the capillary wall and secondary ectasia. 28 Isolated AKs are often mistaken for verruca vulgaris, hemangiomas, thrombosed capillary aneurysms, Spitz nevi, eruptive angiomas, pyogenic granulomas, and other cutaneous entities. We also must differentiate them from other types of AKs such as solitary AKs, Fordyce AKs, AKs circumscriptum naeviforme, and AKs of Mibelli.…”

Section: Commentmentioning

confidence: 99%