Alopecia areata, also known as spot baldness, is a condition in which hair is lost from some or all areas of the body. It often results in a few bald spots on the scalp, each about the size of a coin. Psychological stress and illness are possible factors in bringing on alopecia areata in individuals at risk, but in most cases there is no obvious trigger. People are generally otherwise healthy. In a few cases, all the hair on the scalp is lost, or all body hair is lost. Hair loss can be permanent, or temporary.
Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
Telogen effluvium is a scalp disorder characterized by the thinning or shedding of hair resulting from the early entry of hair in the telogen phase. It is in this phase that telogen hairs begin to shed at an increased rate, where normally the approximate rate of hair loss is 125 hairs per day.
Keratosis pilaris is a common, autosomal-dominant, genetic condition of the skin's hair follicles characterized by the appearance of possibly itchy, small, gooseflesh-like bumps, with varying degrees of reddening or inflammation. It most often appears on the outer sides of the upper arms, thighs, face, back, and buttocks; KP can also occur on the hands, and tops of legs, sides, or any body part except glabrous (hairless) skin. Often the lesions can appear on the face, which may be mistaken for acne or folliculitis.
Tinea capitis is a cutaneous fungal infection (dermatophytosis) of the scalp. The disease is primarily caused by dermatophytes in the genera Trichophyton and Microsporum that invade the hair shaft. The clinical presentation is typically single or multiple patches of hair loss, sometimes with a 'black dot' pattern, that may be accompanied by inflammation, scaling, pustules, and itching. Uncommon in adults, tinea capitis is predominantly seen in pre-pubertal children, more often boys than girls.
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles.
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis. Meleda Disease is a skin condition which usually can be identified not long after birth. This is a genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease can advance to other parts of the body. Signs of the disease include thickening of the skin, on hands and soles of feet, which can turn red in color. There currently is no cure and treatment is limited, but Acitretin can be used in severe cases.
Albinism-black lock-cell migration disorder is the initialism for the following terms and concepts that describe a condition affecting a person's physical appearance and physiology: (1) A – albinism, (2) B – black lock of hair, (3) C – cell migration disorder of the neurocytes of the gut, and (4) D – sensorineural deafness. The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB).
Dermatoscopy, also known as dermoscopy or epiluminescence microscopy, is the examination of skin lesions with a dermatoscope. It is a tool similar to a camera to allow for inspection of skin lesions unobstructed by skin surface reflections. The dermatoscope consists of a magnifier, a light source, a transparent plate and sometimes a liquid medium between the instrument and the skin. The dermatoscope is often handheld, although there are stationary cameras allowing the capture of whole body images in a single shot. When the images or video clips are digitally captured or processed, the instrument can be referred to as a digital epiluminescence dermatoscope. The image is then analyzed automatically and given a score indicating how dangerous it is. This technique is useful to dermatologists and skin cancer practitioners in distinguishing benign from malignant (cancerous) lesions, especially in the diagnosis of melanoma.
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.
Pili torti is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Atrichia with papular lesions is a diffuse hair loss caused by an abnormality of the human homologue of the mouse hairless gene.
Pili annulati is a genetic trait in which the hair seems 'banded' by alternating segments of light and dark color when seen in reflected light.
Non scarring hair loss, also known as noncicatricial alopecia is the loss of hair without any scarring being present. There is typically little inflammation and irritation, but hair loss is significant. This is in contrast to scarring hair loss during which hair follicles are replaced with scar tissue as a result of inflammation. Hair loss may be spread throughout the scalp (diffuse) or at certain spots (focal). The loss may be sudden or gradual with accompanying stress.
Trichoscopy is a method of hair and scalp evaluation and is used for diagnosing hair and scalp diseases. The method is based on dermoscopy. In trichoscopy hair and scalp structures may be visualized at many-fold magnification. Currently magnifications ranging from 10-fold to 70-fold are most popular in research and clinical practice.
Antonella Tosti is an Italian physician and scientist with major contributions in the field of dermatology, including developing dermoscopy for the diagnosis and care of hair diseases, a world recognized expert in hair disorders. Her contributions to knowledge about nails include research about videodermoscopy of the hyponychium and the nail plate.
Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale. It is often associated with patchy alopecia.
Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits. However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene. however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.
Lidia Rudnicka is a Polish-American dermatologist with contributions to the field of scleroderma research, hair diseases and melanoma prevention.
