Mosaic STIM1 Variant Associated with Epidermal Nevus

Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own...

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,...

The skin is divided into epidermis, dermis, and hypodermis, the skin's outermost, middle, and inner layers. The human epidermal layer regularly undergoes renewal, where old, dead cells are replaced by new cells. Epidermal stem cells or EpiSCs divide and differentiate to restore the lost cells. For the renewal process, some EpiSCs continuously self-renew. In contrast, few others differentiate into transit-amplifying cells, which later form prickle or spinous cells, followed by granular...

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen...

The epidermis is made of four or five layers of epithelial cells, depending on its location in the body. From deep to superficial, these layers are the stratum basale, stratum spinosum, stratum granulosum, stratum lucidum, and stratum corneum.
The cells in all these layers except the stratum basale are called keratinocytes, a type of cell that manufactures and stores the protein keratin. The keratinocytes in the stratum corneum are dead and regularly slough away, being replaced by cells from...