This chapter discusses genetic skin diseases that are not covered in other chapters, including conditions featuring extracutaneous tumorigenesis, enzyme deficiencies, premature aging, and ectodermal dysplasia. Disorders Featuring Extracutaneous Tumorigenesis Cowden Syndrome and OtherForms of PTEN Hamartoma Tumor Syndrome Spectrum of…
A mosaic organism is composed of ≥2 genetically distinct cell populations derived from a homogeneous zygote. – Genomic mosaicism results from alteration in the DNA sequence, affecting genes or chromosomes – Functional (epigenetic) mosaicism results from changes in gene expression…
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Ichthyoses and erythrokeratodermas represent a diverse group of disorders of cornification, which are characterized by a defective epidermal barrier due to abnormal differentiation and/or desquamation of keratinocytes. Ichthyoses feature diffuse scaling of the skin, often in a widespread distribution, whereas…
Introduction Recognizing the skin signs of systemic disease is an important aspect of dermatology; however, the vast number of cutaneous manifestations, combined with the infrequency with which each sign is encountered, can be daunting. The approach in this chapter is…
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Malnutrition Poor nutrition resulting from an insufficient or poorly balanced diet or from defective digestion or utilization of foods. Malnutrition encompasses both deficiencies and excesses (e.g. obesity) ( Fig. 43.1 ; Tables 43.1 and 43.2 ). Table 43.1 Malnutrition-deficiency syndromes…