Scientists at the National Institutes of Health (NIH) have discovered that the presence of a benign nail abnormality may lead to the diagnosis of a rare inherited disorder that increases the risk of developing cancerous tumors of the skin, eyes, kidneys and the tissue that lines the chest and abdomen (e.g., the mesothelium). The condition, known as BAP1 tumor predisposition syndrome, is caused by mutations in the BAP1 gene, which normally acts as a tumor suppressor, among other functions. The findings are published in JAMA Dermatology and will be presented today at the Society for Investigative Dermatology Annual Meeting in Dallas.
Scientists happened upon the discovery while studying participants who were enrolled in a screening for BAP 1 variants at the NIH Clinical Center. As part of the study, a dermatology screening was performed at enrollment and annually for participants aged 2 and older. The cohort in the current study included 47 individuals with BAP1 tumor predisposition syndrome from 35 families.
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However, among study participants with known BAP1 tumor predisposition syndrome aged 30 and older, 88% had onychopapilloma tumors affect multiple nails. Researchers suggest that nail screening may be particularly valuable in a patient with a personal or family history of melanoma or other potential BAP1-associated malignancy.
The study was supported by the intramural programs of NIAMS (ZIAAR041229) and NCI (ZIABC010816) and included collaborations with physicians at Walter Reed National Medical Center and the Joint Pathology Center.
About the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): The mission of the NIAMS, a part of the U.S. Department of Health and Human Services' National Institutes of Health, is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. For more information about NIAMS and its programs, visit
About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
A nail is a protective plate characteristically found at the tip of the digits (fingers and toes) of all primates, corresponding to the claws in other tetrapod animals. Fingernails and toenails are made of a tough rigid protein called alpha-keratin, a polymer also found in the claws, hooves and horns of vertebrates.[1]
The nail matrix is the active tissue (or germinal matrix) that generates cells. The cells harden as they move outward from the nail root to the nail plate.[3] The nail matrix is also known as the matrix unguis, keratogenous membrane, or onychostroma.[4] It is the part of the nail bed that is beneath the nail and contains nerves, lymph and blood vessels. The matrix produces cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, and thickness of the matrix, while the shape of the fingertip bone determines if the nail plate is flat, arched, or hooked. The matrix will continue to produce cells as long as it receives nutrition and remains in a healthy condition.[5] As new nail plate cells are made, they push older nail plate cells forward; and in this way older cells become compressed, flat, and translucent. This makes the capillaries in the nail bed below visible, resulting in a pink color.[citation needed]
The lunula ("small moon") is the visible part of the matrix, the whitish crescent-shaped base of the visible nail. The lunula can best be seen in the thumb and may not be visible in the little finger. The lunula appears white due to a reflection of light at the point where the nail matrix and nail bed meet.
The nail bed is the skin beneath the nail plate. It is the area of the nail on which the nail plate rests. Nerves and blood vessels found here supply nourishment to the entire nail unit. Like all skin, it is made of two types of tissues: the dermis and the epidermis. The epidermis is attached to the dermis by tiny longitudinal "grooves" called matrix crests (cristae matricis unguis).[3] In old age, the nail plate becomes thinner, and these grooves become more visible.[citation needed] The nail bed is highly innervated, and removal of the nail plate is often excruciatingly painful as a result.[citation needed]
The nail sinus (sinus unguis) is where the nail root is;[3] i.e. the base of the nail underneath the skin. It originates from the actively growing tissue below, the matrix.[citation needed]
The nail plate (corpus unguis)[3] sometimes referred to as the nail body, is the visible hard nail area from the nail root to the free edge, made of translucent keratin protein. Several layers of dead, compacted cells cause the nail to be strong but flexible. Its (transverse) shape is determined by the form of the underlying bone.[citation needed] In common usage, the word nail often refers to this part only. The nail plate is strongly attached to the nail bed and does not contain any nerves or blood vessels.
The free margin (margo liber) or distal edge is the anterior margin of the nail plate corresponds to the abrasive or cutting edge of the nail.[3]The hyponychium (informally known as the "quick")[6] is the epithelium located beneath the nail plate at the junction between the free edge and the skin of the fingertip. It forms a seal that protects the nail bed. The onychodermal band is the seal between the nail plate and the hyponychium. It is just under the free edge, in that portion of the nail where the nail bed ends and can be recognized in fair-skinned people by its glassy, greyish colour. It is not visible in some individuals while it is highly prominent on others.[citation needed]
Together, the eponychium and the cuticle form a protective seal. The cuticle is the semi-circular layer of almost invisible dead skin cells that "ride out on" and cover the back of the visible nail plate. The eponychium is the fold of skin cells that produces the cuticle. They are continuous, and some references view them as one entity. (Thus the names eponychium, cuticle, and perionychium would be synonymous,[7] although a distinction is still drawn here.) It is the cuticle (nonliving part) that is removed during a manicure, but the eponychium (living part) should not be touched due to risk of infection.[citation needed] The eponychium is a small band of living cells (epithelium) that extends from the posterior nail wall onto the base of the nail.[3] The eponychium is the end of the proximal fold that folds back upon itself to shed an epidermal layer of skin onto the newly formed nail plate.[contradictory] The perionyx is the projecting edge of the eponychium covering the proximal strip of the lunula.[3]
The nail wall (vallum unguis) is the cutaneous fold overlapping the sides and proximal end of the nail. The lateral margin (margo lateralis) lies beneath the nail wall on the sides of the nail, and the nail groove or fold (sulcus matricis unguis) are the cutaneous slits into which the lateral margins are embedded.[3]
The paronychium is the soft tissue border around the nail,[8] and paronychia is an infection in this area.The paronychium is the skin that overlaps onto the sides of the nail plate, also known as the paronychial edge. The paronychium is the site of hangnails, ingrown nails, and paronychia, a skin infection.
A healthy fingernail has the function of protecting the distal phalanx, the fingertip, and the surrounding soft tissues from injuries. It also serves to enhance precise delicate movements of the distal digits through counter-pressure exerted on the pulp of the finger.[2]The nail then acts as a counter-force when the end of the finger touches an object, thereby enhancing the sensitivity of the fingertip,[9] although the nail itself has no nerve endings.Finally, the nail functions as a tool enabling a so-called "extended precision grip" (e.g., pulling out a splinter in one's finger), and certain cutting or scraping actions.
In mammals, the growth rate of nails is related to the length of the terminal phalanges (outermost finger bones). Thus, in humans, the nail of the index finger grows faster than that of the little finger; and fingernails grow up to four times faster than toenails.[10]
In humans, fingernails grow at an average rate of approx. 3.5 mm (0.14 in) a month, whereas toenails grow about half as fast (approx. average 1.6 mm (0.063 in) a month).[11] Fingernails require three to six months to regrow completely, and toenails require twelve to eighteen months. Actual growth rate is dependent upon age, sex, season, exercise level, diet, and hereditary factors.[12] The longest female nails known ever to have existed measured a total of 8.65 m (28 ft 4.5 in).[13] Contrary to popular belief, nails do not continue to grow after death; the skin dehydrates and tightens, making the nails (and hair) appear to grow.[14]
Healthcare and pre-hospital-care providers (EMTs or paramedics) often use the fingernail beds as a cursory indicator of distal tissue perfusion of individuals who may be dehydrated or in shock.[16] However, this test is not considered reliable in adults.[17] This is known as the CRT or blanch test. The fingernail bed is briefly depressed to turn the nail-bed white. When the pressure is released, the normal pink colour should be restored within a second or two. Delayed return to pink color can be an indicator of certain shock states such as hypovolemia.[18][19] 152ee80cbc