Multiple basal cell carcinomas

These skin findings were the latest manifestation of a condition that the patient had been diagnosed with at age 32: basal cell nevus syndrome (BCNS), also called Gorlin syndrome. This syndrome is characterized by multiple biopsy-proven BCCs, palmar pitting, frontal bossing, scoliosis, and gum cysts. This patient had had gum cysts since she was 8 years old; her sister and mother had similar gum cysts and her mother had at least 1 BCC. BCNS is caused by an inheritable defect in the Patched 1 (PTCH1) gene, leading to various findings—including numerous BCCs at a young age.¹

The Oncology team started the patient on the oral small-molecule chemotherapy agent vismodegib, 150 mg/d. The patient was also referred to Medical Genetics and Wound Care. Although her diagnosis had been made clinically years earlier, genetic testing was performed and confirmed a defect in the PTCH1 gene. This helped with surveillance plans. A computed tomography scan of the head revealed a nasal dermoid cyst of the ethmoid sinus that the Ear, Nose, & Throat and Neurology teams felt safe to observe.

After 3 months of therapy with vismodegib, the patient had significant improvement of facial lesions and significant re-epithelialization of the crown.

Patients on vismodegib often deal with adverse effects, but adjusted dosing regimens have proved to improve tolerability. This patient had substantial adverse effects including fatigue, hair loss, loss of taste, and weight loss (26 lbs). Because of these adverse effects, her regimen was adjusted to 1 month of every other day active treatment and 2 months off treatment, cycled continuously. With this regimen, her weight returned to normal and her sense of taste returned for most days in the treatment cycle.

She has been tolerating this regimen for 3 years with continued control of BCCs.

‌

Photos and text for Photo Rounds Friday courtesy of Jonathan Karnes, MD (copyright retained). Dr. Karnes is the medical director of MDFMR Dermatology Services, Augusta, ME.

These skin findings were the latest manifestation of a condition that the patient had been diagnosed with at age 32: basal cell nevus syndrome (BCNS), also called Gorlin syndrome. This syndrome is characterized by multiple biopsy-proven BCCs, palmar pitting, frontal bossing, scoliosis, and gum cysts. This patient had had gum cysts since she was 8 years old; her sister and mother had similar gum cysts and her mother had at least 1 BCC. BCNS is caused by an inheritable defect in the Patched 1 (PTCH1) gene, leading to various findings—including numerous BCCs at a young age.¹

The Oncology team started the patient on the oral small-molecule chemotherapy agent vismodegib, 150 mg/d. The patient was also referred to Medical Genetics and Wound Care. Although her diagnosis had been made clinically years earlier, genetic testing was performed and confirmed a defect in the PTCH1 gene. This helped with surveillance plans. A computed tomography scan of the head revealed a nasal dermoid cyst of the ethmoid sinus that the Ear, Nose, & Throat and Neurology teams felt safe to observe.

After 3 months of therapy with vismodegib, the patient had significant improvement of facial lesions and significant re-epithelialization of the crown.

Patients on vismodegib often deal with adverse effects, but adjusted dosing regimens have proved to improve tolerability. This patient had substantial adverse effects including fatigue, hair loss, loss of taste, and weight loss (26 lbs). Because of these adverse effects, her regimen was adjusted to 1 month of every other day active treatment and 2 months off treatment, cycled continuously. With this regimen, her weight returned to normal and her sense of taste returned for most days in the treatment cycle.

She has been tolerating this regimen for 3 years with continued control of BCCs.

‌

Photos and text for Photo Rounds Friday courtesy of Jonathan Karnes, MD (copyright retained). Dr. Karnes is the medical director of MDFMR Dermatology Services, Augusta, ME.

These skin findings were the latest manifestation of a condition that the patient had been diagnosed with at age 32: basal cell nevus syndrome (BCNS), also called Gorlin syndrome. This syndrome is characterized by multiple biopsy-proven BCCs, palmar pitting, frontal bossing, scoliosis, and gum cysts. This patient had had gum cysts since she was 8 years old; her sister and mother had similar gum cysts and her mother had at least 1 BCC. BCNS is caused by an inheritable defect in the Patched 1 (PTCH1) gene, leading to various findings—including numerous BCCs at a young age.¹

The Oncology team started the patient on the oral small-molecule chemotherapy agent vismodegib, 150 mg/d. The patient was also referred to Medical Genetics and Wound Care. Although her diagnosis had been made clinically years earlier, genetic testing was performed and confirmed a defect in the PTCH1 gene. This helped with surveillance plans. A computed tomography scan of the head revealed a nasal dermoid cyst of the ethmoid sinus that the Ear, Nose, & Throat and Neurology teams felt safe to observe.

After 3 months of therapy with vismodegib, the patient had significant improvement of facial lesions and significant re-epithelialization of the crown.

Patients on vismodegib often deal with adverse effects, but adjusted dosing regimens have proved to improve tolerability. This patient had substantial adverse effects including fatigue, hair loss, loss of taste, and weight loss (26 lbs). Because of these adverse effects, her regimen was adjusted to 1 month of every other day active treatment and 2 months off treatment, cycled continuously. With this regimen, her weight returned to normal and her sense of taste returned for most days in the treatment cycle.

She has been tolerating this regimen for 3 years with continued control of BCCs.

‌

Photos and text for Photo Rounds Friday courtesy of Jonathan Karnes, MD (copyright retained). Dr. Karnes is the medical director of MDFMR Dermatology Services, Augusta, ME.