Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rarity and high fatality rate, timely diagnosis is difficult and ISH may be underdiagnosed. In this report, we describe a 10-month-old male with severe protein-losing enteropathy, skin lesions, and painful joint contractures, diagnosed with ISH based on skin his-topathology and identification of a novel homozygous ANTRX2 mutation, c.1127_1128delTG (p.V376Gfs*14). While its clinical outcome is poor without curative treatment, establishing a diagnosis of ISH starting from clinical suspicion to molecular analysis is important for appropriate medical management and for risk and carrier assessment of family members.
External genital warts (EGW) are currently the most common form of viral sexually transmitted disease found in the general population. EGW have been shown to occur as a direct result of infection with the human papillomavirus (HPV). Malignancy is typically associated with high-risk types of HPV; however, low-risk type association has been observed. Numerous therapies are presently indicated for use in the treatment of EGW, which can target lesions through multiple modalities including topically, surgically or via immune modulation. Therapies often differ dramatically with respect to cost, side-effect profiles, dosing schedules, duration of treatment and overall effectiveness. Routine HPV vaccination may play a powerful role in reducing the burden of disease by preventing viral infection and transmission. As HPV vaccination continues to gain widespread approval, it may prove instrumental in decreasing the incidence of HPV infection and eventually eradicating genital warts. Current update on the treatment of genital warts Expert Rev. Dermatol. 8(3), 321-332 (2013) Keywords: condyloma acuminata • external genital warts • HPV vaccination • human papillomavirus • imiquimod cream • sinecatechins ointment • verrucous carcinoma For reprint orders, please contact reprints@expert-reviews.com Expert Review of Dermatology Downloaded from informahealthcare.com by Nyu Medical Center on 07/26/15 For personal use only.
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ABSTRACTObjective: To evaluate the efficacy of combination cryotherapy and imiquimod 3.75% cream versus cryotherapy alone in the treatment of hypertrophic actinic keratosis on the dorsal hand and forearm. Methods: Twenty subjects with at least three hypertrophic actinic keratoses on each dorsal hand or forearm underwent cryotherapy treatment to hypertrophic actinic keratoses. Following cryotherapy, subjects were randomized to have either their right or left dorsal hand or forearm treated with imiquimod 3.75% cream to begin on the same day as cryotherapy treatment. Subjects then utilized the two weeks on, two weeks off, two weeks on regimen of imiquimod 3.75% cream application. Local skin reactions were also assessed. Results: For the cryotherapy/imiquimod 3.75% arm, the median total hypertrophic actinic keratosis reduction was -5.12 and for the cryotherapy alone arm, the median total hypertrophic actinic keratosis reduction was -2.24 (P<0.0094). Limitations: Local skin reactions unblind the investigator. Conclusion: Cryotherapy plus imiquimod 3.75% cream resulted in a statistically significant improvement in the reduction of hypertrophic actinic keratoses than cryotherapy alone at 14 weeks. (J Clin Aesthet Dermatol. 2013;6(2):36-43.)
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