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. 2022 May 21;25:43–46. doi: 10.1016/j.jdcr.2022.05.008

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.