3 Interesting Facts of Aplasia Cutis Congenita Aplasia cutis congenita (APC) is an uncommon disorder (~3 cases/100,000 births) but is the most common cause of a congenital scarring alopecia. No treatment is required. Conservative intervention, particularly to promote healing when ulceration is present, includes topical petrolatum, silver sulfadiazine cream, or dressings that contain epidermal growth …
Ataxia Telangiectasia Ataxia telangiectasia (AT) is a rare autosomal recessive disorder of childhood that results from defective DNA repair mechanisms. AT is a multisystem disease characterized by progressive cerebellar ataxia, choreoathetosis, oculocutaneous telangiectasias, frequent infections, increased sensitivity to ionizing radiation, and predisposition to malignancies. Epidemiology & Demographics Incidence 1/40,000 live births; it is estimated that …
8 Interesting Facts of Autoimmune Hemolytic Anemia Autoimmune hemolytic anemia is a rare heterogenous disorder in which autoantibodies target RBC antigens, resulting in the premature destruction of RBCs with inadequate compensation Classified into warm autoimmune hemolytic anemia and cold autoimmune hemolytic anemia based on the optimal autoantibody-RBC reactivity temperatures, both of which may be primary …
Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis (HPP) is a rare neuromuscular disorder caused by a muscle ion channel defect, resulting in painless muscle weakness with associated low potassium blood levels. Total-body muscle weakness may occur periodically with either a true potassium deficit or, more commonly, a potassium shift intracellularly. Synonyms Periodic paralysis Hypokalemic nonperiodic paralysis …
10 Interesting Facts of Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome is a rare congenital heart condition in which left-sided heart structures are variably underdeveloped and unable to support the systemic circulation Prenatal diagnosis through routine ultrasonography screening is the most common presentation A minority of neonates without known prenatal diagnosis are discharged from newborn …
Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones CAH is a mitochindrial disease. CAH effects the adrenal glands located at the top of each kidney. Congenital adrenal hyperplasia (CAH) is a spectrum of disorders …
6 Interesting Facts of Congenital Megacolon Congenital megacolon is defined by the absence of enteric neurons in the distal colon Age of presentation and the type of symptoms that occur vary dramatically among patients Failure to pass meconium within 48 hours of delivery is the classic presentation of congenital megacolon in neonates After newborn period, …