Desquamative inflammatory vaginitis as a manifestation of vitamin D deficiency associated with Crohn disease: case reports and review of the literature.

Desquamative inflammatory vaginitis (DIV) is a chronic disorder associated with yellow vaginal discharge, vulvovaginal burning and pruritus, and dyspareunia. The cause of DIV is unknown; however, infectious, hormonal, and inflammatory etiologies have been proposed. In this series, we observe the association of DIV and vitamin D deficiency by reporting 4 cases of women with DIV and vitamin D deficiency associated with Crohn disease.

Treatment of desquamative inflammatory vaginitis with vitamin D: a case report.

Desquamative inflammatory vaginitis (DIV) is a well-described but poorly understood vaginitis associated with yellow vaginal discharge and vulvovaginal pruritus, burning, and dyspareunia. Although etiologies of an inflammatory, infectious, and hormonal nature have been proposed, response to therapy has been inconsistent and complete resolution of symptoms has been disappointing. We propose that DIV is a mucous membrane manifestation of vitamin D deficiency that results in desquamation of the vaginal epithelium and discharge.

PTCH mutations in squamous cell carcinoma of the skin.

Ultraviolet light exposure is the major risk factor for the development of squamous cell carcinoma in Caucasians. Mutations in the tumor suppressor gene p53 have been identified in both squamous cell carcinomas and basal cell carcinomas. The human homolog of the Drosophila patched gene, has been shown to be mutated in sporadic basal cell carcinomas; however, mutations in the patched gene have not been found in squamous cell carcinoma.

UV-specific p53 and PTCH mutations in sporadic basal cell carcinoma of sun-exposed skin.

UVB irradiation is known to produce DNA damage at mutation hotspots in the p53 tumor suppressor gene, leading to the development of skin cancers. Mutations in the PTCH tumor suppressor gene, which is known to be responsible for the development of nevoid basal cell carcinoma syndrome, have also been identified in sporadic basal cell carcinomas (BCCs). We describe the case of an 80-year-old welder in whom 3 novel p53 mutations, as well as UV-specific PTCH mutations, were detected in two BCC samples from sun-exposed skin.

Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two inherited hamartoma syndromes characterized by distinct phenotypic features. Mutations in the PTEN gene have been identified in patients with CS and BZS, suggesting the presence of a common genetic basis. We describe a single kindred with individuals manifesting both CS and BZS phenotypes (CS/BZS overlap family) in which we have identified a novel mutation in PTEN by DNA sequencing.