Ichthyosis: Many Stories

By Julia Michaels⁺

What is the skin, our largest organ? What is its role in human existence?

It protects against microorganisms, chemicals and physical trauma. It regulates the body’s internal temperature by sweating and regulating blood flow. It produces oil to keep itself soft; through sweating, it expels waste. It provides the sensations of touch, pressure, external temperature and pain. It provides color, with melanin, and houses our hair follicles.

My granddaughter was born five years ago and because of a genetic mutation, she arrived with skin that does not fulfill its normal design function. In layman’s terms, her skin grows too fast. She cannot naturally shed the dead skin that is replaced by new skin, as other people do. My granddaughter deals with vision, hearing, scalp and movement challenges. Her skin -- thin, reddish and stretched in some places -- is the result of a very rare genetic difference called ichthyosis, which exists in 22 forms identified so far.

Ichthyosis, a strange word, comes from the Greek, ichthys, or fish. It refers to the skin of the affected person, which is dry, scaly and sometimes accumulated in layers.

It’s unknown how many people in the world have this mutation, but in the United States the incidence of ichthyosis is estimated at only 5 to 10 babies per 100,000 born.

Friends of mine ask how my grandchildren are doing from time to time. It is not uncommon for someone to ask if my granddaughter has “gotten better”.

I learned from a DNA test that I’m the carrier of the gene on our side, which I passed on to my daughter. By a rare coincidence, my son-in-law also has a form of the gene. We have no news of anyone else carrying ichthyosis in either family.

My granddaughter and her twin were born prematurely in New York in early 2019, because she was under stress in the womb, encapsulated in suffocating layers of hardened skin.

I flew to be there on the second day of the babies' lives. I spent almost the entire time with the little family during their three-month stay in the ICU. I went back again when my daughter returned to work at the end of her maternity leave, and ended up sharing in the shock of a second hospitalization, this time with the dangerous respiratory syncytial virus.

During the pandemic, I left Brazil to live in the little family's building. I was with them every day and changed many diapers. In 2022, I drove the minivan when they moved to the outskirts of Washington, DC, and since then, I have returned to their new home many times.

I witnessed the babies’ first steps and words, and I continue to witness their challenges and victories with the joy germinated in the first scary days of their lives. None of this compares, however, to the three days I just spent with the family in June 2024, at a conference in Albuquerque, New Mexico.

"I bring a hand brush and dustpan when I go to work with other people, to pick up the skin that falls off." – Adult conference attendee.

"I apply Aquaphor (moisturizer) in the morning after my long shower and wear tight-fitting clothes to hold my skin on until nighttime, when I take my second long shower of the day and can peel off the skin that has accumulated during the day." -- Adult conference attendee

"When it was time for me to go to college, I asked about a room with a bathtub at every school I was looking at." – Adult conference attendee.

My daughter and son-in-law, along with my granddaughter’s twin brother, already had my admiration for their daily efforts to care for her and ensure that she’s happy and lives up to her potential. Hearing these testimonials at the conference took that feeling right to my gut. For the first time in five years, I understood that there’s no respite, the fight is never-ending. Sometimes, a simple breath in or out is tough.

“My fellow flakes,” began a Canadian keynote speaker, an actor and comedian in his early 50s. “Yesterday was the first time in my life that I met another person with ichthyosis.” Holding back tears, he said he had done some research to find out if there were any other actors in the world who have this rare genetic trait. He discovered a circus performer active from the 1930s to the 1960s, Alligator Boy, who ended up marrying a bearded woman, Monkey Girl, and the two, surprisingly, lived happily ever after in Florida.

After doing his research, the speaker remembered that when he was a child in Canada, a friend had shown him a picture of Alligator Boy in a book. The friend asked if he had been upset when he saw the picture. No, he replied. I was devastated, he confessed to the audience at the conference.

The comedian and all of us were in tears several times during his presentation. He says he is writing an autobiographical play, something new for him. Another participant told us about the film that he’s making, Miss Matched, on what it’s like to date, having ichthyosis. Dealing with flakes...

Bullying, yes, many attendees spoke of it. Decades after the Alligator Boy photo shattered a child with different genetics, there is now a new focus on minority inclusion. Parents tend to teach their children to stop staring, to be kind and to make friends. Bullying, however, remains a concern for all of us.

My daughter and son-in-law dress my granddaughter in colorful clothes, fancy hairstyles, ribbons in her hair. She loves this, loves rainbows. Full of life, affectionate, super smart and creative, she is a strong presence wherever she goes.

The national conference, organized every two years by the Foundation for Ichthyosis and Related Skin Types (FIRST), brings together adults and families, researchers, doctors and pharmaceutical companies. My daughter and her family had already participated once, in 2022. They later told me how good it was to see other children with ichthyosis, to listen to adults, to socialize.

FIRST does everything it can to promote research into ichthyosis. There is a prospect of gene therapy, which, from what I understand, would normalize skin growth and treat the mutation. However, I do not imagine that the features – congenital and similar in everyone who has the type of ichthyosis that my granddaughter has – will change from a mask-like appearance, with the eyes stretched out. I don’t know if plastic surgery will be an option in the future, on ears and other affected parts of the body. Nowadays, some people with ichthyosis undergo eye surgery, mostly for functional reasons.

Nothing that my daughter and son-in-law told me about the conference two years ago could replace the experience of having been there with them. I saw and felt the context, past, present and future. In Albuquerque, everyone was already or became instant childhood friends. The comedian wasn't the only person to meet someone there for the first time who had been through so much in common. There were people from different ethnicities and skin tones. Genetics brought us together.

One of the conference organizers told me that he had tried to change the name, ichthyosis, strange and difficult (except perhaps in Greek), without success.

When you look for information about what skin does, there is one that doesn't appear on Google or ChatGpt: appearance.

I am a person with common pale skin. Coincidence or not, I work on issues of race and the African Diaspora, in my startup for a digital platform, FullCircle. I am constantly touched by the experiences of dark-skinned people in countries such as Brazil and the United States.
Early this past July, police stopped and searched a trio of young people on a sidewalk in Ipanema, where I live. This happened because of their skin tone — police behavior defended by the state governor, after the fact.

Before traveling to the conference, I read Jefferson Tenório's excellent novel, The Other Side of the Skin, winner of the Jabuti Prize. It deals with racial prejudice experiences and was banned in four Brazilian states. On my return from the US, I read Michel Laub's disturbing A Walk with the Giant, about a fictional Jewish man in São Paulo who raises funds for a far-right candidate in 2018, loses his wife to Covid and must take care of the couple's daughter, a child with special needs, alone. (The Brazilian far-right president at the time delayed vaccine purchases, laughed at patients and would not mask. More than 700,00 Brazilians have died of Covid.)

Everything urges reflection.

Only through a well-told story – a painting, a short story, a film, a media report – can we reach the threshold of someone else's skin, feel the realities of others, weep and rejoice beyond ourselves. That is why I’m writing to you here, daunted by my mission’s difficulty. I want you to feel what the conference experience was like for this grandmother.
A police officer cannot get into the skin of the person he approaches. Training will never be fully successful in reversing prejudices, attitudes, experiences. The most likely scenario is that the armed man warns the person being approached, as one of them did in Ipanema, about the danger of walking down the street having dark skin.

Hands up, guns to their heads, the young people had no way to tell their stories. A pale-skinned friend who was there with them, excluded from the threat, said these were the children of foreign diplomats. The guns were lowered.

Yes, everyone needs to tell stories, sometimes in place of those who don't tell them.
My granddaughter is a great storyteller, at age five. She likes to join disparate elements, like a window, fire and a chicken. The endings shake up her listeners. She has chances to be heard. I hope she gets ever more opportunities to tell stories, and I think that, if it’s up to her strong personality, she’ll do everything she can to make it happen (She doesn't tolerate interruptions!).

Storytelling is something I saw a lot of in Albuquerque. The conference was like a village bonfire, flames coming together, shining, sparking emotions and hugs. The flakes went everywhere.

Neither my granddaughter nor the other participants in the conference, nor boys approached on the street nor anyone needs to be tied to a single story, to eternal repetition. It would be too boring. And let's remember: everyone is different and has stories.
The thing is to tell, to listen: to jump out of oneself, to emerge from the surface of being, to bring the other closer, to look for essences. These are magical and ephemeral moments that make us more whole.

Grandma, can I snoop through your pocketbook? My granddaughter asked on our last night together in New Mexico. A story was coming on.

⁺An American living in Brazil since 1981, Julia Michaels is a journalist, writer and co-founder of FullCircle.  In 2020, she published the book Rio de Janeiro, how did we get here? by Editora Raíz.

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Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officals endorse any treatments listed here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.