Genetic Diseases that Affect Skin

Some genetic diseases impact the skin. Penn dermatologists diagnose and treat genetic diseases and related skin conditions. Frequently, Penn dermatologists take a multidisciplinary approach to care, working with dermatologic surgeons, dermatopathologists oncologists, colorectal surgeons, pediatricians, gynecologists, endocrinologists, orthopaedic surgeons, medical genetics researchers and others, to care for patients and their families.

Treatment at Penn for Genetic and Hereditary Diseases That Affect Skin

Patients with genetic diseases affecting the skin may or may not be aware of these inherited conditions. Skin problems may range from minor to extremely complex. Penn dermatologists have expertise in managing patients of all ages, including collaborating and transitioning children and adolescents under the care of physicians at The Children’s Hospital of Philadelphia to the physicians at Penn Medicine.

Penn dermatologists treat genetic diseases affecting the skin including:

Basal cell nevus syndrome or Gorlin syndrome – a rare genetic condition that involves the skin, nervous system, eyes, bone structure and endocrine glands with risks of numerous basal cell carcinomas and jaw cysts.

Muir-Torre syndrome – a hereditary condition characterized by sebaceous tumors of the skin and the potential for developing internal malignancies, most often colon cancer.

Cowden syndrome – a rare, inherited condition that causes multiple benign tumor-like growths and increased risk for breast, thyroid and uterine cancers. Common characteristics include an enlarged head size and trichilemmomas on the skin, face, hands, mouth and mucous membranes.

Tuberous sclerosis – a genetic disorder that affects the skin, brain and nervous system, kidneys and heart. Collagenomas, ash leaf macules and angiofibromas are common skin findings.

Neurofibromatosis – a genetic disorder of the nervous system and skin. The disease is characterized by findings that include café au lait macules, axillary freckling and numerous neurofibroms.

Gardner syndrome – a rare, genetic disorder characterized by multiple polyps in the colon, extra teeth, bony tumors of the skull and fatty cysts and/or fibrous tumors in the skin.