Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas

Hogarth, Victoria J.; Dhoat, Sasha; Mehta, Atul; Orteu, Catherine H.

doi:10.1111/j.1365-2230.2011.04053.x

Cited by 19 publications

(12 citation statements)

References 8 publications

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“…They are not a vascular ectasia. Hogarth et al ( 10) reported a 76-yearold man with FD who had widespread cherry haemangiomas on his trunk and angiokeratomas localized on his scrotum. They concluded that a diagnosis of FD should be considered in patients with cherry haemangiomas and cardiac disease.…”

Section: Discussionmentioning

confidence: 98%

Electron-microscopy of Cherry Haemangioma in the Early Diagnosis of Fabry Disease

Tokuriki¹,

Kiyohara²,

Kumakiri³

2013

Acta Derm Venerol

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Fabry disease (FD) is a chronically progressive, congenital metabolic disease. Deficiency of a-galactosidase A (a-gal A) results in the accumulation of glycosphingolipids in various types of cell. Most male patients with FD develop renal failure, cardiac and cerebrovascular disease, which are the major causes of morbidity and mortality, occurring in the fourth or fifth decade of life ( 1 ). Thus, it is important to diagnose and start to treat FD as promptly as possible (2). We describe here a patient with FD who presented with only a few red papules, pathologically consistent with cherry haemangioma. CASE REPORTA 27-year-old Japanese man presented with a few, solitary, 2-3-mm diameter, bright-red papules on the chest and left shoulder (Fig. lA). His mother, a 52-year-old Japanese woman, had been diagnosed with FD due to asymptomatic cardiomegaly detected during a regular medical check-up. This prompted her son also to undergo examination. A detailed medical history revealed that he had been aware of relatively mild numbness and tingling in his extremities, and oligohidrosis after strenuous exertion, since approximately 10 years of age. Histologically, the papules showed numerous moderately dilated vessels lined with flattened endothelial cells and pericytes in the subpapillary region, sparing the papillary dermis. The intervascular stroma showed homogenization ofthe collagen. The overlying epidermis was slightly thinned and there was no vessel invagination into the epidermis (Fig. IB). We could recognize neither vacuolations nortoluidine blue-stained deposits in the cytoplasm of endothelial cells or sweat gland cells. We then performed electron-microscopy of the papules, demonstrating uneven dense and lamellar deposits in the cytoplasm ofthe endothelial cells and pericytes (Fig. 2). This finding is characteristic of lysosomal storage diseases, such as FD. Laboratory tests gave the following results; plasma a-gal A activity, 0.2 nmol/h/ml (normal 6.0-10.8 nmol/h/ml); urinary GL-3, 7.06 mg/mgCr (normal < 0.26 mg/mgCr); urinary a-gal A protein, 11.2 ng/mgCr (normal >38.2 ng/mgCr). Finally, the patient was diagnosed with FD and has been receiving enzyme replacement therapy (agalsidase beta; 1 mg/kg) for nearly 3 years, given every other week, starting from 2 months after his initial consultation at our institution. To date, this therapy has prevented the disease from progressing and the patient has been able to carry out his normal activities of daily living. Fig. 1. (A) Clinical presentation: 2-miii diameter, solitary, red papule on the right ehest. (B) Histologically, red papule shows the features of eherTy haemangioma rather than those of angiokeratoma (haematoxylin-eosin staining X 100). fig. 2. Electron-dense cytoplasmic inclusion bodies within vaseularendothelia! cells and pericytes (lead hydroxide staining, original magnification x 4.000).

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Section: Discussionmentioning

confidence: 98%

Electron-microscopy of Cherry Haemangioma in the Early Diagnosis of Fabry Disease

Tokuriki¹,

Kiyohara²,

Kumakiri³

2013

Acta Derm Venerol

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“…It is a vascular dermatosis characterised by dilated vessels of the superficial dermis associated with epidermal hyperplasia 2. The remaining skin should also be carefully examined for other lesions that may be associated with Fabry syndrome, malignant melanoma, melanocytic naevi or other pathologies 1 3…”

Section: Descriptionmentioning

confidence: 99%

A giant angiokeratoma of Fordyce: an uncommon cause of acute scrotum

Ribeiro¹,

Ferreira

Oliveira

2013

BMJ Case Reports

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“…In most cases, their aetiology is unknown, except for reports linking exposure to chemicals such as bromides 2 and mustard gas, 3 and a case report in association with ciclosporin treatment of psoriasis 4 . In addition, multiple cherry angiomas are associated with late‐onset Fabry disease (FD) 5 …”

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confidence: 99%

“…4 In addition, multiple cherry angiomas are associated with late-onset Fabry disease (FD). 5 Lichen sclerosus (LS) is an uncommon dermatosis with a predilection for the anogenital skin in women and the genital skin in men. It has a female predilection, with a 10 : 1 female : male ratio, and extragenital lesions occur in about 10% of female patients.…”

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confidence: 99%

Segmental cherry angiomas associated with extragenital lichen sclerosus: a report of two cases

et al. 2013

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Cherry angiomas (Campbell de Morgan spots) are common acquired red skin papules composed of dilated capillary loops, usually of unknown aetiology. Extragenital lichen sclerosus (LS) presents as porcelain-white scaly atrophic lesions with or without genital involvement. We report two cases of segmental multiple cherry angiomas in association with extragenital LS. Two unrelated women, aged 46 and 66 years, presented with extragenital LS affecting their axillae and lower abdomen. During the examination, both patients were noted to have several hundred red skin papules in a segmental distribution, affecting the left thigh and flank of one woman, and the right abdomen and back of the other. Clinically and histologically, the papules were consistent with cherry angiomas. The striking segmental distribution of multiple cherry angiomas may be due to genetic mosaicism; however, segmental Fabry disease was excluded by sequence analysis of the α-galactosidase A gene. Any causal link between cherry angiomas and LS remains uncertain.

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Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas

Cited by 19 publications

References 8 publications

Electron-microscopy of Cherry Haemangioma in the Early Diagnosis of Fabry Disease

Electron-microscopy of Cherry Haemangioma in the Early Diagnosis of Fabry Disease

A giant angiokeratoma of Fordyce: an uncommon cause of acute scrotum

Segmental cherry angiomas associated with extragenital lichen sclerosus: a report of two cases

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