Harlequin Ichthyosis: Rare Condition Causes Five-Year-Old's Skin To At Grow Ten Times The Normal Rate | HuffPost Life

'I want Evan to be somebody that people can look up to.'

Barcroft

A five-year-old boy has a condition that causes his skin to grow at ten times the normal rate, leaving him at risk of a life-threatening infection.

Evan Fasciano, from Connecticut, was born with Harlequin Ichthyosis, a genetic disorder, which causes babies to be born with very hard, thick skin covering most of their bodies.

Evan has to have two baths a day so his mum, De De Fasciano, 33, can scrub off the excess skin.

"We’re very strict with Evan’s skin management, so we try to keep him scale-free, and because of that his scales tend to be very thin so they’re easier to get off," Mrs Fasciano said.

"If we didn’t bathe him twice a day then the scales would get much thicker, much faster and it would be harder to get off."

Steven Schloss / Barcroft Images

Evan Fasciano

Delivered nine weeks early by emergency caesarean, Evan wasn't able to leave hospital for a couple of months because of the severity of his condition.

Mrs Fasciano and her husband Joe Fasciano first learned of Evan’s diagnosis just two days before he was born.

"When Evan was first born he didn’t look like a baby you would picture," she said.

"Obviously, his skin was very thick and he didn’t actually open his eyes for the first couple of weeks.

"He spent two months in newborn ICU.”

Doctors warned the parents that currently there is no cure for Harlequin Ichthyosis and many babies born with the condition don’t survive.

Mr Fasciano added: "We both knew he was going to be a strong little guy and that he would make it through anything."

Steven Schloss / Barcroft Images

Evan Fasciano and his mum De De

Every day after bath time, Mr and Mrs Fasciano cover Evan in two kinds of cream to moisturise and protect his skin from getting too dry.

"He needs to be coated with a moisturising treatment to keep his skin moist and protect it from cracking or ripping," she said. "He’s usually very giggly and happy when he gets Aquaphor [a cream for dry, cracked skin]."

Evan's skin’s fast growth rate means his body burns calories at a much quicker rate than normal.

Because his skin dries out so quickly, Evan is also constantly at risk of dehydration, suffering from seizures and sunstroke.

"Overheating is a very scary health complication," Mrs Fasciano said. "He can’t sweat so he can overheat very easily.

“We’re constantly pushing fluids and food as much as we can just to keep him up on the calorie intake.”

The skin around Evan's eyes is so tight, it can be difficult to close his eyes without careful attention.

"He rarely complains about anything," added his mum. "I don’t know if I could say the same if I was in his position.”

Evan also has issues with his motor skills, meaning he has to be strapped into a special walking frame to move around.

His younger brother, 19-month-old Cenzo, doesn’t suffer from the same condition and recently learned to walk.

"When his little brother started walking he said ‘good job’," Mrs Fasciano said.

"He was very proud of him and never seemed to be jealous.”

Steven Schloss / Barcroft Images

Evan Fasciano and his younger brother Cenzo

Mrs Faciano describes Evan as a "lively, happy child", who is "incredibly popular" at school.

The mum has gone into Evan’s class to teach the other children about his condition and Evan is always at the front of the class to help her out.

"He is pretty much known as the rock star in his school," Mrs Fasciano said.

"Everybody waves to him. He doesn’t put his hand down when he is walking in the hallway because he just has to wave and say hello to everybody, so we’ve been very fortunate.”

Mr Fasciano said Evan is sometimes the subject of hurtful looks and comments from strangers in public.

"Sure people stare at Evan," he explained.

"People that don’t know him will do a double take so we’re encouraging him to make sure that he says hello to everyone who does.

"There have been incidents when people have made bad comments and you do your best to stay positive.

“I want Evan to be somebody that people can look up to; somebody that they can say: ‘Wow he’s got a lot of challenges, his appearance isn’t the same but he can teach people a lot of things'.”

For more information on Harlequin Ichthyosis and other severe skin conditions, visit www.firstskinfoundation.org.

21 Rare Diseases

Stiff Person Syndrome(01 of20)

People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. According to the National Organization of Rare Diseases, spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.

Gigantism(02 of20)

This disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Pica(03 of20)

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

Maple Syrup Urine Disease(04 of20)

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.

Situs Inversus(05 of20)

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Trigger Thumb(06 of20)

Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Scurvy(07 of20)

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints. (credit:Getty )

Wilson's Disease(08 of20)

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Foreign Accent Syndrome(09 of20)

According to researchers at the University of Texas at Dallas, this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. Documented accent shifts include from American English to British and from British to French.

Carcinoid Syndrome(10 of20)

According to the National Organization of Rare Diseases, about 10 percent of people with carcinoid tumors -- which the Mayo Clinic says are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.

Cyclic Vomiting Syndrome(11 of20)

Children and adults afflicted with CVS experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.

Peeling Skin Syndrome(12 of20)

This obscure, genetic skin disorder does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, a mutation in the TGM5 gene has been identified in many sufferers.

Platelet Storage Pool Deficiency(13 of20)

This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. According to the NIH, the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete ADP in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·

ACDC(14 of20)

Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the New England Journal of Medicine. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. According to the NIH, the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3

Conversion Disorder(15 of20)

This condition, which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·

Ochronosis(16 of20)

Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though scientists aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.

VLCAD Deficiency(17 of20)

This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. According to the NIH, the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.

Hairy Tongue(18 of20)

As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. According to the Mayo Clinic, the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. The NIH reports that hairy Tongue can also present as brown, yellow, or green discoloration. ·

Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression(19 of20)

This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. The disorder also includes an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. Though treatment does exist in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.

Progeria(20 of20)

According to the Mayo Clinic, only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. According to the Mayo Clinic, progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.

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