Genetic skin disorders, 2nd ed
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Virginia P Sybert
- ناشر : New York : Oxford University Press
- چاپ و سال / کشور: 2010
- شابک / ISBN : 9780195397666
Description
DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS The term ichthyosis refers to a group of disorders that have in common scaling of the skin. The term itself has come under criticism; disorders of keratinization and disorders of cornifi cation have been proposed as more fi tting and inclusive labels. The historical and colloquial popularity of ichthyosis is likely to keep its usage alive, despite its orthographical complexity (how many “h”s are there?). These disorders have been classifi ed on the basis of clinical and histologic features and, more recently, biochemical and molecular markers. Prognosis, recurrence risk, and accurate prenatal diagnosis depend on the correct diagnosis. To differentiate ichthyosis vulgaris from sterol sulfatase defi ciency has signifi cant implications for families. The recognition of Sjögren-Larsson syndrome in a child with a lamellar ichthyosis is critical. It has been my experience in dealing with the ichthyoses that a signifi cant proportion of patients appear not quite to fi t into a specifi c recognized category. As with other disorders for which the genetic basis has been elucidated, it is highly likely that even within a single diagnostic category allelic and nonallelic differences will be found (e.g., bullous congenital ichthyosiform erythroderma can result from different mutations in different keratins), and many families will be found to have private mutations. Ichthyosis or extremely dry, scaling skin can be a feature in inherited disorders that result in malabsorption and malnutrition. These are not included in this DISORDERS OF EPIDERMAL APPENDAGES METABOLIC DISEASE IMMUNE DEFICIENCY DISEASES Appendix B: Differential Diagnosis by Skin Sign LYMPHEDEMA
