The human body is amazing. Every cell in our body serves its purpose so that all organs function properly to keep us alive and well. Despite its strength, the human body is very fragile, and it is prone to diseases and disorders, some of which are extremely rare and mysterious. One such rare condition is anemia, which refers to the complete or partial absence of fingernails and/or toenails. People with this condition may look as if they are wearing latex gloves.
Anonychia is the partial or complete absence of fingernails and/or toenails. It is a rare abnormality that can be congenital or acquired.
The complete or partial absence of finger and/or toenails is called anonychia. This rare abnormality can be caused by a congenital defect of the epidermis, but it can also be acquired due to other disorders and conditions such as ichthyosis, autoimmune trauma, severe infection, severe allergic contact dermatitis, lichen planus, Raynaud’s phenomenon, severe exfoliating diseases, or epidermolysis bullosa .
Congenital anemia, or the congenital absence of fingernails and toenails involving multiple fingers, is extremely rare. The condition occurs at birth, and people with the condition lose most (if not all) of their fingernails and toenails. In certain cases of congenital anemia, only part of the nail may be missing, and this is called hypophonia.
Even when a nail is missing, the surrounding tissues, as well as the structures that support nail and nail growth, tend to be normal. People with congenital anemia usually do not have any symptoms or other health problems associated with the condition.
The main cause of anonychia congenita is a mutation in the RSPO4 gene.
Congenital Anonychia is caused by mutations in the RSPO4 gene, which provides the instructions for creating a specific protein called R-spondin-4. This protein plays an important role in the Wnt signaling pathway, which includes several steps affecting and defining tissues and cells. Wnt signaling is also important in many cellular activities such as cell division, cell movement or migration, cell adhesion (attachment of one cell to another), and many others.
During the early stages of development, Wnt signaling plays an important role in nail development and growth. R-spondin-4, which is active in the skeleton, contributes to the formation of limbs, specifically the tips of the toes and fingers where nails grow. Mutations in the RSPO4 gene result in the production of a protein that serves no function, which is why R-spondin-4 fails to participate in the Wnt signaling pathway. This causes the nails to develop incorrectly or not at all.
Anonychia congenita, which occurs as a result of RSPO4 gene mutations, is inherited. Understanding patterns of inheritance helps us better understand the condition.
Anonychia congenita, which results from mutations in the RSPO4 gene, is usually inherited in a specific pattern called an “autosomal recessive” pattern. An autosomal recessive pattern occurs when mutations occur in two copies of a gene in each cell. Each parent of a person with an autosomal recessive condition carries one copy of the mutated gene. However, the parents generally do not show any symptoms or signs of the condition.
We usually find no history of autosomal recessive conditions within one family, mainly because when someone is a carrier of one or more of these conditions, they will need to have a child with someone who is also a carrier. Because autosomal recessive conditions tend to be fairly rare, the chances of both partners carrying the same recessive gene are usually low. Moreover, even when both partners are carriers of the infection, there is only a 25% chance that they will pass it on to their child.
Other unusual diseases and disorders you may not have heard of before!
1 Aquagenic urticaria is a rare condition that causes severe sensitivity to water.
Aquagenic urticaria refers to a rare condition in which urticaria (a type of hives) develops rapidly when the skin comes into contact with water. Even snow, rain, tears and sweat can stop this allergic reaction. This type of physical hives is associated with burning and itching. Although there is very little research on this condition, we do know that it is a form of water allergy that mostly affects women. The exact cause of watery urticaria is still unknown.
2 Progressive fibrous osseous dysplasia, also known as “Stoneman’s disease,” is an extremely rare disorder that transforms fibrous connective tissue into bone tissue.
Fibrodysplasia ossificans progressiva (FOP), also known as Stoneman syndrome or Munchmeyer disease, is a rare connective tissue disorder with autosomal dominant inheritance.The disease condition is characterized by abnormal ectopic ossification of the tendons, ligaments, pic.twitter.com/bS2M8BZnPt— MD. Ngoundi (@ivantresor67) October 13, 2021
Progressive fibromuscular dysplasia, an extremely rare connective tissue disease, causes muscle tissue as well as connective tissue such as ligaments and tendons to gradually ossify (turn into bone). This disorder causes bone to form outside the skeleton, which leads to restricted movement.
The disorder usually begins to show symptoms in early childhood, and sufferers with this disorder are affected by the loss of the ability to move. Over time, they may experience breathing difficulties, malnutrition, and a host of other health problems.
People with this disorder cannot undergo any surgical procedure to remove bone growths because it can aggravate the condition and cause more bone to grow.
3 Alice in Wonderland Syndrome, also known as Todd’s Syndrome, causes a distortion of perception.
Alice in Wonderland syndrome is a rare neuropsychiatric disorder that causes episodes of distorted cognition with confusion. Those with this condition may feel younger or older than they really are. They may also find the room they are in or the surrounding furniture to shift, feeling closer or farther than they really are.
These distortions are not the result of hallucinations or eye problems. It is caused by the fact that the affected person’s brain cannot accurately perceive the environment in which they live or what their body looks like.
4 “Porphyria” refers to a group of disorders that cause extreme sensitivity to the sun, red or brown urine, seizures, muscle weakness, or paralysis among many other symptoms.
“Porphyria” refers to a group of liver disorders that cause a buildup of a substance called “porphyrins” in the body, which negatively affects the nervous system or the skin. There are two types of porphyria – acute porphyria and cutaneous porphyria. Acute porphyria mainly affects the nervous system, while cutaneous porphyria affects the skin.
People with acute porphyria may experience symptoms such as breathing problems, urination problems, high blood pressure, muscle pain, anxiety, hallucinations, and paranoia. Common symptoms of cutaneous porphyria are extreme sensitivity to sunlight, blisters on exposed skin, itching, flaking of the skin, and painful redness of the skin.
5 Autobrewery syndrome, also known as “gut fermentation syndrome,” is a condition that causes sufferers to become drunk or intoxicated even without drinking alcohol.
Autobrewery syndrome, sometimes called “diabetes,” is characterized by the fermentation of carbohydrates in the digestive tract. It’s a rare medical condition that causes people to be “drunk” even when they haven’t had a sip of alcohol. This is because this condition converts starchy and sugary foods into alcohol using fungi or bacteria.
The condition is difficult to diagnose, and it is easy to confuse it with various other conditions. There have only been a few reported cases of spontaneous brewery syndrome in the past few decades.