Abstract This section focuses on genetic tumor predisposition syndromes that have characteristic mucocutaneous manifestations. Recognition of these skin findings facilitates diagnosis and surveillance for associated extracutaneous malignancies and endocrine abnormalities….
Abstract Palmoplantar keratoderma (PPK) represents a heterogeneous group of hereditary and acquired disorders of cornification characterized by hyperkeratosis of the skin on the palms and soles. Inherited PPK may occur…
Abstract The hair and nails develop through evolutionarily conserved mechanisms. They have a range of shared features, as both represent adnexal structures with specialized keratin constituents characterized by low water…
Abstract Primary immunodeficiencies represent a heterogeneous group of disorders characterized by increased susceptibility to infection. Many of these conditions have additional manifestations involving autoimmunity, allergy, lymphoproliferation, and risk of malignancy….
Abstract Advances in molecular technology have led to elucidation of the genetic bases of many single-gene inherited and mosaic skin disorders, greatly improving our understanding of these conditions. Genotype–phenotype correlations…
Abstract Darier disease and Hailey–Hailey disease are autosomal dominant genodermatoses caused by mutations in genes encoding Ca 2+ ATPase pumps in the endoplasmic reticulum (SERCA2) and Golgi apparatus (hSPCA1), respectively….
Abstract Morphea and lichen sclerosus are inflammatory skin diseases that lead to cutaneous sclerosis, and in a number of patients, significant morbidity. The underlying pathogenesis is a combination of vascular…
Abstract Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and nonmalignant conditions. However, its use is limited by the risk of graft-versus-host…
Abstract The main function of the epidermis is to provide a barrier between the organism and the environment, thereby protecting against harmful substances and water loss. This barrier is the…
Abstract Proper nutrition is fundamental to human life. From fetal development to adulthood, proper nutrition is essential for survival, physical growth, mental development, productivity, and overall health. The skin, hair,…
