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.
View Article and Find Full Text PDFCutaneous 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.
View Article and Find Full Text PDFDigitocutaneous 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.
View Article and Find Full Text PDFInfantile 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.
View Article and Find Full Text PDFElastosis 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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFAs 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.
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