#harlequin ichthyosis
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omg-erika · 3 months ago
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Hyperinflation of the rare
by Dr.Harald Wiesendanger– Klartext What the mainstream media is hiding “Rare”: that sounds like a negligible number. However, at least in the healthcare system, this impression is very misleading. Even if each “rare disease” affects no more than 0.05% of the population, its diversity has exploded recently: there are now over 17,000. And more and more people are affected: four million in…
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dramatic-dolphin · 2 years ago
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full offense but posting photos of newborns/babies with rare, very severe genetic diseases captioned "omg soooo scary body horror, i am scarred for life, click at your own risk" is very much in bad taste. that is literally a human person. be a bit more respectful.
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barbatos-sama · 27 days ago
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political opinion warning but something that rly irks me is when the people who say "you shouldn't get a pet unless you're financially capable of having it" (which is a correct statement) but they're the same people who upon hearing one say "i don't think people in poverty should be having planned babies" they'll say it's eugenics
#like. you want them to be able to pay for pets but not for the children. i don't follow the logic#if you can barely afford to eat you Shouldn't be planning for a baby i don't know why it's a controversial opinion#if You can't eat how are you gonna expect a baby to eat#it's like pre planned child neglect hello#also an opinion i have that seems controversial to some#is like when ppl have a baby even when they know it'll have a painful disorder/disease/whatever#like idk if you've seen those documentaries of ppl with#harlequin ichthyosis. there's one family that rly pisses me off (the parents i mean) bc they had two girls with the disease#and it's INCREDIBLY PAINFUL. like every single activity is painful. your life is just Pain all the time. suffering#most babies die shortly after birth but there's rare cases where they can survive longer#but these parents found out they basically had a 1/4 chance that any baby they had would have this because they both carried the gene#(neither of them actually had the disease just the gene)#and they still had children anyway. Three Of Them. in hopes that they'd have a 'normal' baby. all three ended up with the disease#and it's fucked up bc you can actually even plainly see the father didn't want to have more but the mom insisted#and i'm like. that's just morally fucked up. you people don't have to live with this suffering but your kids do#to even take the risk of having more after the first one is just awful to me. 1/4 is such a high chance#part of the reason those girls live as long as they did (i'm hoping they're still alive) is that they have a daily regimen#of Very Painful Baths that include aggressively scrubbing their already painful skin#and then slathering themselves in lotion/antibiotics/etc#and they need these scrubbings At Least twice a day i can't remember if it was more but i know it was at least two#like that's traumatic these children are traumatized. esp seeing them scrubbing that little baby's skin. i can't even imagine how fucked up#someone's mind gets if they're subjected to constant pain from the time they're born and through their whole life#it's just fucked up i got heated just thinking about it#i will cease my bitching now 🫡
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randomwikiarticles · 9 months ago
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Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth.[4] The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks.[4] These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs.[4] Restricted movement of the chest can lead to breathing difficulties.[4] These plates fall off over several weeks.[3] Other complications can include premature birth, infection, problems with body temperature, and dehydration.[4][5] The condition is the most severe form of ichthyosis (except for syndromes that include ichthyosis, for example, Neu–Laxova syndrome), a group of genetic disorders characterised by scaly skin.[8]
Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene.[4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin.[4] The disorder is autosomal recessive and inherited from parents who are carriers.[4] Diagnosis is often based on appearance at birth and confirmed by genetic testing.[5] Before birth, amniocentesis or ultrasound may support the diagnosis.[5]
There is no cure for the condition.[8] Early in life, constant supportive care is typically required.[3] Treatments may include moisturizing cream, antibiotics, etretinate or retinoids.[3][5] Around half of those affected die within the first few months;[7] however, retinoid treatment can increase chances of survival.[9][8] Children who survive the first year of life often have long-term problems such as red skin, joint contractures and delayed growth.[5] The condition affects around 1 in 300,000 births.[7] It was first documented in a diary entry by Reverend Oliver Hart in America in 1750.[6]
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mourningsbane · 3 months ago
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Wondering if Honeyspring's kits would've still been born with their deadly conditions if Honeyspring hadn't been poisoned. Was it because of the mourningsbane, or was it (more tragically) hereditary?
That's actually a very interesting question!
One of Honeyspring's kits, Smallkit, had cyclopia due to 2-Deoxyjervine exposure! Had Honeyspring not been poisoned, Smallkit would have been premature and riddled with small tumors but could have otherwise survived the procedure with careful treatment.
For Palekit, exposure to Mourningsbane only exacerbated his pre-existing conditions and made surviving with them near impossible. However, LutumClan doesn't remember anything being off with Honeyspring's parents to warrant a cleft palette. Palekit's notable lack of eyes was also considered incredibly strange. Stranger yet, what kind of kit is born with teeth rooted so deep into their gums?
As for Flailkit, who suffered from harlequin ichthyosis, she must've logically gotten it from her parents. It IS odd, however, that Honeyspring's lineage had never shown signs of it before.
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xoxytoxinx · 22 days ago
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I love the words harlequin ichthyosis but the meaning is too freaky for me to say it’s my favorite word
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eliteayurveda · 4 months ago
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11 Skin Conditions You’ve Almost Certainly Never Heard Of
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Millions of people in India suffer from at least one skin condition. You’ve probably heard of the more common ones, such as acne, eczema, and rosacea. In fact, there’s a strong possibility you have one yourself.
There are also a number of uncommon skin problems that you may be unaware of. They can range in severity from minor to fatal. They can have an impact on the quality of life of persons who develop them in some situations.
Continue reading for an overview of some of these lesser-known conditions.
Hidradenitis suppurativa
Hidradenitis suppurativa (HS) is a chronic inflammatory disorder that causes lesions to grow on skin-to-skin contact points on the body. The following are the most prevalent locations for breakouts:
underarms, groin, buttocks, upper thighs, and breasts
Although the etiology of HS is uncertain, hormones are likely to play a role in its development because it often begins around puberty.
The illness affects up to 2% of the population. It is especially common in those who are obese or who smoke. Women are more than three times as likely than men to have HS.
Genetics and the immune system are thought to play a role in who gets the condition.
DID YOU KNOW?
People who have hidradenitis suppurativa are more likely to have specific conditions (or comorbidities), such as:
inflammatory bowel disease (IBD) acne
Acne conglobata, dissecting cellulitis of the scalp, and pilonidal sinus disease are all part of the follicular occlusion tetrad (a collection of inflammatory skin disorders).
metabolic disorder
PCOS (polycystic ovarian syndrome)
Type 2 diabetes with squamous cell carcinoma of the afflicted skin
The first signs of HS are outbreaks that resemble pimples or boils. These outbreaks could remain on the skin or fade and recur.
If neglected, more severe symptoms like scarring, infection, and breakouts that rupture and produce a foul-smelling fluid might develop.
There is presently no cure for HS, however there are several therapy options to assist control symptoms. These are some examples:
topical ointments, anti-inflammatory medications, injectable biologics, and hormone therapy
In more severe situations, surgery may be recommended.
Psoriasis inversa
Intertriginous psoriasis is another name for inverse psoriasis. This illness, like HS, causes red sores on regions of the body where skin touches skin. These lesions do not resemble boils. They appear smooth and gleaming.
Many persons who have inverse psoriasis have at least one other type of psoriasis on their body. Experts aren’t clear what causes psoriasis, but genetics and the immune system both play a role.
Psoriasis affects roughly 3% of the world’s population, and 3–7% of those with psoriasis have inverse psoriasis.
Because the skin in high-friction parts of the body is sensitive, treating the condition can be challenging. Steroid creams and topical ointments can be beneficial, but they can also cause unpleasant irritation if used excessively.
People with more severe inverse psoriasis may also require UVB light therapy or injectable biologics to manage their illness.
Harlequin ichthyosis
Harlequin ichthyosis is an uncommon genetic condition that causes children to be born with rough, thick skin covered in diamond-shaped scales.
These plates, which are separated by deep fissures, can shape their eyelids, mouth, nose, and ears. They can also impede limb and chest movement.
Around 200 instances have been recorded around the world. The disorder is caused by a mutation in the ABCA12 gene, which permits the body to produce a protein required for normal skin cell formation.
The mutation hinders lipid transfer to the skin’s top layer, resulting in the scale-like plates. Because of the plates, it is more difficult to:
control water loss
combat illness by regulating body temperature
Harlequin ichthyosis is an autosomal recessive condition caused by faulty genes inherited from both parents.
Because biological carriers rarely show symptoms, genetic testing can detect changes in genes and calculate your risk of developing or passing on genetic illnesses.
A stringent regimen of skin-softening emollients and skin-repairing moisturizers is the most popular treatment for harlequin ichthyosis. Oral retinoids may also be utilized in extreme situations.
Morgellons syndrome
Morgellons disease is an uncommon ailment that causes microscopic fibers and particles to emerge from skin wounds, giving the impression that something is crawling on the skin.
The Morgellons Disease is poorly understood, although it affects nearly 14,000 families, according to the Morgellons Research Foundation.
Morgellons disease is most common in middle-aged Caucasian women. It’s also closely linked to Lyme disease.
Because the symptoms are similar to those of a mental health illness known as delusional infestation, some experts assume it is a psychological issue.
The symptoms are unpleasant but not life-threatening. Typical symptoms include:
weariness anxiety sadness itchy skin rashes or sores black fibrous substance in and on the skin
Lesions only affect one part of the body: the head, trunk, or extremities.
There is no standard treatment option for Morgellons disease because it is still poorly understood.
People suffering with the disease are usually encouraged to maintain close contact with their healthcare team and seek therapy for symptoms such as anxiety and depression.
Elastoderma
Elastoderma is an uncommon disorder characterized by increased skin looseness in particular parts of the body. As a result, the skin sags or hangs down in loose folds.
It can affect any region of the body, but the neck and extremities, particularly the elbows and knees, are the most usually afflicted.
The illness affects less than one in one million persons worldwide. Elastoderma’s actual cause is unknown. It is assumed to be caused by an excess of elastin, a protein that provides structural support to organs and tissues.
Elastoderma has no cure or recommended treatment. Some people will have surgery to remove the problematic area, although the loose skin often returns after the procedure.
Pilonidal sinusitis
Pilonidal sinus illness causes small holes or tunnels at the buttocks’ base or crease. Because symptoms aren’t always clear, most people don’t seek therapy or even recognize the issue until it causes problems.
It is caused when the hair between the buttocks rubs together. The friction and pressure that results pushes the hair inside, causing it to become ingrown.
This minor illness affects 10 to 26 people in every 100,000. The majority of people with this illness are between the ages of 15 and 30, and men are twice as likely as women to have it.
It frequently affects persons who work occupations that demand long periods of sitting. It is often associated with hidradenitis suppurativa (HS).
A few things influence treatment for an infected pilonidal sinus:
signs and symptoms
the size of the abscess, if it is a new or recurring infection
In most cases, treatment entails removing any visible pus from the affected pilonidal sinus. Antibiotics, hot compresses, and topical ointments are also frequently utilized.
If you’re one of the 40% of people with the illness who has reoccurring abscesses, talk to your doctor about other surgical alternatives.
Pemphigus vegetans
Pemphigus is classified as an autoimmune illness by the National Institutes of Health (NIH)Trusted Source. It causes your immune system to target healthy epidermal cells. The epidermis is the top layer of the skin.
Lesions or blisters form where skin naturally meets or rubs together, as in HS. They can also be found in or on the:
mouth, throat, eyes, nose, and genital areas
Pemphigus vulgaris is the most common kind of pemphigus. It affects 0.1 to 2.7 persons in every 100,000.
Pemphigus vegetans, a pemphigus vulgaris variation, accounts for 1 to 2% of pemphigus cases globally.
If untreated, Pemphigus vegetans can be lethal. The treatment focuses on removing the lesions or blisters and preventing them from recurring.
Corticosteroids and other anti-inflammatory steroids are frequently used as the first line of defense. In addition, you can have surgery to remove the lesions or blisters, while also cleaning and dressing the affected area on a daily basis.
Medicated mouthwash or clobetasol, a corticosteroid and ointment used to treat oral problems, are examples of mouth and throat remedies.
Crohn’s disease 
Crohn’s disease is an inflammatory bowel disease (IBD) of the digestive tract.
It affects around 780,000 Indians. Every year, approximately 38,000 new cases are reported. Researchers believe that genetics, the immune system, and the environment all have a role in Crohn’s disease development.
Between 20 and 33 percent of persons with Crohn’s disease have skin lesions as a result of the condition. This is referred to as a cutaneous epidemic.
Cutaneous lesions, which resemble genital warts, appear after bowel disease has shown on the skin or another organ outside of the intestinal tract. The eyes, liver, and gallbladder are all included. It might also have an impact on the joints.
If your Crohn’s disease and lesions have metastasized, or spread, they can become painful and potentially lethal. There are currently few therapy options for this stage.
Sneddon-Wilkinson syndrome
Sneddon-Wilkinson illness is characterized by clusters of pus sores on the skin. Subcorneal pustular dermatosis (SPD) is another name for it.
Experts are unsure what is causing it. The disease, which is uncommon and sometimes misunderstood, primarily affects persons over the age of 40, particularly women. As a result, its precise prevalence is uncertain.
Soft, pus-filled pimples occur between skin that rubs together a lot, just like in HS. Skin lesions appear on the body, between skin folds, and in the vaginal area. They “explode” as a result of friction.
This popping of the lesions may be accompanied by an itchy or burning feeling. These feelings are followed by scaling and discolouration of the skin. Despite being chronic and painful, this skin ailment is not lethal.
The antibiotic dapsone is the preferred treatment for this condition, with a daily dose of 50 to 200 milligrams (mg) taken orally.
Lichen planus 
Inverse lichen planus pigmentosus is an inflammatory disorder that causes skin fold discolouration and uncomfortable pimples.
Only about 20 cases have been documented worldwide, mostly affecting Asians. Nobody knows what is causing it.
Small clusters of flat lesions, or macules, of discolored skin appear. They don’t normally contain pus, but they do occasionally. Some people’s skin spontaneously clears up with time, whilst others may experience symptoms for years.
This is a mild condition that can be addressed with a topical treatment. Corticosteroids are the most often used treatments for wound healing and can even aid with pigmentation in some situations.
Dowling-Degos syndrome
Dowling-Degos disease is a hereditary illness that causes darker skin, especially in folds such as the armpit, groin, and joint areas.
Pigment changes can also affect the neck, hands, cheeks, and scalp, albeit they are less prevalent.
The majority of the lesions are minor and resemble blackheads, however red areas resembling acne might form around the lips.
Lesions on the scalp might also look as fluid-filled lumps. Itching and burning sensations are possible.
Skin changes, like HS, occur in late childhood or early adolescence.
However, some people do not have breakouts until they reach maturity. Dowling-Degos is not a life-threatening disease, but it can cause distress and worry in those who have it.
This disease presently has no cure. Treatments ranging from laser therapy to topical steroids to retinoids have been tried, but results have been mixed, and nothing has proven to be consistently successful.
Takeaway
If you have a skin issue, pay attention to your body and treat any signs seriously.
Consult your doctor who can assist you in obtaining a diagnosis and determining the best treatment options for your specific problems.
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fyrefrostanimus · 4 months ago
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I have this one OC based in a medieval setting where they have harlequin ichthyosis and they got adopted by a dragon after everyone thought they were a demon or changeling or something, but they also didn't like the dragon deciding to be their parent so they claimed the dragon kidnapped a child
As soon as the knight showed up and told the dragon to fight him so he can bring the child back, the dragon just turned around holding the child and said "I adopted them because you didn't care in the first place, and now you're blaming me for showing mercy?"
To be honest the only reason I haven't drawn these guys yet is that I fear what I will see searching up references for harlequin ichthyosis
“Dude, your girlfriend’s an alien!” “No, it’s just a skin condition.”
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alan-diaries · 2 months ago
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It's hilarious that you're cherry-picking asks and deleting replies to seem witty and cool, only to end up looking like every south park reddit dipshit who ever lived
Dead harlequin ichthyosis babies in my pussy
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scoutandvioletfan · 7 months ago
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Primordial Dwarfism
Sacral Agenesis
Lesch-Nyhan Syndrome
Congenital Central Hypoventilation
Xeroderma Pigmentosum
Ichthyosis
Bosma Arhinia Microphthalmia Syndrome
Holt Oram
Osteogenesis Imperfecta
Fibular Hemimelia
Cerebral Palsy
ADHD
Autism
PTSD
Tourette Syndrome
Ehlers Danlos Syndrome
Pulmonary Hypertension
Spinal Muscular Atrophy With Respiratory Distress
Gastroparesis
Body Integrity Identity Disorder
Epidermolysis Bullosa
Thanatophoric Dysplasia
Metatropic Dysplasia
Prune Belly Syndrome
Maffucci SyndromeHennekam Syndrome
Prader-Willi Syndrome
Congenital Limb Deficiency
Muscular Dystrophy
Hallermann-Streiff Syndrome
Mast Cell Activation Syndrome
Fibrodysplasia Ossificans Progressiva
Trimethylaminuria/Fish Oudor Syndrome
Idiopathic Premature Autonomic Neuropathy
Progeria
Escobar SyndromeIdiopathic
Multicentric Osteolysis Pentalogy Of Cantrell NarcolepsyIsla
Kilpatrick-Screaton
Lymphatic Malformation
Albinism
Harlequin Ichthyosis
Bilateral Anophthalmia
Neurocutaneous Melanosis
Proximal Femoral Focal Disorder
Saddan Dysplasia
Pierre-Robin Syndrome
Down Syndrome Proximal Femoral Focal Deficiency
Lissencephaly Hypertrichosis/Werewolf Syndrome
Motor Neuron Disease
Erythromelalgia
Sturge Weber Syndrome
Arthrogryposis
Obsessive Compulsive Disorder
Mandibulofacial DysplasiaIncontinentia Pigmenti
Microcephalic Osteodysplastic Primordial Dwarfism
Centronuclear Myopathy
Persistent Genital Arousal Disorder Narcolepsy
Dwarfism Cystic Hygroma
Neurofibromatosis
Klippel Trenaunay Syndrome
Congenital Heart Defect
Arteriovenous Malformation Sotos Syndrome
Entity Syndrome Vitiligo Cloves Syndrome
Arteriovenous Malformation Moebius Syndrome
Goldenhar Syndrome
AlopeciaIdiopathic Pulmonary Arterial
Hypertension
Dermatillomania
Hypertrichosis
Cystic Hygroma
Filariasis Barber-Say Syndrome
Tar Syndrome Fibrodysplasia Psoriasis
Mayer-Rokitansky-Küster-Hauser Syndrome
Functional Neurological Disorder
Lymphedema Neurocutaneous
Lioedema/LipedemaArthrogryposis Multiplex CongeniaMarfan Syndrome
PiebaldismMorquio Syndrome
Congenital Tetrahocomelia Lymphangioma Epidermodysplasia
Harlequin Ichthyosis
Atypical Progeria Syndrome
Dyslexia
Hearing Impaired/Deaf
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aorish · 2 years ago
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Most people who work a full-time job really like to take pride in their work, even if they work for some evil corporation burning forests of denying war crimes or whatnot. Helps you stay sane in the madness.
I'm struggling to understand how anyone who worked on this harlequin ichthyosis of a project could possibly have taken any pride or joy in their work. I can't even decide what's funnier, the idea that they somehow managed to delude themselves into thinking they had put out something other people would like, or that they all fully understood the magnitude of their crimes, going to work every day with this dead-eyed, floundering abortion staring back at them to remind them exactly what they had bartered their dignity and shame in exchange for.
cannot truly describe the feeling that just came over me upon seeing this but the best estimation is a simultaneous need to laugh hysterically and also fucking die
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annieandro · 1 year ago
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Congenital Tetrahocomelia
Lymphangioma
Epidermodysplasia
Harlequin Ichthyosis
Atypical Progeria Syndrome
Dyslexia
Hearing Impaired/Deaf
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mourningsbane · 4 months ago
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How did each kit die? They all passed away at different times so I feel like each one of them died due to different things. [Sorry if you've already covered this!! Ty if you do entertain my ask :3]
Worry not! I love entertaining asks! <3
Smallkit had cyclopia, and thus no higher brain function. She could do things like swallow and cry, but that was about it! She died within the hour from breathing complications.
Palekit had a severely cleft palate, and, oddly enough, didn't have eyes! He couldn't suckle at all, and a portion of his face was segmented and exposed. He died after twelve hours due to an infection spiraling into sepsis.
Flailkit had harlequin ichthyosis and was in a lot of pain, hence the constant wailing. It was a miracle she survived as long as she did but had a difficult time moving and breathing due to her plated, leathery skin. Flaildrizzle kept her under constant attention despite Tanglefern advising her that Flailkit would likely not survive. She died after twenty-eight hours after Rootstar came in when Flaildrizzle was briefly absent, and gently broke her neck.
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diaryofasugarfiend · 1 year ago
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Harlequin ichthyosis.
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Outsider art, cursed object or why not both?
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amri-hospital · 2 years ago
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p13rr0t · 2 years ago
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I think that Dave is an extremely skinny grimace with scabies and that Henry is just a guy with harlequin ichthyosis
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