Genodermatosis Clinic

At the UMass Memorial Genodermatosis Clinic, patients are evaluated for suspected or diagnosed genetic skin disorders (genodermatoses). This specialty clinic is held once every other month. It’s staffed by two board-certified pediatric dermatologists and two board-certified geneticists. It’s also attended by dermatology residents, pediatric dermatology fellows, pediatrics residents and medical students. We work together to clinically assess and test both pediatric and adult patients with skin findings that may indicate an underlying genetic condition.  Being evaluated in our multidisciplinary clinic typically reduces wait time for a diagnosis and management.

Examples of conditions that we frequently diagnose include:

  • Neurofibromatosis type 1 (NF-1)
  • Tuberous sclerosis (TS)
  • Ectodermal dysplasias (ED)
  • Ehlers-Danlos syndrome (EDS)

We also evaluate for:

  • Epidermolysis bullosa (EB)
  • Ichthyoses
  • Autoinflammatory conditions
  • Inherited cancer syndromes, such as Birt-Hogg-Dube syndrome, Muir-Torre syndrome, and Cowden syndrome
  • Any other genetic skin condition

What to Expect During Your Visit

Appointments are often one to two hours in duration and include thorough skin examinations as well as a detailed family history. Depending on the conditions in question, patients may be offered genetic testing, which can be performed at our facility as well.

You/your child will likely be asked to change to a gown/johnnie for a complete skin examination. At some point during the visit, the nurse will take you/your child’s height, weight, head circumference, and blood pressure, and take photos of important skin findings. Dermatology and pediatric residents or medical students will perform an assessment and review their findings with the attending dermatologists and geneticists. Other team members may also be asked to join the team in the room for a few moments. This is because UMass Memorial Medical Center is a teaching hospital, which means we help train doctors and other health care professionals.

Following your/your child’s exam, the team will return together to confirm the assessment and further direct a plan. If genetic testing is deemed necessary or helpful in confirming diagnosis, it may be offered on the day of the appointment or at a later date. 

We look forward to meeting with you! 

Helpful to Bring

You might find it useful to bring snacks, toys, games, books or electronic devices to pass the time if you have to wait. Also be prepared to answer questions about your family tree and any inherited conditions. Any photographs of you or your child’s skin condition or prior genetic testing would be helpful to bring as well. You may find it easier to leave other children at home if possible (unless they have similar findings that may be useful to show us). 

Clinic Location

We are currently located on the second floor (ground level) of UMass Memorial’s Hahnemann Campus at 281 Lincoln Street, Worcester. Appointments: 855-UMASS-MD (855-862-7763) and ask for the Genodermatosis Clinic.