Use of vitamin A-based drug stops blistering of young girl’s fragile skin
No new blisters seen for over 7 months with alternative treatment, per case report
Written by |
A young girl with genetically confirmed epidermolysis bullosa simplex experienced a marked reduction in skin blistering — with no new sores for several months — with use of isotretinoin, an oral medication derived from vitamin A, according to a new case report.
Its researchers say the child’s case demonstrates the need for personalized treatment of the fragile skin disease: While “there is currently no curative therapy,” alternative strategies can provide hope for patients, per the scientists.
“This case where intermittent oral isotretinoin was associated with a remarkable reduction in blistering, highlights the importance of individualized treatment strategies that can restore not only skin integrity but also hope for these vulnerable children,” the team wrote.
The youngster, whose epidermolysis bullosa simplex was caused by a mutation in the KRT14 gene, saw benefits after starting long-term oral treatment with isotretinoin, a medication often used to treat severe acne, per the report.
Her case was described in “Sustained Clinical Remission of Epidermolysis Bullosa Simplex Due to a Pathogenic KRT14 Variant in a 7-Year-Old Girl,” a report published in the journal JAAD Case Reports.
All types of epidermolysis bullosa, a group of rare disorders, cause the skin to become fragile, tearing easily when touched. In epidermolysis bullosa simplex (EBS), this is due to mutations in the KRT5 or KRT14 genes, which prevent keratin proteins from building strong networks that maintain the structure of the outer layer of the skin.
Symptoms can range from localized to more severe, generalized blistering of the skin. For this child, a first blister developed when she was about 9 months old, shortly after she began standing and putting weight on her feet. At first, the blister was treated in an emergency department and was mistaken for a burn.
First blister for girl, now 7, seen in infancy
In this report, two researchers in Lebanon describe the use of isotretinoin — a medication derived from vitamin A, which helps the skin stay healthy — to treat the girl, now age 7.
Following the first blister in infancy, skin blistering for the child became more frequent over time, the researchers noted. At first, blisters mainly appeared on the soles of her feet and in the diaper area — two regions exposed to pressure, friction, and moisture, which can damage fragile skin. As the child grew, blisters often formed after minor injury and became worse in hot weather and with sweating, the team noted.
Treatment early on focused on draining blisters when they appeared and keeping wounds clean to prevent infection. However, the girl “had trouble walking, particularly during warmer seasons, when blister formation was frequent and severe,” the researchers wrote, noting that “these limitations significantly affected her quality of life.”
The researchers noted that there was no family history of epidermolysis bullosa or similar skin conditions.
To find the cause of the child’s recurring blisters, doctors performed whole exome sequencing, a genetic test that examines the protein-coding regions of genes. It identified a disease-causing mutation called c.1151T>C (p.Leu384Pro) in one copy of the KRT14 gene, which codes for keratin 14, a protein that helps the skin hold together. No other mutations were found in other genes linked to epidermolysis bullosa, per the team.
Together, the findings confirmed generalized intermediate EBS. The family was informed that symptoms sometimes ease during puberty.
Nonetheless, given her young age and because the symptoms were severe, a treatment was started for the first time: oral isotretinoin at 5 mg every five days.
Extended use of vitamin-A based therapy led to girl’s clinical remission
Following use of the vitamin A-based therapy, blistering became less frequent, the researchers noted. In fact, according to the duo, the girl had no new blisters for about four months. Moreover, “extended follow-up totaling approximately 225 days [about 7.5 months] revealed sustained clinical remission, with no new blister formation reported by the patient’s caregiver,” the team reported.
We report the case of a patient with clinically and genetically confirmed epidermolysis bullosa simplex who demonstrated a notable clinical response following treatment with a novel therapeutic approach. … Given the absence of effective disease-modifying therapies, alternative targeted approaches warrant further clinical exploration.
The researcher also noted that “the temporal association between treatment initiation and the marked reduction in blister frequency suggests a therapeutic benefit beyond natural disease progression.”
“We report the case of a patient with clinically and genetically confirmed epidermolysis bullosa simplex who demonstrated a notable clinical response following treatment with a novel therapeutic approach,” the researchers wrote. “Given the absence of effective disease-modifying therapies, alternative targeted approaches warrant further clinical exploration.”
Leave a comment
Fill in the required fields to post. Your email address will not be published.