Key features ▪ The human neural tube is thought to close in an intermittent, multisite pattern, and neural tube defects that present as midline cutaneous lesions (e.g. cephaloceles, heterotopic brain tissue, rudimentary meningoceles) typically occur at the junction between two…
Introduction Primary immunodeficiencies represent a heterogeneous group of inherited disorders characterized by immune system defects that result in susceptibility to infections as well as additional manifestations such as autoimmunity, allergy, and malignancy. The molecular bases have been defined for >200…
Key features ▪ 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 ▪ McKusick's Online Mendelian Inheritance in Man (OMIM) database provides…
Key Points A variety of vascular lesions can serve as cutaneous signs of systemic disease. Telangiectasias or angiokeratomas with particular morphologies and distributions raise suspicion for an autoimmune connective tissue disease or a genetic disorder. Vascular anomalies are divided into…
Key Points Congenital melanocytic nevi (CMN) can have medical, cosmetic, and psychological consequences. The natural history of CMN may be dynamic and can include development of erosions and proliferative nodules during infancy, changes in pigmentation and topography, neurotization, and spontaneous…
Key Points The major determinant of human skin color and sensitivity to ultraviolet radiation (UVR) is the activity of melanocytes, i.e. the quantity and quality of pigment production, not the density of melanocytes. Melanocytes contain a unique lysosome-related intracytoplasmic organelle,…