International journal of dermatology
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Case Reports
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
Glomuvenous malformations (GVMs, OMIM 138000) are hamartomas presenting in childhood as multiple, bluish, soft papules and nodules that tend to grow slowly in size and number with age. They are caused by autosomal dominant mutations in glomulin (GLMN) gene; penetrance varies from 80% at 20 to about 100% at age 30 years. We report on the c.395-1G>C mutation of GLMN gene in two siblings showing variable penetrance.
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A 79-year-old Caucasian male presented with a 1-week history of diffuse progressive blue-gray discoloration of the skin subsequently found to due to diffuse melanosis cutis (DMC) in the setting of metastatic melanoma. Mutation testing demonstrated BRAF(V600E) mutation status, an unexpected finding given his age. He died two weeks after presentation. ⋯ As our understanding of the molecular subtypes of melanoma increases, in the future it may be possible to predict which melanoma patients have a predilection to developing DMC. Mutation testing of DMC patients should be considered as BRAF inhibitors, and other novel targeted therapies may improve the bleak prognosis associated with this unusual presentation of metastatic melanoma.
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The aim of this study was to evaluate changes in nasal and oropharyngeal flora in patients with acne during treatments with tetracycline and isotretinoin. Swab specimens were taken from the right and left nasal cavities and oropharynx of 55 patients with acne and 20 healthy volunteers who were admitted to the dermatology department (Etlik Educational and Research Hospital, Ankara, Turkey) before the administration of treatment and in the third month of treatment. Study participants were divided into four groups as follows: patients with acne on topical treatment only, systemic isotretinoin, and systemic tetracycline, and the control group. ⋯ Treatment options and follow-up procedures for acne vulgaris may lead to the development of bacterial resistance and damage to flora. In particular, systemic tetracycline treatment leads to changes in flora of the nose and throat in patients with acne with an increased carriage of S. aureus. Therefore, careful attention should be paid to the duration of tetracycline treatment in order to not increase the risk of disturbance of microbial flora.