P a g e | 1 Cyanosis Cyanosis is the abnormal blue discoloration of the skin and mucous membranes, caused by an increase in the deoxygenated haemoglobin level to above 5 g/dL. It can be difficult to detect, particularly in black and Asian patients. Central cyanosis Central cyanosis is caused by diseases of the heart or lungs, or abnormal haemoglobin (methaemoglobinaemia or sulfhaemoglobinaemia). Cyanosis is seen in the tongue and lips and is due to desaturation of central arterial blood resulting from cardiac and respiratory disorders .Patients who are centrally cyanosed will usually also be peripherally cyanosed. Associated features of central cyanosis depend on the underlying cause and include dyspnoea(difficult breathing), and tachypnoea (abnormal rapid breathing) secondary polycythaemia and bluish or purple discolouration of the oral mucous membranes, fingers and toes. The hands and feet are usually normal temperature or warm but not cold unless there is an associated poor peripheral circulation. Peripheral cyanosis Peripheral cyanosis results from decreased local blood circulation in the peripheral organs, arms and legs. This is commonly seen if the arterial blood stagnates (cessation of motion) too long in the limbs and loses most of its oxygen. Limbs appear bluish and are usually cold to touch. Peripheral cyanosis is most intense in nail beds. Melanin Melanin: The pigment that gives human skin, hair,the choroid of the eyes and the substantia nigra of the brain their color. Dark-skinned people have more melanin in their skin than light- skinned people have. Melanin is produced by cells called melanocytes. It provides some protection again skin damage from the sun, and the melanocytes increase their production of melanin in response to sun exposure. P a g e | 2 Melanocytes are melanin-producing neural-crest derived cells located in the bottom layer (the stratum basale) of the skin's epidermis, the middle layer of the eye (the uvea), the inner ear, meninges, bones, and heart. Melanin is the pigment primarily responsible for skin color. Causes of abnormal melanin production (Underproduction) Condition Mechanism Autoimmune destruction of melanocytes Vitiligo (patchy depigmentation) Genetic deiciency of tyrosinase Albinism Reduced pituitary secretion of Hypopituitarism melanotrophic peptides, growth hormone and sex steroids Patch= A small circumscribed (ববষন করর) area distinct from the surrounding surface in character and appearance. Vitiligo This chronic condition produces bilateral symmetrical depigmentation, commonly of the face, neck and extensor aspects of the limbs, resulting in irregular pale patches of skin. It is associated with autoimmune diseases, e.g. diabetes mellitus, thyroid and adrenal disorders, and pernicious anaemia. ( Pernicious anemia occurs when your body can’t absorb enough vitamin B-12) P a g e | 3 Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. Photophobia= unusual intolerance of light Nystagmus=involuntary back and forth or cyclical movement of the eye Amblyopia= when the vision in one of the eyes is reduced because the eye and the brain are not working together properly Overproduction of melanin This can be due to excess of the pituitary hormone, adrenocorticotrophic hormone, as in adrenal insuficiency. It produces brown pigmentation, particularly in skin creases, recent scars, sites overlying bony prominences, areas exposed to pressure, e.g. belts and bra straps, and the mucous membranes of the lips and mouth, where it results in muddy brown patches. Pregnancy and oral contraceptives These may produce chloasma (blotchy pigmentation of the face). Pregnancy increases pigmentation of the areolae, axillae, genital skin and a linea nigra (dark line in the midline of the lower abdomen). Blotch=spot/discoloration on the skin P a g e | 4 Carotene Hypercarotenaemia occurs in people who eat large amounts of raw carrots and tomatoes, and in hypothyroidism. A yellowish discoloration is seen on the face, palms and soles, but not the sclerae, and this distinguishes it from jaundice. Bilirubin ( 0.2 to 1.2 mg/dL ) Jaundice is detectable when serum bilirubin concentration is elevated and the sclerae, mucous membranes and skin become yellow. In longstanding jaundice a green colour develops in the sclerae and skin due to biliverdin. Patients with pernicious anaemia have a lemon-yellow complexion due to a combination of mild jaundice and anaemia. Iron Haemochromatosis increases skin pigmentation due to iron deposition and increased melanin production. Iron deposition in the pancreas causes diabetes mellitus and the combination with skin pigmentation is called ‘bronzed diabetes’. Haemosiderin, a haemoglobin breakdown product, is deposited in the skin of the lower legs following extravasation of blood into subcutaneous tissues from venous insuficiency. Local deposition of haemosiderin (erythema ab igne or ‘granny’s tartan’) occurs with heat damage to the skin from sitting too close to a fire or from P a g e | 5 applying local heat, such as a hot water bottle, to the site of pain. Hemochromatosis=a genetic disease marked by excessive absorption and accumulation of iron in the body Hemosiderin=an iron containing pigment derived from HB Extravasation= the escape of fluid from its physiologic contained space. E.g. bile,blood,CSF into the surrounding tissue. Erythema=reddening of the skin caused by dilation of superficial blood vessels Erythema ab igne=localized erythema due to exposure to heat Easy bruising Bruise= to break A traumatic injury ( usually to the skin but sometimes to internal organ) in which blood vessels are broken but tissue surfaces remain intact. Discoloration, swelling,inflammation and pain are typical signs and symptoms. Bruising in the elderly is more often an indication of the use of anticoagulant drugs than of physical mistreatment. Spot diagnoses Many disorders have characteristic facial features. Osteogenesis imperfect=an inherited disorder of the connective tissue marked by defective bone formation in which the sclerae are blue due to abnormal collagen formation. P a g e | 6 Telangiectasia Telos=end, angeion=vessel, ektasis=dilatation Systemic Sclerosis (SS) Sclerosis= A hardening of an organ or tissue esp. that due to excessive growth of fibrous tissue Systemic sclerosis (SS) is an autoimmune disorder. This means it’s a condition in which the immune system attacks the body. Healthy tissue is destroyed because the immune system mistakenly thinks it’s a foreign substance or infection. There are many kinds of autoimmune disorders that can affect different body systems. SS is characterized by changes in the texture and appearance of the skin. This is due to increased collagen production. Collagen is a component of connective tissue. Beaking nose=The nose is parrot-beaked and the upper lip is short. Major chromosomal abnormalities P a g e | 7 P a g e | 8 Cataract=an opacity of the lens of the eye usually occurring as a result of aging, trauma, endocrine or metabolic disease, intraocular disease. It is the most common cause of blindness in adults. Atresia=congenital absence or closure of a normal body opening or tubular structure Duodenal atresia, also known as duodenojejunal atresia, is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Most cases of Hirschsprung disease are diagnosed in the newborn period. Alzheimer's disease is a progressive disease that destroys memory and other important mental functions. At first, someone with Alzheimer's disease may notice mild confusion and difficulty remembering. Eventually, people with the disease may even forget important people in their lives and undergo dramatic personality changes. Alzheimer's disease is the most common cause of dementia — a group of brain disorders that cause the loss of intellectual and social skills. In Alzheimer's disease, the P a g e | 9 brain cells degenerate and die, causing a steady decline in memory and mental function. To know more about alzheimer’s disease you can see—a moment to remember (very heart touching south Korean movie) , A separation ( realistic parsian movie) Squint=unable to direct both eyes simultaneously toward a point Brushfield spots are small, white or grayish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue, a normal iris element. Brachycephaly (from Greek roots meaning "short" and "head") is the shape of a skull shorter than typical for its species. Epicanthus= a vertical fold of skin extending from the root of the nose to the median end of the eyebrow Myoclonus=twitching of a muscle P a g e | 10 Turner Syndrome Patients look like CLOWNS (only to remember its features): C - Cardiac anomalies (most common - coarctation of aorta) P a g e | 11 L - Lymphoedema, low thyroid O - Ovaries under developed (streak ovaries) W - Webbed neck (broad neck) N - Nipples widely placed S - Short stature, Sensoneural hearing loss, Short 4th metacarpal *for more add ABC A - primary Amenorrhea B - absent Barr body C - Cystic fibrosis Coarctation of the aorta (CoA or CoAo), also calledaortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts. The word “coarctation” means narrowing. Cystic=bladder Fibrosis=the repair and replacement of inflamed tissue or organs by fibroblast Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs.