In 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, separately described a disease characterized by skin lesions, known as angiokeratomas. This issue contains two reports of Fabry disease (FD) patients presenting with proteinuric chronic kidney disease (CKD) but lacking angiokeratomas [1, 2]. These cases illustrate the phenotypic heterogeneity of the disease ...

In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia r...

Hospital Rijeka with a two-year history of failure to thrive and widespread skin lesions. Before the admission, he was seen by numerous physicians regarding these signs, without the working diagnosis. On physical examination, the boy’s weight and height were below the 5th percentile age curve. Close inspection of the skin revealed widespread angiokeratomas, most dense over the umbilical region ...

Verrucous hemangioma is an uncommon congenital vascular malformation, which may clinically masquerade angiokeratoma, lymphangioma circumscriptum, or malignant melanoma. Differentiation is essential owing to varied therapeutic and prognostic implications. We present a rare case of multiple verrucous hemangiomas in a teenage girl who presented with multiple warty lesions over the dorsal aspect of...

Verrucous hemangioma (VH) is an uncommon, congenital, vascular anomaly that resembles angiokeratoma but it encompasses distinctive clinicopathological features. The differential diagnosis of this entity included all the hyperkeratotic vascular tumors and malformations and, especially in localized cases, pigmented lesions. VH lesions initially present at birth, and therefore, the diagnosis in th...

A 55 year old woman with heterozygous Fabry's disease presented with cardiac symptoms. The electrocardiogram showed a PR interval of 0.12 s and giant negative T waves, suggesting apical hypertrophic cardiomyopathy. Endomyocardial biopsy, however, revealed myelin like substances characteristic of Fabry's disease. Increasing thickness of the left ventricular wall was seen by echocardiography over...