Innovative Laboratory Techniques to Facilitate Processing of Large Mohs Cases

Background Processing multiple tissue sections in large Mohs cases is time consuming and labor intensive.
Objective To present innovative laboratory techniques to facilitate processing of large Mohs cases.
Methods A method for processing a large dermatofibrosarcoma protuberans Mohs case is outlined.
Results Modifications in tissue processing and equipment employed in a large Mohs case are presented.
Conclusion Innovative modifications to the standard Mohs laboratory technique can facilitate processing of large Mohs cases, resulting in high-quality, rapid frozen sections while optimizing efficiency.     

Regional Variation in Wound Contraction of Mohs Surgery Defects Allowed to Heal by Second Intention

BACKGROUND: The phenomenon of wound contraction results in a decrease in wound size and a healed scar significantly smaller than the original defect. OBJECTIVE: This study was undertaken (1) to determine the amount of wound contraction in Mohs surgery defects allowed to heal by second intention, (2) to evaluate for regional differences in wound contraction based on the facial anatomic zones for second intention healing described by Zitelli, and (3) to determine whether regional differences in wound contraction account for observed differences in cosmetic outcome. METHODS: One hundred sixty secondarily healed Mohs surgery defects limited to the head and neck having a wound age of greater than 12 weeks in 102 consecutively examined patients were carefully measured with a tissue caliper. The percent wound contraction was calculated and compared for each Zitelli anatomic subunit. The final shape of the wound (quantitatively described) and the cosmetic acceptability (subjectively rated by the patient and examiner) were also compared with the percent wound contraction for each anatomic area. RESULTS: Both NEET (concave surface of the nose, eye, ear, and temple) and FAIR (forehead, antihelix, eyelids, and the remainder of the nose, lips, and cheeks) areas were identical in terms of mean wound contraction (74%), cosmetic acceptability (97%), and conversion to a wound shape with a ratio of maximal length to width of greater than 3.0 (fusiform and linear shapes) (52%). NOCH areas (convex surface of the nose, oral lips, cheeks and chin, and the helix of the ear) demonstrated less wound contraction (66%), cosmetic acceptability (78%), and fusiform-linear conversion (29%). Subset differences and variables that appear to influence wound contraction are discussed. Secondarily healed wounds in areas with one or more positive contraction variables contract 75%, whereas defects in areas with negative contraction variables contract 55%. CONCLUSIONS: Regional differences in wound contraction of secondarily healed head and neck wounds exist and account for some differences in cosmetic acceptability. Scar location, regardless of the degree of wound contraction, is the most important factor for the final cosmetic outcome.     

Ectodermal dysplasia,ectrodactyly and macular dystrophy (EEM syndrome) in siblings

We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition. © 2001 Wiley‐Liss, Inc.     

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat which encodes glutamine in the novel protein ataxin-1. In order to characterize the developmental expression pattern of SCA1 and to identify putative functional domains in ataxin-1, the murine homolog (Sca1) was isolated. Cloning and characterization of the murine Sca1 gene revealed that the gene organization is similar to that of the human gene. The murine and human ataxin-1 are highly homologous but the CAG repeat is virtually absent in the mouse sequence suggesting that the polyglutamine stretch is not essential for the normal function of ataxin-1 in mice. Cellular and developmental expression of the murine homolog was examined using RNA in situ hybridization. During cerebellar development, there is a transient burst of Sca1 expression at postnatal day 14 when the murine cerebellar cortex becomes physiologically functional. There is also marked expression of Sca1 in mesenchymal cells of the intervertebral discs during development of the spinal column. These results suggest that the normal Sca1 gene, has a role at specific stages of both cerebellar and vertebral column development.      

Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis

Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored. IM histogenesis is still poorly understood, despite immunohistochemical staining and ultrastructural features that suggest a myofibroblastic origin. IM diagnosis is often made difficult by the predominance of small primitive spindle cells over myofibrobasts and the presence of intravascular growth. Genetic information is scarce, with only one karyotyped case. Here we describe a case of solitary IM discovered at birth in an otherwise healthy girl. The tumor was well circumscribed, arranged in nodules and made up of ovoid cells without atypia, in a myxoid background. Immunohistochemical evaluation indicated a myofibroblastic differentiation. The cytogenetic and fluorescence in situ hybridization analyses revealed an abnormal chromosome 9, derived from an unbalanced whole-arm translocation between chromosomes 9 and 16. On both chromosomes, the breakpoints were located in the pericentric heterochromatic region. This clonal abnormality has not been reported in other tumors and is different from the chromosome 6q deletion reported in the single previous reported IM karyotype.     

Urinary antimony in infancy

OBJECTIVE: To determine whether antimony may be detected in the urine during infancy and early childhood and its association with passive exposure to tobacco smoke, as assessed by urinary cotinine. DESIGN: Analysis of spare aliquots of urine collected from infants participating in studies of respiratory function and passive smoking. Urinary antimony was assayed using inductively coupled plasma mass spectroscopy in 201 urine specimens collected at different ages throughout the first two years of life from 122 term and 26 preterm infants. Urinary cotinine was measured using gas liquid chromatography. MAIN OUTCOME MEASURE: Urinary antimony concentrations. RESULTS: Absolute antimony concentrations varied widely between infants, being below the laboratory detection limit of 0.02 microgram/l in 7% of samples, below 0.5 microgram/l in 90.5%, and above the reference value of 1 microgram/l reported for non-occupationally exposed UK populations in 4%. Creatinine standardised antimony values were unrelated to postnatal age or urinary cotinine concentrations and were highest in urine collected from preterm infants within 24 hours of birth (geometric mean (95% confidence interval): 2.3 ng/mg (1.5 to 3.4)). CONCLUSIONS: Although antimony is present at very low concentrations in urine during infancy and early childhood, the relevance to health is uncertain. The higher levels found in preterm infants may reflect prematurity or fetal assimilation of antimony. Tobacco is unlikely to be an important source of environmental exposure to antimony during infancy and early childhood.