Pulsed dye laser for the treatment of macular amyloidosis: a case report.

Macular amyloidosis causes an eruption of brown pigment in the skin when keratin is altered. The resulting hyperpigmentation, which often leads to patient distress, generally has unsatisfactory treatment options. Among the treatment modalities that have been used for amyloidosis, the pulsed dye laser (PDL) has shown success in the treatment of nodular amyloidosis, and the Q-switched Nd:YAG laser has reduced the appearance of amyloid plaques in macular amyloidosis. We investigated the effects of repeated PDL treatments in a 57-year-old man with recalcitrant macular amyloidosis. The patient was treated with 3 treatment sessions of PDL at 2-week intervals. Based on patient self-assessment and our own photographic analysis, improvement of the lesions was noted with each treatment. Macular amyloidosis can be successfully treated using the PDL, which decreases amyloid aggregation and skin hyperpigmentation. This effect from a decrease in collagen and dermatan sulfate synthesis is similar to the mechanism behind the reduction of size of hypertrophic scars using PDL.

Cutaneous manifestations of Costello syndrome.

Cutaneous findings are common in Costello syndrome, but have not been extensively reviewed in the dermatology literature. We present the cutaneous and histopathologic findings from two cases of Costello syndrome and review previously described cutaneous features of this syndrome. Both patients had manifestations of Costello syndrome with thick, lax skin on the dorsal aspects of hands and feet, deep palmar and plantar creases, curly hair, hyperkeratoses, acanthosis nigricans, papillomas, and multiple pigmented lesions. One patient had multiple syringomas on the forearms, a finding not previously reported. Pigmented lesions have previously been reported as nevi in the literature though no biopsies have been reported. We conclude that thick, loose skin on the dorsal aspects of hands and feet and deep palmar and plantar creases are cardinal manifestations of Costello syndrome and benign tumors of ectodermal origin such as papillomas, calcified epitheliomas, dermoid cysts, mammary fibroadenosis, and syringomas are important features of this syndrome.

Digitocutaneous dysplasia.

Digitocutaneous dysplasia is a rare X-linked dominant genetic syndrome characterized by multiple digital fibromas, atrophic plaques, dental anomalies, dysmorphic features, and bone anomalies. We report the case of a 2-year-old Mexican girl with this rare condition and discuss the clinical, histologic, and genetic features.

Generalized atrophic dells in a newborn.

Infantile myofibromatosis (IM) is a nonmetastasizing locally invasive neoplasm. The behavior of the tumor is more hamartomatous than tumoral, and it is unclear whether the cell of origin is a fibroblast or a smooth muscle myocyte. Lesions typically present during infancy and range in size from a few millimeters to several centimeters. We present an unusual case of a patient with an atrophic variant of IM.

What is standard of care in the evaluation of elastosis perforans serpiginosa? A survey of pediatric dermatologists.

Elastosis perforans serpiginosa is a rare chronic dermatosis characterized by extrusion of altered elastic fibers through the epidermis. It often occurs in association with a variety of connective tissue disorders, and may develop following penicillamine therapy; however, it may also present without comorbidities. There are currently no well-established protocols for the investigation of possible associated disorders in patients who present with elastosis perforans serpiginosa. We describe three patients with idiopathic elastosis perforans serpiginosa seen at our clinic and review the standard of care among 31 pediatric dermatologists surveyed who have cared for such a patient within the last 2 years. Based upon the results of our survey, we conclude that most pediatric dermatologists limit their evaluation of such patients to a thorough patient history and physical examination. This limited approach may be a sufficient evaluation in affected patients who are otherwise healthy.

Koilonychia, dome-shaped epiphyses, and vertebral platyspondylia.

A 2.5-year-old girl presented with koilonychia since birth and was subsequently found to have dome-shaped femoral epiphyses and platyspondylia with anterior central tongues on a skeletal survey.

Connective tissue disease in children.

As our understanding of connective tissue disease expands, so too does our therapeutic armamentarium. We have learned that autoimmunity triggers inflammation through unchecked, proliferative cell-mediated inflammation. By targeting this arm of the cytokine cascade, it may be possible to arrest further progression. Several biologic agents, such as etanercept, alefacept, infliximab, efaluzimab, and, recently, adalimumab, have come to market for adult psoriasis and are now undergoing trials for juvenile SLE, psoriasis, and psoriatic arthritis. Of note, etanercept has been used successfully in juvenile rheumatoid arthritis for more than 10 years. These agents target cell-mediated inflammation through various mechanisms and hold great promise for the treatment of many of the disease states discussed above. Moreover, the biologics carry an improved side-effect profile not seen with traditional agents such as corticosteroids and will be central in the evolution of targeted therapeutics for these complex immunologic diseases.