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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 ...
Signs and symptoms. Dermatographic urticaria is sometimes called "skin writing", as it is possible to mark deliberate patterns onto the skin. The condition manifests as an allergic-like reaction, causing a warm red wheal to appear on the skin. As it is often the result of scratches, involving contact with other materials, it can be confused ...
Damaged cuticles, shortened and damaged nails, hangnails, bleeding, etc. 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.
Krabbe disease (KD) (also known as globoid cell leukodystrophy[3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
Reduced life expectancy. Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).
Ablepharon macrostomia syndrome. Ablepharon macrostomia syndrome has an autosomal dominant mode of inheritance. Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals.
Frequency. <1 in 100,000 infants. [ 1 ] Autoimmune enteropathy is a rare autoimmune disorder characterized by weight loss from malabsorption, severe and protracted diarrhea, and autoimmune damage to the intestinal mucosa. [ 1 ] Autoimmune enteropathy typically occurs in infants and younger children however, adult cases have been reported in ...
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive [2] lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialuria, OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern ...