Profiles in Rare Diseases

Profile in Rare Diseases

batten disease

Batten Disease

Batten disease—also known as Spielmeyer-Vogt-Sjögren-Batten disease—is a rare, fatal autosomal-recessive neurodegenerative disorder named for the British pediatrician who identified the condition in 1903. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCLs).
Mad Cow Disease

Mad Cow Disease

The official name for mad cow disease is bovine spongiform encephalopathy (BSE). BSE is a fatal disease that attacks the nervous system of cattle.
Alice in Wonderland Syndrome

Alice in Wonderland Syndrome

Todds syndrome, more frequently referred to as Alice in Wonderland syndrome (AIWS), is a disorienting neurological condition that primarily targets children.
Christmas Disease

Christmas Disease

Once known as the Royal Disease, hemophilia B is a rare bleeding disorder that stems from a defect in a specific clotting factor: factor IX. Factor IX, or F9, is a specialized protein needed in the coagulation cascade and the formation of a stable fibrin clot. Hemophilia B was once called the Royal Disease because Queen Victoria of England passed the factor IX mutation through several royal families in Europe. It is inherited in a recessive, X-linked fashion. Because of its mode of inheritance, males are primarily affected and become symptomatic, whereas females are mainly carriers. Queen Victorias eighth child, Prince Leopold, Duke of Albany, was a hemophiliac and died as a result of this disease at the age of 31. One may say that Queen Victoria was the Royal Diseases patient zero. Two of her five daughters, Alice and Beatrice, inherited the defective gene and became carriers like their mother. Beatrice passed it into the Spanish bloodline and Alice passed it into Russian and German bloodlines.
Kawasaki Disease

A Disease Scattered to the 4 Winds

In 2013, a mother arrived at a Texas clinic with her 4-year-old son in tow. Three weeks earlier, he had been diagnosed with ringworm and given an antifungal (griseofulvin), but he had recently stopped eating. Concerned about his loss of appetite, she patiently waited for a doctor to see her son. When the doctor finally saw them, she informed him that it had been 2 days since her son ate. He also had begun to develop a rash on his face, trunk, and extremities and had some nasal congestion and an occasional cough. The doctor conducted a physical exam on the boy but there was nothing extraordinary other than his presenting symptoms: a sand paper–like erythematous rash and reddish mucosal tissue in his mouth and throat. He wasnt feverish, his cough was not persistent, and a rapid strep test was negative. Believing he had contracted a virus, the doctor sent him home to rest.
Epidermodysplasia Verruciformis

EV: The Other HPV

It was once a pervasive theory that warts come from playing with toads and frogs, but it is now nothing more than an old wives’ tale. Today, for most people, it is an absurd concept. But it is derived from an old medical axiom, which is really medical folklore, about “like producing like.” Simply put, because toads and frogs have wart-like bumps, playing with them transfers those wart-like bumps to humans. Forget about the fact that frogs are smooth, or the fact that neither actually have warts. It was a simple and easy way to understand and explain an unknown phenomenon. In fact, it would not be surprising if this folklore were still passed down from parent to child in some remote corner of this country.
Gut Fermentation Syndrome

Gut Fermentation Syndrome

Gut fermentation syndrome, also known as auto-brewery syndrome or syndrome A and endogenous ethanol fermentation, is a rare disorder with few reported cases. Based on existing literature, it is more predominant in Japan than in the US, but even in Japan, it is extremely rare. A quick Internet search produces 341,000 results, with mostly media articles in the top 10 and, further down, lawyers soliciting their services for DUI offences. It’s interesting that most of the reports were about a single case that appeared in the International Journal of Clinical Medicine. Of course, sensationalism sells, and with headlines such as “Texas man’s ‘beer gut’ turns food into alcohol” and “Auto-brewery syndrome: man’s belly brews beer,” you can’t help but attract readers, but is it misleading? Based on the headlines alone, one may assume that beer bellies turn food into alcohol, or literally brew beer. What is it about this case study that has lawyers champing at the bit?
Clues to an Old World Mystery From a New World Disease

Clues to an Old World Mystery From a New World Disease

In 1993, a mysterious outbreak unnerved residents and bewildered investigators in the Four Corners region of the southwest US. Late in the morning on May 14, paramedics rushed a 19-year-old Navajo man suffering from acute respiratory failure to the Indian Medical Center in Gallup, New Mexico. Paramedics and doctors alike were unable to resuscitate him. Postmortem X-rays revealed his lungs were filled with fluid. Even more puzzling was the fact that this young man was healthy and athletic. He was a track star with no history of illness except for mild flu-like symptoms a few days earlier. Because his death was unexplained, medical reports and his body were turned over to the Office of the Medical Investigator for further review and autopsy.
New Vascular Disease ACDC

ACDC

In 2008, the NIH launched the Undiagnosed Diseases Program (UDP). The UDP is a collaborative effort that spans across multiple disciplines such as the National Human Genome Research Institute (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.
The Radium Girls

The Radium Girls

Around the turn of the 20th century, scientific advancements occurred at a record pace. From Maxwell’s theory of electromagnetic waves to Einstein’s theories of relativity, long-standing mysteries of the universe were revealed. Medical discoveries also progressed feverishly. Countless lives were saved because of the practice of using antiseptics during surgery. The theory of germs gave us a greater understanding into the transmission of disease. Vaccines for cholera, anthrax, rabies, tetanus, diphtheria, typhoid fever, pertussis, tuberculosis, the plague, and many others were developed. In 1901, the ABO system of blood typing was successfully used for safer transfusions. Felix Hoffman developed aspirin from willow tree bark. The discovery of X-rays revolutionized diagnostic medicine, and the theory of radioactivity was proposed by Marie and Pierre Curie. An optimistic future lay ahead, but instead of cautiously navigating through this new field of radioactivity, arrogance and greed blazed the trail. Such is the story of the Radium Girls.
Jumping Frenchmen of Maine

Jumping Frenchmen of Maine

Evolutionarily speaking, the fight or flight response is a hard-wired physiological reaction that has kept us alive for millennia. It can be argued that without that response we may have never traveled from the great plains of Africa to Europe, Asia, and beyond. The process is the same for every person: some external stimulus triggers a cascade of events. First the amygdala signals the hypothalamus. The hypothalamus then triggers the pituitary gland to release adrenocorticotropic hormone (ACTH) and it also triggers the adrenal glands. The adrenal glands release cortisol and adrenaline, causing a cascade of physiological responses.
Acromegaly and Gigantism

Acromegaly and Gigantism

Throughout history, folklore, and every culture, stories about giants have persisted. The mythos surrounding them elicits memories of simpler times. Growing up, most children are made aware of Jack’s giant (Jack and the Beanstalk) or how Paul Bunyan carved the Grand Canyon by dragging his ax behind him. Giants have been portrayed as grotesque brutes and less than human, as is the case with Jack’s giant or the Cyclops from Greek mythology. Sometimes, giants are extremely agreeable and pleasant, such as the lovable gentle giant Fezzik in The Princess Bride. Giants may also represent monolithic feats or something that must be conquered, as is the case with the story of David and Goliath. Virtually every religion references giants, typically as creatures in the early days of mankind. In fact, giants have such a connection to religion that in recent years there have been several hoaxes involving giants that attempt to confirm biblical accounts. One of the more famous giant hoaxes occurred in Cardiff, New York, in 1869. The Cardiff giant was deliberately sculpted and buried at a farm in New York State by George Hull, a self-proclaimed atheist. The fake fossil was carved out of gypsum and measured over 10 feet long. Immediately upon its discovery, it was deemed a fake. However, that didn’t deter swarms of people from flocking to New York and shelling out 50 cents to see the real-life Goliath. As the rumor mill ramped up, declaring that the Cardiff giant was evidence of the Bible’s accuracy, P.T. Barnum wanted to cash in too. Barnum tried to rent the giant for his traveling circus but was turned down. Undeterred, Barnum created his own fake Cardiff giant and, interestingly enough, Barnum’s fake fossil was more popular than the original.
Fregoli Syndrome

Murder, Intrigue, and a Case Involving Fregoli Syndrome?

On January 26, 1996, the Newtown, PA police and 3 SWAT teams surrounded the du Pont mansion on the Foxcatcher estate, about 15 miles west of Philadelphia. Earlier that day, John du Pont, the chemical company heir, shot and killed his longtime friend, Dave Schultz, 36, an Olympic gold medalist in freestyle wrestling. Armed with several guns, du Pont refused to surrender to police and held up in his mansion. A standoff commenced. It was particularly cold, and after 2 days, the police shut off the power and heat. When Mr. du Pont went outside to investigate, they captured him.
Congenital Adrenal Hyperplasia

CAH: Making Better Wives and Mothers Through Pharmaceuticals

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal recessive disorders affecting the endocrine system. The disease affects production pathways for glucocorticoids (GCs) and mineralocorticoids (MCs) such as cortisol and aldosterone. In affected individuals, cortisol levels do not normalize, resulting in a runaway steroidogenesis process and an overabundance of androgens (male sex hormones). Individuals with CAH develop adrenal hyperactivity and abnormally large adrenal glands (hyperplasia). Symptoms may be mild or severe and presentations may vary from ambiguous female genitalia, underdeveloped male genitalia, precocious pseudopuberty, skeletal malformations, to a very serious salt-wasting crisis. Some females may present with symptoms that resemble polycystic ovarian syndrome (PCOS), displaying unusual excessive hair growth, irregular or absent menstrual cycles, and anovulation (lack of an ovum release during menstruation).
Hereditary Sensory and Autonomic Neuropathy Type I and Type II

Born Painless (HSAN II and III)

Unlike hereditary sensory and autonomic neuropathy type I (HSAN I), HSAN II and HSAN III are inherited in an autosomal recessive pattern. Both conditions are characterized by a deficit in distal sensory perception, with the lower limbs more severely affected than the upper limbs. Touch and temperature perception are affected to varying degrees in these individuals, with some depressed deep tendon reflexes. However, their ability to sense vibration may be normal. The extent of autonomic neuropathy and dysfunction varies greatly between types II and III. Type III is more severe, not only in sensory manifestations but also to the degree in which the autonomic system is affected.
Hereditary Sensory and Autonomic Neuropathy

Born Painless (HSAN I)

We all experience some form of physical pain in our lifetimes. Pain doesn’t discriminate; it is a universal quality that is easy to recognize. Pain is a powerful learning tool. B.F. Skinner, the father of operant conditioning (instrumental learning), demonstrated how behavior can be modified through positive and negative reinforcement (pain and pleasure). As most parents can attest, this type of learning may display rapid results. An everyday example of this is when a parent buys a child a toy to stop them from crying or whining. Although this may stop the crying/whining, it has the opposite effect on the child. The child learns that if they repeat that negative behavior, they will get what they want. Unfortunately, by rewarding undesired behavior, the habit can be difficult to break.
Recessive Dystrophic Epidermolysis Bullosa

Recessive Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (DEB) is a group of rare inherited diseases that cause skin fragility and blistering. A recent classification includes 3 subtypes: severe generalized recessive DEB (RDEB-sev gen), generalized other recessive DEB (RDEB-O), and dominant DEB (DDEB). DEB occurs because of a type VII collagen defect in the anchoring fibrils in the epidermal-dermal junction (in the lamina densa of the cutaneous basement membrane). Both the recessive and dominant variants stem from a mutation in the type VII collagen gene COL7A1. The recessive variant, RDEB-sev gen, is perhaps the most catastrophic and tragic. There is some literature that indicates an occasional de novo mutation, but generally it is inherited.
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