Skin Disorders Discoveries in the Year of Discovery

December Discoveries – Skin Disorders

As part of FDNA’s Year of Discovery, FDNA collaborated with the National Foundation for Ectodermal Dysplasias, sponsored by GeneDx, to research and promote awareness of Skin Disorders throughout the month of December.

About Skin Disorders

Abnormalities of the hair, skin, sweat glands, nails, and teeth are frequently associated with various genetic diseases. The list of rare skin disorders is lengthy, with a wide range of severity and symptoms. Often, the features associated with these conditions are present at birth or develop within the first few years of life, though detection during pregnancy is also possible. Some of the associated features of many skin disorders include:

• Skin lesions
• Abnormal or missing nails
• Sparse hair and eyebrows
• Absent teeth or delayed dentition, and more.

Ectodermal Dysplasias

Nearly 200 types of syndromes are classified under a category of skin disorders known as “Ectodermal Dysplasias,” identified by the specific combination of symptoms that are present in the given individual. One in every 10,000 children per year are born with a form of Ectodermal Dysplasia, such as Coffin-Siris syndrome, several forms of Ehlers-Danlos syndrome, and Trichorhinophalangeal syndromes. More information about these conditions can be found at the National Foundation for Ectodermal Dysplasias.

Expanding Resources through Technology

Typically, the process of diagnosing and treating rare skin disorders involves consulting various clinical specialists. With advancements in technology, clinicians are able to easily access and utilize improved resources, which can aid in the tests and evaluations used to identify and gain a greater understanding of different syndromes. Thanks to the collection of many facial images of patients diagnosed with these rare diseases, FDNA’s platform, Face2Gene Suite, can learn valuable information on their clinical presentation. In result, we have been able to create and validate a model for the facial patterns that are common among these individuals. Below you will find some of the validated facial masks of skin disorders generated by Face2Gene.

The above, along with myriad other syndromes, are available
for patient evaluations via Face2Gene CLINIC.