Genodermatoses are a diverse group of inherited skin disorders resulting from genetic mutations. These conditions typically present at birth or in early childhood, affecting the skin, hair, and nails. Additionally, they may have other organ system manifestations or predispose to malignancy 1,2.
Terminology
Genodermatoses overlap to a degree with phakomatoses. The key differences are that genodermatoses primarily focus on skin-related disorders, while phakomatoses involve both skin and neurological abnormalities, and that although genodermatoses may affect other organs, they are mainly dermatological, whereas phakomatoses inherently involve both the skin and the nervous system, often with significant systemic involvement.
Nonetheless, a number of phakomatoses are also often considered genodermatoses.
Genodermatoses
Examples of genodermatoses include:
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