Skin disorders (aplasia cutis congenita, facial focal dermal dysplasia, Goltz-Gorlin syndrome) and differential diagnosis [51 genes]

The Skin disorders panel (aplasia cutis congenita, facial focal dermal dysplasia, Goltz-Gorlin syndrome) includes a heterogeneous group of disorders that have in common a defective skin formation, either focally or generalized. Within this group of skin disorders, we can also include the study of dimples, redundant skin, preauricular appendages, accessory tragus, or congenital dyskeratosis, among others. Although the Skin disorders service has focused on the study of the following entities or clinical signs with a possible genetic origin and their differential diagnosis:

• Aplasia cutis congenita.
• Facial focal dermal dysplasia.
• Goltz-Gorlin syndrome.

• Aplasia cutis congenita: 1 to 3 in every 10,000 newborns.
• Facial focal dermal dysplasia: unknown.
• Goltz-Gorlin syndrome: unknown. More than 300 individuals are described in the literature.

Recommended service at birth or during the first months/years of life because a skin disorder that falls within one of the three previous groups and for which a genetic origin is suspected. Whether this suspicion is due to the accompanying skin signs, the location, the extent, or the characteristics of the condition.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of comorbidities in syndromic patients.

When a congenital skin disorder is detected within one of the three groups included in this panel and for which a genetic origin is suspected. Whether this suspicion is due to the accompanying skin signs, the location, the extent, or the characteristics of the condition.