Rare JEB case sees man survive into 80s despite long cancer history
Report links his urethral cancer to chronic scarring that marks genetic condition
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An 81-year-old man with junctional epidermolysis bullosa (JEB) has lived with recurrent blistering since childhood and developed multiple cancers over his lifetime, including skin cancers and urothelial carcinoma, a rare cancer of the urethra, a case study reports.
Of the multiple skin cancers, most of them were squamous cell carcinomas (SCCs), a recognized complication of JEB. His SCCs, along with the urothelial carcinoma and other health issues, were treated with multiple surgeries and coordinated care from a multidisciplinary medical team.
He is currently in remission, continues to live independently, and reports a good quality of life.
“We hypothesise that the urothelial carcinoma may have developed secondary to a permissive tumour microenvironment, which results from chronic inflammation and [scarring] in junctional epidermolysis bullosa,” researchers wrote.
Case details were described in the study, “Urothelial Carcinoma of the Penile Urethra as a Potential Secondary Complication of Junctional Epidermolysis Bullosa: A Case Report and Review of the Literature,” published in Case Reports in Dermatological Medicine.
Intermediate forms of JEB allow survival into adulthood
JEB is a rare genetic condition caused by a deficiency in laminin 332, a protein that helps anchor the layers of the skin together. Without it, the skin becomes fragile and prone to blisters.
Symptoms usually begin at birth or in early infancy. Severe forms are life-threatening in early childhood, while intermediate forms allow survival into adulthood but with varying degrees of disease severity.
SCC is a known complication of JEB and often develops in areas of chronic wounds and scarring. While the disease can also affect mucosal linings such as those of the respiratory, urinary, and gastrointestinal tracts, cancers arising in these areas have been less well studied.
In this report, researchers present the case of an 81-year-old man with intermediate JEB who developed multiple cutaneous SCCs over his lifetime alongside papillary urothelial carcinoma, a common type of bladder cancer that originates in the mucosal lining of the urinary tract.
“To our knowledge, this case represents one of the oldest reported cases of [intermediate JEB],” the team noted.
Patient developed frequent blisters beginning in childhood
Since childhood, he experienced frequent blisters and open sores, mainly on his limbs. As a teenager, he was diagnosed with pemphigus vegetans, a rare autoimmune skin blistering disease, and treated with high-dose corticosteroids.
However, his symptoms did not ease, and he developed complications, including Cushing’s syndrome (elevated levels of cortisol hormone in the blood) and a widespread fungal infection. At age 22, his diagnosis was revised to epidermolysis bullosa.
Over time, he developed other JEB-related complications, including deformed fingernails (dystrophic nails), hair loss (alopecia), and early dental disease due to poorly formed enamel.
His medical history also included hypothyroidism (underactive thyroid), rheumatoid arthritis, ischemic cardiomyopathy (an enlarged heart caused by coronary artery disease), and chronic blood flow problems in the lower legs.
Beginning at age 40, he developed multiple basal cell carcinomas, a slow-growing form of skin cancer, affecting the head and neck. A precancerous scalp lesion (lentigo maligna) was then found and completely removed. After that, he was diagnosed with a keratoacanthoma, a rapidly growing skin growth, on his right leg. His first SCC was diagnosed at age 68 on his left lower leg.
We present a case of JEB occurring in an 81-year-old with concurrent urothelial carcinoma. We hypothesise that the urothelial carcinoma may have developed secondary to a [scarred] and inflamed microenvironment that promotes [tumor growth], resulting from prolonged mucosal fragility in JEB.
At 71, doctors identified a metastatic SCC on his right leg, and enlarged groin lymph nodes were detected. Surgery was performed to remove the tumor and affected lymph nodes.
Around that time, further evaluation confirmed his diagnosis of JEB through clinical assessment, tissue examination, and genetic testing. He was found to carry two mutations in the LAMB3 gene, which encodes part of the laminin 332 protein complex. There was no known family history of skin disease.
At age 74, he noticed a non-healing ulcer near the urethral opening with recurrent blistering at the end of his penis. A biopsy confirmed invasive papillary urothelial carcinoma of the penile urethra. He underwent partial urethrotomy to remove the affected tissue and continues to receive regular surveillance. Imaging showed no spread to lymph nodes or distant organs.
Another metastatic SCC was found on his left leg during routine skin examination at the age of 75. Imaging revealed involvement of a groin lymph node, and he underwent further surgery. He later developed two additional SCCs confined to the skin of his legs, both treated with complete surgical removal.
Although the man continues to experience recurrent blisters and erosions on his lower legs, managed with dressings, both his SCCs and urothelial carcinoma are in remission. He remains under regular follow-up with a multidisciplinary care team, and lives independently and reports a good quality of life.
“We present a case of JEB occurring in an 81-year-old with concurrent urothelial carcinoma,” the researchers concluded. “We hypothesise that the urothelial carcinoma may have developed secondary to a [scarred] and inflamed microenvironment that promotes [tumor growth], resulting from prolonged mucosal fragility in JEB.”
