#harlequin ichthyosis

[omg-erika]

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…

[dramatic-dolphin]

not the person in the notes of that last post going "some syndromes render your life literally unlivable" and then listing two conditions that people are literally living full adult lives with...... ok go tell them their life is unlivable. i don't think they'd agree.

[randomwikiarticles]

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]

[mourningsbane]

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.

[eliteayurveda]

11 Skin Conditions You’ve Almost Certainly Never Heard Of

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.

[alan-diaries]

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

[scoutandvioletfan]

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

[annieandro]

Congenital Tetrahocomelia

Lymphangioma

Epidermodysplasia

Harlequin Ichthyosis

Atypical Progeria Syndrome

Dyslexia

Hearing Impaired/Deaf

[p13rr0t]

I think that Dave is an extremely skinny grimace with scabies and that Henry is just a guy with harlequin ichthyosis

[ebrithilbowser-blog]

Little Miss J, can I come in and play? Cut my skin, make me perfect Paint me red Another dark day can you help me, Miss J? Cut my skin, make me perfect Paint me red

- Avatar - Paint me red

I imagine him being the court jester to my Pharaoh

[dramatic-dolphin]

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.

[restrainedubiquity]

Hello lovelies. If you’re feeling generous please give what you can to this amazing family. Jessica is a single mom putting herself through college while taking care of her baby born with the genetic skin condition, Harlequin Ichthyosis. Baby Addison requires constant care and will for the rest of her life.

Please reboog to spread the word. Thank you.

[mourningsbane]

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.

[chinaichthyosisworld]

A Parent's Guide to Harlequin Ichthyosis

 Harlequin Ichthyosis, sometimes called Harlequin infant syndrome or congenital ichthyosis, is a rare disease affecting the skin. It is a kind of ichthyosis, which refers to a group of diseases that cause continuous dryness and scaly skin of the whole body.

 The skin of newborns with Harlequin Ichthyosis is covered with diamond plates similar to fish scales. On the face, these plates make it difficult to breathe and eat. This is why newborns with Harlequin Ichthyosis need immediate intensive care.

 Harlequin Ichthyosis is a serious disease, but medical advances have greatly improved the prospects of babies at birth.

 symptoms of Harlequin ichthyosis

In newborns

Babies with Harlequin Ichthyosis are usually born prematurely. This means that they may also have a higher risk of other complications.

The first sign people usually notice is that hard, thick scales spread all over the body, including the face. The skin is strained, causing the scales to break and crack.

This hardened skin can cause many serious problems, including:

Eyelid varus

The eyes are not closed

The lips are tightened and the mouth is open, making nursing difficult

Fusion of ear and head

Small swollen hands and feet

Limited arm and leg movement

Nursing difficulties

Tight chest skin causes difficulty breathing

Deep skin crack infection

dehydration

Hypothermia

High sodium in the blood is called hypernatremia

 Among older children and adults

Children with Harlequin Ichthyosis may have delayed physical development. But their psychological development is usually the same as that of other children of the same age.

Children born with Harlequin Ichthyosis may have red scaly skin throughout their lives.

They may also have:

Thinning or thinning of hair due to scales on the scalp

Unusual facial features caused by skin stretching

Hearing loss due to the accumulation of scales in the ears

Tight skin leads to finger movement problems

Thick nail

Recurrent skin infection

Because scales can affect sweating and lead to overheating

 Is there any way to know if I’m a carrier?

If you’re thinking of getting pregnant and are concerned about a family history of ichthyosis, consider working with a genetic counselor. They can discuss the possible need for testing to determine whether either you or your partner are carriers.

 If you’re already pregnant and have concerns, ask your healthcare provider about prenatal testing. They can usually carry out genetic testing with samples of skin, blood, or amniotic fluid.

 How to treat Harlequin Ichthyosis?

With the improvement of neonatal facilities, babies born today are more likely to live longer and healthier.

However, early and intensive treatment is very important.

Preliminary treatment

Newborns with Harlequin Ichthyosis require neonatal intensive care, which may include spending time in a heated incubator with high humidity.

Tube feeding helps prevent malnutrition and dehydration. Special lubrication and protection help keep your eyes healthy.

 Other initial treatments may include:

Use retinoic acid to help remove hard, scaly skin

Use topical antibiotics to prevent infection

Cover the skin with a bandage to prevent infection

Place a tube in the airway to help breathe

Use lubricating eye drops or protective devices on the eyes

 Administration

Harlequin Ichthyosis cannot be cured, so management becomes a key part of the equation after initial treatment. It's all about the skin.

Skin can protect the body from bacteria, viruses and other harmful elements in the environment. It also helps regulate body temperature and fluid loss.

This is why keeping skin clean, moist and soft is so important for children and adults with Harlequin Ichthyosis. Dry, tight skin can rupture and become susceptible to infection.

For maximum benefit, apply ointment and moisturizer immediately after bathing or shower while the skin remains moist.

Look for products rich in moisturizers, such as:α- Hydroxy acid (AHA),ceramide,cholesterol,lanolin,Vaseline

 Some people in the ichthyosis community recommend amlactin, which contains AHA lactic acid. Others recommend adding ozol to any lotion to help keep the skin moist long time. You can find pure glycerin and online in some pharmacies.

 Oral retinoic acid helps to thicken the skin. You should also protect your skin from sunburn and try to avoid extreme temperatures that can irritate your skin.

 Harlequin Ichthyosis is a chronic disease that always requires careful monitoring, skin protection and local treatment.

[sharmaheena850]

Baby girl has to take multiple baths to keep skin from cracking

Jennie Wilklow's daughter Anna has a strange condition. Minutes after she was born via C-section, the newborn's skin began to thicken and crack, creating fissures across her body.

Speaking to People magazine, Wilklow said that out of the womb, her daughter's skin became dry and hard, like armour.

Wilklow remembers the shock among hospital staff as Anna's eyes swelled shut and circulation in her hand and feet were cut off.

It turns out that Anna was born with harlequin ichthyosis, a rare condition that causes newborns to form thick plates of skin, according to the First Skin Foundation.

According to experts, the hardening of the skin can dramatically affect an infant's appearance and cause their lips and eyelids to turn inside out. The condition further creates constriction around their chest and makes it difficult to breathe and eat. Read More

 Business Standard