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Lesch–Nyhan syndrome. Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]
Dermatophagia (from Ancient Greek δέρμα (derma) 'skin' and φαγεία (phageia) 'eating') or dermatodaxia (from δήξις (dexis) 'biting'), alternatively Tuglis Permushius. [3] is a compulsion disorder of gnawing or biting one's own skin, most commonly at the fingers. This action can either be conscious or unconscious [4] and it is ...
Fingernails of a nail-biter. Nail biting, also known as onychophagy or onychophagia, is an oral compulsive and unhygienic habit of biting one's fingernails. It is sometimes described as a parafunctional activity, the common use of the mouth for an activity other than speaking, eating, or drinking. Nail biting is very common, especially amongst ...
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal ...
Frequency. 1 in 12,000 to 20,000 people [6] Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep ...
Autophagia. Autophagia is the practice of biting/consuming one's body. It is a sub category of self-injurious behavior (SIB). [1] Commonly, it manifests in humans as nail biting and hair pulling. In rarer circumstances, it manifests as serious self mutilative behavior such as biting off one's fingers. [2] Autophagia affects both humans and non ...
Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which the spasm of small arteries causes episodes of reduced blood flow to end arterioles. [1] Typically the fingers, and, less commonly, the toes, are involved. [1] Rarely, the nose, ears, nipples, or lips are affected. [1]
Specialty. Dermatology. Psychiatry. Excoriation disorder, more commonly known as dermatillomania, is a mental disorder on the obsessive–compulsive spectrum that is characterized by the repeated urge or impulse to pick at one's own skin, to the extent that either psychological or physical damage is caused. [4][5]