Pachyonychia Congenita with Abnormalities of the Hair

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Nails are one of the important accessory structures of the skin. They are hard, protective structures that cover the dorsal surface of the distal phalanges of fingers and toes. Nails are composed of specialized keratinized cells and serve various functions, including protection, sensation, and manual dexterity.
The main components of a nail include the following.
Nail Plate: The nail plate is the visible portion of the nail that extends beyond the fingertips or toes. It is a hard, translucent...

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...

Hair growth begins with the production of keratinocytes by the basal cells of the hair bulb. As new cells are deposited at the hair bulb, the hair shaft is pushed through the follicle toward the surface. Keratinization is completed as the cells are pushed to the skin surface to form the shaft of hair that is externally visible. The external hair is completely dead and composed entirely of keratin. Hair can be cut or shaven without damaging the hair structure because the cut is superficial. Most...

The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...

Hair and hair follicles are integral components of the integumentary system. Hair is a filamentous structure composed mainly of a protein called keratin. It is found on the surface of the skin throughout the body, except for areas such as the palms of the hands and soles of the feet.
Hair is a keratinous filament growing out of the epidermis. It is primarily made of dead, keratinized cells. Hair strands originate at the epidermal penetration called the hair follicle. The hair shaft is the part...