We have explored many common conditions such as cardiovascular disease or asthma, but for this post we wanted to delve into some of the lesser known and more mysterious conditions that exist. Awareness promotes understanding and acceptance over ignorance, which is key for rare disorders that are often misunderstood by others. In Part 1 we looked at elephantiasis, musicogenic epilepsy, bibrodysplasia ossificans progressiva and Brain-Eating Amoeba, now for the last 3 on our list:

1. Trimethylaminuria  

   Also know as fish odor syndrome, it is a rare genetic metabolic condition whereby nitrogen-containing compounds (like the fishy-smelling trimethylamine) aren’t able to be properly broken down by the body. Because of this, trimethylamine builds up in the system and causes a highly unpleasant, strong fishy odor to emit from the person’s sweat, urine and breath. This strong odor is the only medical consequence of the disorder, otherwise the person is likely strong and healthy. It can be an extremely embarrassing and unpleasant condition, often causing interpersonal problems and self esteem issues. There is no cure for the disorder, but there are certain steps a person can take to modify or lessen the smell such as avoiding certain foods, using certain soaps and taking specific medications or supplements the doctor may prescribe.

2. Epidermodysplasia Verruciformis (EV)  

   EV is an uncommon genetic autosomal recessive skin disease that causes large wart-like growths on patches, or all over the body that display the appearance and texture of tree bark. The warts usually appear at some point during childhood. These warts are a product of an abnormal reaction to specific strain of human papilloma virus (HPV). As with certain other types of HPV, this type can lead to the warts becoming cancerous, usually later in life. Unfortunately, EV is a lifelong disease and there is no cure currently available.

3. Klippel-Trenaunay Syndrome

   KT syndrome is a disorder that causes abnormal soft tissue and bone growth, dark red blotches (called port-wine stains) on the skin, as well as twisted varicose veins. Bone overgrowth causes one limb to be larger and more cumbersome and painful than the others which can lead to mobility impairment. This condition can largely alter the appearance as well as cause other more serious complications such as internal bleeding or lymphedema.

Of course these are only a few of the hundreds of rare and misunderstood conditions, but they may help shed light on some of the unique and rare limitations placed upon some people. Thanks for visiting DocChat! If you have any medical questions, our qualified, board certified DocChat physicians are around 24/7/365.