Cutis laxa and differential diagnosis [58 genes]

Cutis laxa is a set of hereditary or acquired disorders characterized by sagging and/or wrinkled skin, which has lost its elasticity and gives an appearance of premature aging. This phenotype is almost always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers. It may be associated with skeletal or developmental abnormalities and, in some cases, severe systemic involvement. Numerous variants of cutis laxa have been described, which are differentiated according to the mode of inheritance, the extent of visceral involvement, associated anomalies, and the severity of the disease.

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This service includes cutis laxa genes and those entities that can be confused during the differential diagnosis carried out by a dermatologist. Thus, the differential diagnosis is focused on diseases that must be considered during this process due to their superimposable or overlapping skin manifestations with those detected in one form or another of cutis laxa.

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 or palliation of associated comorbidities in patients with cutis laxa.

Service indicated when there is a moderate or high clinical suspicion of the disease.