Kuhlekonke Phenyane from Vryheid in northern KwaZulu-Natal was born with lamellar ichthyosis (LI), a rare skin condition that causes the build-up of scales all over the body.

The nine-year-old has never attended school because her parents were scared that their daughter would be bullied. Because of her condition, she suffers constant itching and flaking skin.

“My daughter is struggling, she cannot be around other people. We don’t know what to do anymore because we have tried every type of ointment, and traditional medicines but nothing seemed to work,” says Hlengiwe Ngobese, Phenyane’s mother. 

She tells Health-e News that she would like to see her daughter go to school and live a normal life like other children. 

“What saddens me the most is that even if she is walking with me at the mall or in the community, you can see that people are not comfortable being around us; some of them keep staring.”

Furthermore, she wants to find work so that she can provide for Phenyane. 

“I am unemployed and am only surviving with her social grant, I struggle a lot. I wish people could help me because I need help. Even if I am with her we always face different challenges like people gazing at her and showing signs of discrimination.”

Phenyane, who is a bubbly child, always scratches her body. Her mother says it is even worse when it is hot.

Ngobese explains that she has been in and out of various hospitals ever since she noticed Phenyane’s skin condition, but nothing has worked. She has gone to Inkosi Albert Luthuli Central Hospital in Durban, Greys Hospital in Pietermaritzburg, and Madadeni Hospital in Newcastle where she was diagnosed with LI.

“We were told that this condition affects one in 600,000 people. I sometimes wonder ‘Why me Lord, what have I done?’” the mother says. 

Genetic disorder 

Dermatologist Dr Suretha Kannenberg explains to Health-e the causes of this skin condition.

“This is a rare, genetic skin disorder characterised by the presence of large, dark scales over the entire body. It is present from birth and is one of the most severe forms of ichthyosis. 

The skin cells in individuals with LI do not shed normally, leading to the build-up of thick, plate-like scales.

“Mutations in this gene disrupt normal skin cell shedding, resulting in the characteristic scales,” she says.

Disrupting every-day life 

Ngobese shares that her daughter’s skin condition worries her because the scales “drop like snow”, and she is constantly sweeping them up.

“I can’t even visit neighbours and relatives with her because of her skin condition. People believe that if they let their children play with my daughter they might get infected. That is why whenever she is playing with other children you can see that they are distancing themselves from her. I think they were told by their parents to do that.” 

She says she can’t bear to see her child suffer like this.

“My child has been through a lot,” adds Ngobese.

Kannenberg says the severity of pain and discomfort can vary among individuals with LI. The condition can be physically uncomfortable, leading to tight, painful skin, especially around joints, which can restrict movement. The dry and scaly skin can also lead to itching and increased susceptibility to skin infections.

“LI is not transmittable through contact, sexual activity, sleeping, bathing, kissing, or other forms of casual interaction. It is solely a genetic disorder. It is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations,” she explains. 

“Each parent of an individual with an autosomal recessive condition carries one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.”

No cure for the condition

Kannenberg says there’s currently no cure for Lamellar Ichthyosis. However, treatments can help manage the symptoms. 

“These treatments may include moisturising creams and ointments, keratolytic agents to help remove scales, and retinoids to promote normal skin cell shedding.” – Health-e News