Linear basal cell nevus with a novel mosaic PTCH1 mutation.

The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome. Rarely, BCCs may develop in a linear pattern along lines of Blaschko due to cutaneous mosaicism. In cases in which there are other features of Gorlin syndrome, genomic analysis has demonstrated lesional mutations in the Hedgehog signalling pathway. Causative mutations, however, have not been firmly demonstrated in the cases of linear and segmental BCCs in otherwise healthy individuals. Herein, we report a case of a 31 year-old Caucasian woman with linear development of multiple superficial BCCs in a Blaschkoid distribution without other characteristic findings of Gorlin syndrome. Genomic analysis of lesional skin by whole-exome sequencing identified a novel heterozygous mutation PTCH1: NM_000264.3, Exon 15, c.2336-2337insGGTAGGA, p.Asp779Glufs*13 in PTCH1, shared by two discrete samples within the lesion, while no mutations were found in the non-lesional skin or peripheral blood. Given the young age of our patient and linear distribution of BCCs on non-sun exposed skin, our findings suggest segmental mosaicism. The patient was treated with topical 5% imiquimod with histologically confirmed clearance of BCCs in 2 months.

Fillers for postsurgical depressed scars after skin cancer reconstruction.

Traditional scar revision has addressed issues of thickness with intralesional corticosteroids, superficial contours with dermabrasion or laser resurfacing, and postrepair erythema with hemoglobin-targeted laser therapy. Historically, collagen fillers have been used to address several types of scars, including acne, varicella, and trauma, as well as larger soft tissue contour defects. With the introduction of new types of fillers to the dermatologic surgeon's armamentarium, many types of scars with longer lasting results can be addressed. Success has been noted with the use of these newer and more durable fillers, such as hyaluronic acid and calcium hydroxylapatite, to fill and blend postsurgical depressed scars following the reconstruction of skin cancer defects.

Lymphedema of the hand and forearm following fracture of the distal radius.

Lymphedema of the hand following a fracture of the distal radius is a disabling, but rare complication. Although the pathogenesis of this mechanism is poorly understood, extensive review of the literature suggests that an underlying cause of this lymphedema is psychogenic in nature. After numerous therapeutic modalities including intense physiotherapy, sympathetic nerve blocks and hospitalization, our patient still continued to persist with this debilitating disease. This article presents a case of Colles fracture complicated by nonpitting edema in a 62-year-old woman in whom psychogenic causes were not identified. The surgical procedure in our patient was uncomplicated and thus lymphedema was uncomplicated and thus lymphedema secondary to any vascular injury was ruled out. Questions that need to be addressed are whether the onset of the fracture induced an avascular anastomosis that led to the lymphedema. Our conclusions led us to believe the development of lymphedema of the distal radius following Colles fracture was idiopathic in our patient.

Erythematous patches on the hands.

Our patient's history of obsessive-compulsive disorder may have masked the true diagnosis for years.