Genodermatosis
Genodermatosis is a broad term that refers to a wide range of genetic skin disorders. These disorders can vary in their presentation, severity, and underlying genetic mutations. They can affect the skin in different ways, such as causing blistering, scaling, thickening, or abnormal pigmentation.
Some genodermatoses can also affect other parts of the body, such as the eyes, ears, teeth, or bones. While genodermatoses are typically inherited in an autosomal dominant or recessive pattern, some can also occur randomly, with no family history. Diagnosis of genodermatoses often involves a combination of clinical examination, family history, and genetic testing.
Examples of genodermatoses include the following:
- Dyskeratosis congenita
- Xeroderma pigmentosum (XP)
- Incontinentia pigmenti
- Keratosis follicularis (Darier’s disease)
- Epidermolysis bullosa (EB)
- Albinism
- Ichthyosis
- Porphyria cutánea tarda (PCT)
- Pseudoxanthoma elasticum (PXE)