Table I.
RASopathies associated with cutaneous manifestations
| Syndrome | Common gene sequence variations | Possible cutaneous manifestations |
|---|---|---|
| Noonan syndrome∗ | PTPN11, SOS1 | Woolly or curly hair, plantar hyperkeratosis, ichthyosis, koilonychias, and multiple pigmented nevi, keratosis pilaris, sparse eyebrows, UO5 |
| CFC syndrome∗ | BRAF, MAP2K1, MAP2K2, KRAS | Multiple melanocytic nevi, hair abnormalities; curly wavy, or scarce hair; keratinization disorders (KP, UO, palmoplantar hyperkeratosis)2 |
| Costello syndrome‡ | HRAS | Loose, redundant skin; cutaneous papillomas, palmoplantar hyperkeratosis, sparse eyebrows, keratosis pilaris2 |
| Cornelia de Lange syndrome† | Various chromosomal rearrangements | Confluent eyebrows, curly eyelashes, general hirsutism, UO6 |
| Rubinstein-Taybi syndrome†‡ | CREBBP | Hirsutism, keloid formation, capillary hemangiomas, café-au-lait spots, abnormal dermatoglyphics, pilomatricomas, keratosis pilaris4 |
| Swyer syndrome‡§ | MAP3K1 | Sparse eyebrows, UO, keratosis pilaris, facial skin tags |
CFC, Cardiofaciocutaneous syndrome; KP, keratosis pilaris; UO, ulerythema ophryogenes.
Strong association with cutaneous manifestations listed, including UO.
Moderate association with cutaneous manifestations listed.
Possible association with UO.
Present case.