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Delusional parasitosis. Delusional parasitosis (DP) is a mental disorder in which individuals have a persistent belief that they are infested with living or nonliving pathogens such as parasites, insects, or bugs, when no such infestation is present. They usually report tactile hallucinations known as formication, a sensation resembling insects ...
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]
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 ...
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events ...
Peeling skin syndrome 1. Peeling skin syndrome 1 is caused by a genetic defect in the corneodesmosin (CDSN) gene. This gene localizes to the human epidermis and other epithelia. The protein experiences a chain of cleavages during corneocyte maturation. [6] Its symptoms include short stature, abnormality of metabolism/homeostasis, scaling skin ...
Onychotillomania can be categorized as a body-focused repetitive behavior in the DSM-5 and is a form of skin picking, also known as excorciation disorder. It can be associated with psychiatric disorders such as depressive neurosis, delusions of infestation and hypochondriasis. It was named by Jan Alkiewicz, a Polish dermatologist.
Stereotypic movement disorder ( SMD) is a motor disorder with onset in childhood involving restrictive and/or repetitive, nonfunctional motor behavior (e.g., hand waving or head banging), that markedly interferes with normal activities or results in bodily injury. [1] To be classified as SMD, the behavior in question must not be due to the ...
Rumination syndrome, or merycism, is a chronic motility disorder characterized by effortless regurgitation of most meals following consumption, due to the involuntary contraction of the muscles around the abdomen. [1] There is no retching, nausea, heartburn, odour, or abdominal pain associated with the regurgitation as there is with typical ...