Angiokeratomas of Fabry successfully treated with intense pulsed light.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A. Angiokeratomas (AKs) are a frequent manifestation of this disease. They usually become apparent during childhood and can cause important cosmetic disability. Current treatment of this feature in the setting of FD has been mainly based on the application of laser systems, namely the argon laser, the variable pulse width 532-nm Nd:YAG laser, the 578-nm copper vapor laser and the flashlamp-pumped pulsed dye laser. We report the case of a 31-year-old Caucasian woman with a clinical and molecular (GLA p.R118C) diagnosis of FD, presenting multiple AKs scattered over the buttocks and thighs. She was treated with 10 sessions of intense pulsed light (IPL), with a 4-8-week interval between them. An almost complete clearance of the lesions was obtained, with no scars or significant complaints. No recurrence occurred during a 12-month follow-up period. The IPL source can be considered a suitable, effective and safe treatment modality for these cutaneous lesions that typically affect patients with FD, with no need for local anesthesia and with very satisfactory cosmetic results. To our best knowledge, there are no reports in the literature of Fabry's AKs treated with IPL.

An infant with bullous pemphigoid.

Bullous pemphigoid is the most common subepidermal autoimmune blistering disease. However, it is very rare in the pediatric population. A 5-month-old male infant presented with multiple bullae located on palms and soles. Complete blood count revealed relative eosinophilia . A biopsy revealed a subepidermal blister present along with a dermal mononuclear infiltrate rich in eosinophils. In focal areas collagen flame figures, were also observed. Direct immunofluorescence showed linear reactivity for C3c and IgG at the dermal-epidermal junction. IgA was not found. Complete resolution was achieved after oral deflazacort (1.5mg/kg/day) with progressive dose reduction over 2 weeks. Bullous pemphigoid is extremely rare in the infant. In our case the disease presented with an unusual localized (acral) clinical distribution and a favorable outcome.