Naegeli–Franceschetti–Jadassohn syndrome

Also known as: Dermatopathia pigmentosa reticularis

Reticulate pigmentation with hypohidrosis and keratoderma.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, pigmentation from age 2 onwards
Gene(s) involved: KRT14

Etiology & mechanism

Keratin 14 defects affecting basal keratinocyte function.

Gene(s) involved (1)

KRT14

Symptoms & signs (6)

absent dermatoglyphsdental anomalieshypohidrosisnail dystrophypalmoplantar keratodermareticulate pigmentation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.