Prenatal Exclusion of Lamellar Ichthyosis Based on Identification of Two New Mutations in the Transglutaminase 1 Gene

Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis. Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of two linked loci (on chromosomes 14q11 and 2q33–35). In a cohort of four small families with lamellar ichthyosis we found confirmatory evidence for linkage (p ≤ 0.01) to D14S275, a microsatellite marker close to transglutaminase 1 on chromosome 14q11. We also identified two novel transglutaminase 1 mutations in an affected sibling pair from one of these families. The paternal mutation in exon 3, 1387insCAGC, causes a frameshift predicted to result in premature termination of translation within the same exon. The maternal mutation in exon 8, 4561delAC, also causes a frameshift and a premature stop codon in this exon. The mother of these siblings recently became pregnant with twins. Genotyping and direct sequencing of DNA isolated from fetal amniotic fluid cultures revealed the presence of the paternal but the absence of the maternal mutation, thus predicting a normal skin phenotype. Both twins were born with normal-appearing skin. Our findings demonstrate that mutations of both alleles of the transglutaminase 1 gene are the cause of lamellar ichthyosis in this family, and illustrate an emerging clinical application of molecular genetics in dermatology

Electrosurgery and Implantable Electronic Devices: Review and Implications for Office‐Based Procedures

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/86867/1/j.1524-4725.2011.02006.x.pd

Internet Use and Anxiety in People with Melanoma and Nonmelanoma Skin Cancer

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/87178/1/j.1524-4725.2011.02124.x.pd

Clinicopathologic Features of Primary Merkel Cell Carcinoma: A Detailed Descriptive Analysis of a Large Contemporary Cohort

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98776/1/dsu12194.pd

The natural history of thin melanoma and the utility of sentinel lymph node biopsy

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/141184/1/jso24765_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/141184/2/jso24765.pd

Merkel cell carcinoma: Critical review with guidelines for multidisciplinary management

Merkel cell carcinoma (MCC) is a relatively rare cutaneous malignancy that occurs predominantly in the older white population. The incidence of MCC appears to have tripled during the past 20 years; an increase that is likely to continue because of the growing number of older Americans. The pathogenesis of MCC remains largely unknown. However, ultraviolet radiation and immunosuppression are likely to play a significant pathogenetic role. Many questions currently remain unanswered regarding the biologic behavior and optimal treatment of MCC. Large, prospective, randomized studies are not available and are unlikely to be performed because of the rarity of the disease. The objective of this review was to provide a comprehensive reference for MCC based on a critical evaluation of the current data. The authors investigated the importance of sentinel lymph node biopsy as a staging tool for MCC to assess the status of the regional lymph node basin and to determine the need for additional therapy to the lymph node basin. In an attempt to standardize prospective data collection with the intention to define prognostic indicators, the authors also present histopathologic profiles for primary MCC and sentinel lymph nodes. The controversies regarding the appropriate surgical approach to primary MCC, the use of adjuvant radiation therapy, and the effectiveness of adjuvant chemotherapy were examined critically. Finally, the authors have provided treatment guidelines based on the available evidence and their multidisciplinary experience. Cancer 2007. © 2007 American Cancer Society.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/56047/1/22765_ftp.pd

Forehead Donor Site Full-Thickness Skin Graft

Full-thickness skin grafts (FTSGs) are useful for reconstructing nasal defects. Traditional reported donor sites include the preauricular, postauricular, supraclavicular, clavicular, conchal bowl, melolabial fold, and upper eyelid skin. Selection of the “best” donor site is based on the “best” tissue match and ability to camouflage the donor scar. Objective The purpose was to report our experience with FTSGs harvested from the forehead for reconstruction of nasal defects following Mohs' surgery. Methods A retrospective query of the Mohs' surgery database was performed to identify nasal defects repaired with a FTSG harvested from the forehead skin. The research record contained the patient age and gender, defect size, and cosmetic and functional outcomes interpreted by the patient and surgeon. Results FTSGs from forehead skin were used to repair the nasal defects in three patients. The functional and cosmetic outcome of all three cases was deemed excellent by the patient and surgeon. Donor site scars were well concealed within preexisting rhytids. Conclusion FTSGs harvested from the forehead, although limited in practical utility, may offer an optimal FTSG match for limited select defects while also providing an easily camouflaged donor site scar within a forehead rhytid. VASSILIOS DIMITROPOULOS, MD, CHRISTOPHER K. BICHAKJIAN, MD, AND TIMOTHY M. JOHNSON, MD, HAVE INDICATED NO SIGNIFICANT INTEREST WITH COMMERCIAL SUPPORTERS.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/71819/1/j.1524-4725.2005.31082.pd