Niacin (VitaminB3) deficiency results in pellagra with deficiency manifestation that mainly involves skin, Gastrointestinal tract and Central Nervous system and thus includes dermatitis, diarrhoea, dementia and if not treated results in death.
Dermatitis mainly focuses on sun exposed part of skin involving area around the neck (Casal’s necklace), hand and feet (glove like appearance).
Since Niacin strictly speaking is not a Vitamin, pellagra like symptoms could also be seen due to Pyridoxal phosphate, Tryptophan, Riboflavin and Iron deficiency since these are required for the formation of Niacin from Tryptophan (an amino acid).
Thus pellagra like symptoms is seen in Hartnup’s disease where defective absorption of tryptophan from intestine takes place and Carcinoid syndrome where Tryptophan is diverted for the formation of serotonin.
It is a neurological disorder where Wernicke’s encephalopathy and Korsakoff’s psychosis are acute and chronic phases respectively of the same disease.
Also known as cerebral beri beri is profoundly seen among chronic alcoholics. This is mainly because alcohol in the body reduces the thiamine (vitamin B1) absorption from the gastrointestinal tract and also conversion of thiamine to thiamine pyrophosphate (active form of thiamine).
It’s characterized by global confusion, opthalmoplegia, cerebral ataxia, memory loss, psychosis, retrograde and anterograde amnesia etc.
It is a skin infection which occurs in the floor of the mouth, underneath the tongue.It’s mainly a bacterial infection of streptococcus, staphylococcus etc. Primary site of infection is submandibular space (majority are odontogenic in etiology) Poor dental hygiene, trauma/ laceration in the mouth, recent tooth extraction is the main cause for this condition.Symptoms include progressive swelling of soft tissue, elevation and posterior displacement of tongue, pain/ tenderness in the floor of the mouth, difficulty in swallowing, drooling, fever, redness on neck associated with pain, ear ache etc.The most life threatening complication is air obstruction with mortality of 8%.
Also called Fibrodysplasia ossificans progressiva is a rare autosomal dominant disorder caused by the mutation of the gene ACVR1. It is the only known medical condition where one organ system changes into another. (A connective tissue disorder)Usual onset: Before the age of 10 with maximum life expectancy of 40 years. (Painful condition indeed with no treatment or cure)Mutations mainly affects body’s repair mechanism causing fibrous tissue including muscles, tendons and ligaments to be ossified either spontaneously or damaged as a result of trauma. Sometimes joints fuse themselves to form new bone. Bone growth generally progresses from the top of the body downwards just like ossification found in foetus.Signs: Malformed big toes, missing joints etc. Since the disorder is rare, it is often misdiagnosed as cancer/ fibrosis.
Main cause: canalithiasis/ cupulolithiasisTheoretically can affect each of three semicircular canal but most commonly posterior semicircular canal is affected.Common diagnostic manoeuvre: Dix-Hall pike manoeuvreSince posterior semicircular canal is the most gravity dependent part of vestibular labyrinth both in upright and supine position, once the debris enter into posterior canal, the cupular barrier in the shorter and more dependent end blocks the exit of debris.Patients complain of light-headedness, nausea, imbalance, reversal nystagmus and in severe cases, sensitivity to all direction of head movements also exists. In certain situation, though benign may become dangerous.Cause: idiopathicCommonly found age group: 50-70 yearsTerminologies used: Canalithiasis: free floating particle within the semicircular canal. Cupulolithiasis: particles adherent to cupula of semicircular canal.
Occulocutaneous albinism is a condition that mainly affects pigmentation of skin, hair, eyes. Affected individuals have very fair skin, light coloured hair with high risk of skin damage and are prone to even the most aggressive skin cancers like Melanoma.
Cause: Mutation in several genes including TYR, OCA2,TYRP1,SLC45A2 (gene responsible for producing melanin) Occulocutaneous albinism is characterised as Type I: whitish hair, paler skin, light coloured iris Type II: creamy white coloured skin, light yellow or blon hair Type III: usually affects dark skinned people. They posses reddish brown skin, red hair, brown iris. Type IV: similar to type I
Marfan syndrome is an inherited disorder, a rare genetic condition that mainly affects connective tissues and thus eventually heart, eyes, blood vessels, skeleton etc. They are usually tall and thin with disproportionately long arms, legs and fingers, protruding/ dipped breastbone, extreme nearsightedness, flat foot, heart murmurs etc.
It causes cardiovascular complications including aortic aneurysm, aortic dissection, valve malformations etc, eye complications including lens dislocation, retinal problems, early onset of cataracts etc, skeletal complications includes abnormal curves in the spines, arched palate and crowded teeth and complication of pregnancy also exist. Treatment usually includes medications to keep a low blood pressure. Abraham Lincoln is the most famous American who had Marfan syndrome.
Eskimos are believed to have a low incidence of coronary heart disease. They are actually indigenous people inhabiting northern Canada, Alaska, Greenland and eastern Siberia who traditionally live hunting seals and other arctic animals.
Bang and Dyerberg described Eskimo diet as consisting of large amount of seal and whale blubber (lipids containing unsaturated fatty acids). The predominant unsaturated fatty acids in fish food consumed by Eskimos are 5, 8, 11, 14, eicsapentaenoic acid (EPA). These mainly inhibits formation of thromboxanes, a prostaglandin related compound which is responsible for platelet aggregation and thrombosis.
It is an eating disease characterised with low body mass index, distorted perception of weight and intense fear of gaining the weight. To prevent the weight gain they control calorie intake by vomiting after eating, misusing laxatives, inappropriate use of diuretics/ enemas. They also try to loose weight by excessive exercise. It is a life threatening disorder with symptoms including high weight loss, abnormally low blood count, insomnia, absence of menstruation in females, constipation, abdominal pain, eroded teeth and calluses on the knuckles from induced vomiting.Some people with this condition may have obsessive compulsion personality traits that make it easier to stick to the strict diet plans. It is more common among teenagers.