Professor Yang Xichuan, Original Professor of Xichuan Xiaoliang Dermatology
| Editing/Typesetting: Fanny Editor: kiki&Jeing Audit: Li Yun
Fact is stranger than fiction. There are thousands of diseases in the world, which are particularly strange and rare?
Today, Xiao Liang, a boy♂ who is keen on studying the mysteries of the body, will take you close to science and learn about four bizarre and rare human diseases that may be unknown to 90% people (strange knowledge has increased again).
Please note that there is continuous high energy ahead, and timid students should be careful ~
NO.1 Shuren disease: hands and feet are covered with "branches and roots"
I’m sure you’ve all heard about vegetative state, but have you ever heard of Shuren? What do you think of first? The cute Groot in Marvel Comics’s movies?
(Source: dribbble/Hancooock)
The tree people in the movie can love each other, but in real life, the "tree people" have to suffer from "tree people’s disease".
Shuren’s disease, medically known as "epidermodysplasia verrucosa", is a rare hereditary skin disease caused by human papillomavirus (HPV) infection, which may be related to gene mutation. It usually begins between the ages of 4 and 8, and most often begins before the age of 20.
People with Shuren’s disease usually grow many sarcomas, maculae and papules that look like branches and roots on their hands and feet, which not only affect the appearance, but also make it inconvenient for daily life, and also turn into skin cancer with high winds.
(Indonesian man suffering from Shuren disease)
Unfortunately, there is no unified and effective solution to this disease at present. Some studies think that retinoids can improve it to some extent. In addition, patients should avoid excessive sun exposure, and if they are prone to cancer, they should be operated immediately or removed by other methods.
NO.2 Premature senility: 7-year-old age and 70-year-old appearance
Anti-aging is the pursuit of many people. Who doesn’t want to be younger and more energetic every year? However, in this world, some people actually get old and even die early at a young age because of a rare genetic disease-premature senility.
Art comes from life. It is said that the film "The Curious Case of Benjamin Button" (also known as "Rejuvenation") may be inspired by premature senility, but the time sequence is reversed. The hero of the film looks like an old man of 70 or 80 at birth. As time goes by, the people around him are getting older, but he is rejuvenating, getting younger and younger, and finally returning to the baby form and dying in the arms of an old lover.
(Source: Movie "The Curious Case of Benjamin Button")
If the protagonist’s life is a bizarre movie, then in reality, patients with premature senility live a life like pressing the acceleration button, aging faster than their peers, feeling the rapid failure of every body organ every day, and dying before they bloom.
There are some heartbreaking facts about premature senility:
● Premature senility in adults: Patients usually develop normally before puberty. At the age of 20-30, they begin to have aging characteristics such as skin wrinkles, muscle atrophy, gray hair and shedding, and the average age of death is 47 years old.
● Premature senility in children: The patient is normal at birth, but after birth, the appearance and body organs will accelerate the aging and decline, and with the increase of age, he will suffer from various diseases such as cardiovascular disease, and the average age of death is only 13 years old.
(patients with premature senility)
NO.3 Vampire: You can only live in darkness.
Legend has it that there are zombies in the East and vampires in the West. Speaking of vampires, you may think of the handsome "ghosts" of noble Leng Yan in film and television dramas. In real life, many people are willing to believe that vampires exist in some corner of the world, but in the medical field, "vampires" really may exist, and they are porphyria patients.
You can slide left and right to view the picture, but it is recommended to slide carefully!
Porphyrin (bD lí n) disease is a rare metabolic disease caused by the lack of enzyme activity in heme biosynthesis pathway, which leads to abnormal increase of porphyrin or its precursor concentration and accumulation in tissues, resulting in cell damage. In 2020, experts in the diagnosis and treatment of porphyria agreed to divide porphyria into the following categories:
(Source: Literature [4])
When the medical profession knew nothing about porphyria hundreds of years ago, patients with porphyria were often considered as legendary vampires, which may be because some symptoms of porphyria are very similar to the image of vampires.
photophobia
People suffering from porphyria will be as afraid to be exposed to the sun as vampires, because they will get sick when they see light, and their skin will have photosensitive reaction, blisters, scars, deformities, etc., and in severe cases, they may be accompanied by the loss of fingers, eyelids, nose and ears.
"bloodthirsty"
Unlike vampires who directly suck people’s necks to drink blood, porphyria patients are "bloodthirsty" by blood transfusion to achieve treatment and relief.
Look different from ordinary people
The high level of porphyrin in red blood cells of patients with porphyria can lead to hemolysis, and severe hemolysis often leads to anemia, so it may cause pallor.
However, people with congenital erythropoietic porphyria will show red or brown color in their teeth, bones and urine due to excessive porphyrin, and they will fluoresce when exposed to ultraviolet rays, which really looks a bit like vampires who have just eaten their children.
NO.4 werewolf syndrome: a real hairy child
Everyone has Mao Mao, but people with werewolf syndrome have a lot of Mao Mao.
However, this werewolf is not a werewolf. The so-called werewolf syndrome actually refers to "congenital systemic hirsutism". The patient’s whole body is covered with thick hair, which is beyond the normal physiological range of the same age, gender and race, and seems to be the image of a werewolf in our impression. In addition to excessive hair, it is usually accompanied by facial deformities.
(Source: Literature [6])
The prevalence rate of werewolf syndrome is extremely low, and it was once considered as an "atavism" phenomenon. However, at present, most studies believe that patients suffer from this disease because of unknown genetic defects.
Patients with the above diseases are often noticed by people in their daily lives because of their abnormal appearance, but who doesn’t want to be healthy and safe in life, and who would like to do so if they could start over.
When you meet them in your life, please be less discriminating and misunderstanding, and more understanding and kindness. I also hope that medical technology will be more developed in the future, so that these special patients can get better treatment and return to ordinary people’s lives.
[References]
[1]Agharbi FZ. Epidermodysplasie verruciforme: à propos d’un cas [Epidermodysplasia verruciformis: about a case]. Pan Afr Med J. 2018 May 29; 30:78. French. doi: 10.11604/pamj.2018.30.78.16058. PMID: 30344862; PMCID: PMC6191268.
Yang Hui, Liu Wan, Chang Jianmin. Verrucous epidermal dysplasia [J]. Journal of Clinical Dermatology, 2015:13-14.
Wang Zehua, Li Hongyu, Qu Jing, Zhang Weiqi, Liu Guanghui. Pathogenesis and intervention methods of human premature senility [J]. Progress in biochemistry and biophysics, 2018,45(09):926-934.
[4] Erythrocyte Disease (Anemia) Group, Hematology Branch, Chinese Medical Association. Expert Consensus on Diagnosis and Treatment of Porphyrin Disease in China (2020) [J]. Chinese Medical Journal, 2020,100 (14): 1051-1056.
[5]Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Ital J Pediatr. 2015 Aug 5; 41:55. doi: 10.1186/s13052-015-0161-3. PMID: 26242548; PMCID: PMC4526284.
[6]Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet. 2009 Jun; 84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018. Epub 2009 May 21. PMID: 19463983; PMCID: PMC2694973.
[disclaimer]
The data in this article was updated on May 14th, 2021.
It was originally written by Professor Yang Xichuan, a dermatologist, aiming at popularizing science for readers.
Popular science content can not replace doctors’ diagnosis and treatment opinions, and is for reference only.
If you have skin problems, please consult a doctor in time.
Some pictures are from the Internet. If there is any infringement, please contact to delete them.
Cover image source: blurrr
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