Widespread angiokaeratomas and tuberous sclerosis

Gil-Mateo, M. P.; Miquel, F.J. Miquel; Velasco, Ana María Rivas; Pitarch, Ana; Fortea, José M.; Aliaga, Adolfo

doi:10.1111/j.1365-2133.1996.tb01161.x

Cited by 5 publications

(1 citation statement)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Circumferences of the upper arms were 14.5 cm in the right and 19 cm in the left, and those of the forearms 15 cm in the right and 22 cm in the left. The skin on the left hand and forearm showed pigmentation and angiokeratomas (Figure 1A), a skin manifestation rarely noted in TSC (8). The liver and spleen were palpable 1 cm and 6 cm, respectively, below the costal margin.…”

Section: Case Descriptionmentioning

confidence: 96%

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Shimoda,

Iwasaki,

Mizuno

et al. 2024

Front. Pediatr.

View full text Add to dashboard Cite

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed TSC1 loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.

show abstract

Section: Case Descriptionmentioning

confidence: 96%

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Shimoda,

Iwasaki,

Mizuno

et al. 2024

Front. Pediatr.

View full text Add to dashboard Cite

show abstract

Degenerative and metabolic diseases

Brinster¹,

Calonje²

2012

McKee's Pathology of the Skin

View full text Add to dashboard Cite

Angiokeratoma corporis diffusum (Anderson–Fabry’s disease): a case report

Massi

Martinelli

Battini

et al. 2000

Acad Dermatol Venereol

View full text Add to dashboard Cite

We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. Histopathological examination of one of the cutaneous papules showed several dilated blood vessels in the superficial dermis surrounded by collarettes of thickened rete ridges, consistent with a diagnosis of angiokeratoma. The electron-microscopic study of a skin specimen demonstrated the presence of dilated lysosomes with deposition of electron-dense bodies, some of which with laminated structure, in endothelial cells and fibroblasts. These findings were regarded as indicative of Fabry's disease. Subsequent biochemical analysis confirmed the presence of a alpha-galactosidase A deficiency in leukocytes. In conclusion, we described the clinical, histopathological and submicroscopic findings of a case of Fabry's disease, in which the combination of electron microscopic and biochemical approaches allowed the correct diagnosis.

show abstract

Widespread angiokaeratomas and tuberous sclerosis

Cited by 5 publications

References 12 publications

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Degenerative and metabolic diseases

Angiokeratoma corporis diffusum (Anderson–Fabry’s disease): a case report

Contact Info

Product

Resources

About