Dermatologic clues to inherited disease

Genetic disorders may affect any cutaneous structure, from the defective outer protective layers in the ichthyoses, to errors in the critical basement membrane zone in epidermolysis bullosa, to the disordered dermal integrity in Ehlers-Danlos syndrome. These and other important "genodermatoses" are reviewed, with particular attention to cutaneous clues to their diagnosis. The recent identification of the underlying molecular basis of all of these genetic disorders allows prenatal diagnosis based on molecular diagnosis in families with identified gene mutations.