Cutaneous collagenous vasculopathy: report of the first pediatric case.

We describe a 16-year-old girl who presented with a 3-year history of telangiectatic patches on the extremities and trunk. Skin biopsies demonstrated dilated vessels with thickened walls containing hyaline material in the papillary dermis, resembling those seen in systemic amyloidosis, porphyrias, or lipoid proteinosis. A diagnosis of cutaneous collagenous vasculopathy was made. To our knowledge, cutaneous collagenous vasculopathy has previously only been described in adults aged 50 and older.

Multiple facial milia in patients with Loeys-Dietz syndrome.

BACKGROUND: Loeys-Dietz syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age. Currently, craniofacial, skeletal, and cardiovascular findings play an important role in early recognition of the disease. While many patients do have recognizable cutaneous features of LDS, little information about associated skin findings has been reported. OBSERVATIONS: Four unrelated patients with LDS due to a mutation in the TGFBR2 gene were observed to have numerous facial milia. All 4 patients reported that the milia had been present since early childhood and had increased in number with time. In some cases, affected relatives were reported to have similar findings. CONCLUSIONS: To our knowledge, the association of LDS and facial milia has not been previously reported. Recognition of LDS is important because the aggressive aortic and arterial disease warrants early surgical therapy. Facial milia and other cutaneous findings may possibly differentiate LDS from Marfan syndrome and other related disorders, thereby facilitating early diagnosis. Interestingly, each of the 4 patients with LDS and facial milia had a mutation in TGFBR2 despite widespread variability in other features of the disease.

Cutaneous effects of thiotepa in pediatric patients receiving high-dose chemotherapy with autologous stem cell transplantation.

High-dose thiotepa, a polyfunctional alkylating agent used in the treatment of solid tumors in children and adults, has been reported to cause a variety of reactions in the skin, including erythema, blistering, and hyperpigmentation. Reports vary in descriptions of the prevalence, severity, and nature of cutaneous reactions to thiotepa. To further characterize the cutaneous effects of thiotepa in children, we performed a chart review of 38 pediatric patients treated with a thiotepa-based chemotherapy regimen before autologous stem cell transplantation. Although cutaneous symptoms were documented in all patients, a consistent pattern of diffuse erythema with progression to desquamation and hyperpigmentation occurred in nearly 80% of the patients. Intertriginous and occluded areas were often the initial areas to be affected. Recognition of this association will improve the care of this patient population. This study was limited by reliance on chart data and lack of follow-up by a dermatologist.

Use of motor nerve material in peripheral nerve repair with conduits.

We have recently shown in experimental nerve injury models that nerve regeneration is enhanced across a motor nerve graft as compared with a sensory nerve graft. To test the hypothesis that nerve architecture may mediate the beneficial effect of motor nerve grafting, we developed a model of disrupted nerve architecture in which motor and sensory nerve fragments were introduced into silicone conduits. Lewis rats were randomized to 5 experimental groups: nerve repair with motor nerve fragments, sensory nerve fragments, mixed nerve fragments, saline-filled conduit (negative control), or nerve isograft (positive control). At 6, 9, or 12 weeks, animals were sacrificed and nerve tissues were analyzed by quantitative histomorphometry. No significant differences were observed between the motor, sensory, and mixed nerve fragment groups. These findings suggest that intact nerve architecture, regardless of neurotrophic or biochemical factors, is a prerequisite for the beneficial effect of motor nerve grafting.