Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbiditie...Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.展开更多
Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old ...Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.展开更多
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 t...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 the elderly may be difficult. We present a 77 year-old patient with a birth lesion on the back of his calf who came to the clinic with a two year history of enlargement of this lesion following trauma. We performed an excisional biopsy because clinical appearance simulated melanoma arising from a congenital nevus. Nevertheless, the histopathological examination revealed a verrucous hemangioma. A diagnosis of VH should be considered in erythematous papules, nodules, and plaques, especially those that are hyperkeratotic, present at birth, located on the lower extremities, and show growth after trauma or infection.展开更多
文摘Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.
文摘Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.
文摘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 the elderly may be difficult. We present a 77 year-old patient with a birth lesion on the back of his calf who came to the clinic with a two year history of enlargement of this lesion following trauma. We performed an excisional biopsy because clinical appearance simulated melanoma arising from a congenital nevus. Nevertheless, the histopathological examination revealed a verrucous hemangioma. A diagnosis of VH should be considered in erythematous papules, nodules, and plaques, especially those that are hyperkeratotic, present at birth, located on the lower extremities, and show growth after trauma or infection.
