More Amazing Patient Success Stories

Recently, Dr. Judit O. Stenn, a key part of our team of physicians here at Windsor Dermatology, shared some amazing patient success stories. Dr. Stenn is an internationally recognized medical dermatologist and a member of the Attending Staff at the University Medical Center at Princeton. Specializing in hair-loss prevention and treatment in women, she is also Clinical Assistant Professor of Dermatology at UMDNJ-Robert Wood Johnson Medical School.

Uncovering a Hereditary Condition

The patient was a 62 year old male who with a history of basal cell carcinomas requiring yearly skin exams. He had known about biopsy-proven leiomyomas, benign smooth muscle tumors that are not premalignant, on his arms for many years. Because he disclosed information connecting hereditary renal cell carcinoma with multiple cutaneous leiomyomas, careful history was taken. We found the patient had a sister who died of renal carcinoma. Upon explaining this syndrome to him, he brought himself and his two daughters to NIH (National Institute of Health) for genetic testing. It turns out, they all carried the gene for this syndrome. The routine followup involved alternating yearly MRIs with ultrasound of the kidneys. With this careful followup on renal cell carcinomas (kidney cancer), if they develop, may be removed in time, helping to prevent a life-threatening situation.

Preparing for a High-Risk Pregnancy

The patient presented with common warts on her hands. At this time, she was 28-year-old woman and an examination of her hand found several nails showed dystrophy and triangular lunulae, the crescent-shaped whitish area of the bed of a fingernail or toenail. She also had absent patella of the knees (or kneecaps).

On questioning, she recalls that several relatives had renal dialysis and some of them actually died of kidney disease. She also recalled that her mother took her to several dermatologists because of her missing shaven nails and was told that it is nothing to worry about. Her mother also had similar nail deformities. Both the patient and her mother was counseled about a syndrome for nail–patella syndrome, which had skin manifestations of abnormal nails or missing nails, triangular lunula, absent patella and the possibility that affected women would deliver babies with dislocated hips.

The patient was advised that since she was about to become pregnant, she was to be followed as a high risk pregnancy carefully. Her baby was, in fact, delivered with dislocated hips, but because they were able to prepare for it, there were no complications. The little girl also has nail–patella syndrome, which means it presented in all three generations


Leiomyomas Lead to Life-Saving Screenings

The patient is a 53 year old woman who was diagnosed years prior with multiple leiomyomas (benign smooth muscle tumors that are not premalignant) and who also had an early hysterectomy due to multiple fibroids (also leiomyomas). She was contacted to explain the hereditary multiple leiomyoma renal carcinoma syndrome (kidney cancer). She was told to have an ultrasound of her kidneys and to notify her siblings as well to be checked. At her follow-up exam, she reported that everything was fine with her kidneys and that she told her siblings to be checked, but that they refused to comply.

Two years later, I saw the patient and she reported that her one of her brothers was in a car accident and while undergoing CAT scans, they found that he actually had a renal cell carcinoma. The patient and both of her siblings are being followed by yearly MRIs and CAT scans.