The philtrum or medial cleft is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species.
Uveitis is inflammation of the uvea, the pigmented layer of the eye between the inner retina and the outer fibrous layer composed of the sclera and cornea. The uvea consists of the middle layer of pigmented vascular structures of the eye and includes the iris, ciliary body, and choroid. Uveitis is described anatomically, by the part of the eye affected, as anterior, intermediate or posterior, or panuveitic if all parts are involved. Anterior uveitis (iridocyclitis) is the most common, with the incidence of uveitis overall affecting approximately 1:4500, most commonly those between the ages of 20-60. Symptoms include eye pain, eye redness, floaters and blurred vision, and ophthalmic examination may show dilated ciliary blood vessels and the presence of cells in the anterior chamber. Uveitis may arise spontaneously, have a genetic component, or be associated with an autoimmune disease or infection. While the eye is a relatively protected environment, its immune mechanisms may be overcome resulting in inflammation and tissue destruction associated with T-cell activation.
The lips are a horizontal pair of soft appendages attached to the jaws and are the most visible part of the mouth of many animals, including humans. Vertebrate lips are soft, movable and serve to facilitate the ingestion of food and the articulation of sound and speech. Human lips are also a somatosensory organ, and can be an erogenous zone when used in kissing and other acts of intimacy.
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
Cheilitis is a medical condition characterized by inflammation of the lips. The inflammation may include the perioral skin, the vermilion border, or the labial mucosa. The skin and the vermilion border are more commonly involved, as the mucosa is less affected by inflammatory and allergic reactions.
The vermilion border, also called margin or zone, is the normally sharp demarcation between the lip and the adjacent normal skin. It represents the change in the epidermis from highly keratinized external skin to less keratinized internal skin. It has no sebaceous glands, sweat glands, or facial hair.
Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.
Rosselli–Gulienetti syndrome, also known as Zlotogora–Ogur syndrome and Bowen–Armstrong syndrome, is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare and has only been described in a few cases.
An immune disorder is a dysfunction of the immune system. These disorders can be characterized in several different ways:
Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the NOD2 (CARD15) gene. Symptoms usually begin before the age of four, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.
Interstitial granulomatous dermatitis with arthritis (IGDA) or Ackerman dermatitis syndrome is a skin condition that most commonly presents with symmetrical round-to-oval red or violet plaques on the flanks, armpits, inner thighs, and lower abdomen.
Palisaded neutrophilic and granulomatous dermaititis (PNGS) is usually associated with a well-defined connective tissue disease, lupus erythematosus or rheumatoid arthritis most commonly, and often presents with eroded or ulcerated symmetrically distributed umbilicated papules or nodules on the elbows.
Id reactions are types of acute dermatitis developing after days or weeks at skin locations distant from the initial inflammatory or infectious site. They can be localised or generalised. This is also known as an 'autoeczematous response' and there must be an identifiable initial inflammatory or infectious skin problem which leads to the generalised eczema. Often intensely itchy, the red papules and pustules can also be associated with blisters and scales and are always remote from the primary lesion. It is most commonly a blistering rash with itchy vesicles on the sides of fingers and feet as a reaction to fungal infection on the feet, athlete's foot. Stasis dermatitis, allergic contact dermatitis, acute irritant contact eczema and infective dermatitis have been documented as possible triggers, but the exact cause and mechanism is not fully understood. Several other types of id reactions exist including erythema nodosum, erythema multiforme, Sweet's syndrome and urticaria.
A lip lift is a plastic surgery procedure that modifies the cosmetic appearance of the lips by reshaping them to increase the prominence of the vermilion border; and to enhance the facial area above the lips into a more aesthetically pleasing shape. In corrective praxis, a lip lift procedure is distinguished from lip enhancement, the augmentation of the lips, which can be effected with a non-surgical procedure.
Rheumatoid neutrophilic dermatitis, also known as rheumatoid neutrophilic dermatosis, is a cutaneous condition associated with rheumatoid arthritis.
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.
Antisynthetase syndrome (ASS) is a multisystematic autoimmune disease associated with inflammatory myositis, interstitial lung disease, and antibodies directed against various synthetases of aminoacyl-transfer RNA. Other common symptoms include mechanic's hands, Raynaud's phenomenon, arthritis, and fever.
Primary juvenile glaucoma is a subtype of primary congenital glaucoma that develops due to ocular hypertension and is diagnosed between three years of age and early adulthood. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.
KBG syndrome is a rare genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3. Only about a hundred known cases have been reported, although it is expected to be under-reported.
