Topical sirolimus for treatment of a solitary angiokeratoma.

Angiokeratomas are benign vascular neoplasms that arise as solitary or multiple lesions, most commonly treated with excision, electrodessication, cryotherapy, or laser therapies. This case presents a young female whose solitary angiokeratoma was treated with topical 1% sirolimus cream, improving the appearance, symptoms, and size of the lesion. Topical sirolimus cream may be a noninvasive treatment option for angiokeratomas with fewer risks than standard therapy that may be feasible and preferable for some patients.

Use of topical rapamycin in acral pseudolymphomatous angiokeratoma of children (APACHE): A report of two cases and review of the literature.

Acral pseudolymphomatous angiokeratoma of children (APACHE) is a rare, benign disease characterized clinically by multiple, asymptomatic, erythematous papules in the acral regions. We report APACHE in a 12-year-old girl with erythematous-violaceous papules on the lateral dorsum of her foot and toes, and a 3-year-old girl with erythematous papules on the plantar aspect of her foot. Topical rapamycin ointment improved the lesions and both patients tolerated the medication well. Topical rapamycin appears to be a potentially efficacious, well-tolerated, non-invasive therapy in APACHE, although further studies are needed.

Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain.

Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both suffered from hypohidrosis. We evaluated the safety and efficacy of ERT with recombinant human agalsidase alfa (Replagal®, Dainippon-Sumitomo Pharma. Co., Osaka, Japan) in these siblings over a 5-year period. In both siblings, sweating was observed 3 months after the initiation of ERT, which motivated them to adhere to ERT. Pain sensation was regained after 12 to 36 months of ERT, followed by a decrease after 48 to 60 months. Angiokeratomas on the lateral side of the knee of the older sibling partially disappeared after 48 months of ERT. Although the height of both siblings at baseline was lower than the corresponding average age-related heights in the normal Japanese population, during ERT they were within, or close to, the average +1 standard deviation in the non-Fabry population. Their growth rate seemed to indicate catch-up growth. Other clinical symptoms were maintained at baseline levels. Immunoglobulin G anti-agalsidase alfa antibodies were not detected in both sibling during ERT, and no infusion-associated reaction was observed. The treatment was generally well tolerated. ERT was a safe and effective treatment for angiokeratoma and neuropathic pain for these two siblings with Fabry disease.

Acral pseudolymphomatous angiokeratoma of children (APACHE).

13-year-old girl presented with a 10-year history of multiple discrete red firm papules situated on her right upper arm. The histopathology examination revealed a massive subepidermal lymphohistiocytic infiltrate, consistent with acral pseudolymphomatous angiokeratoma of children. Treatment with topical application of mometasone furoate 0.1% cream once daily for 6 months improved the lesions partially. However, these papules returned to their pretreatment appearance and consistency within 6 months after the cessation of the topical corticosteroid. The authors prefer the term 'papular angiolymphoid hyperplasia' for this entity, based on the absence of histological angiokeratomatous features, the benign nature of the lesion and the previously reported cases from adults and non-acral sites.