Reticular pigmentosa dermatopathy L81.8

Rare (described are <100 persons) disease pattern developing in childhood with initially macular pigmentation, later formation of a reticular network. Characteristic is also a non-scarring alopecia, an onychodystrophy and inconstant diffuse palmoplantar keratosis with pressure point associated callus-like hyperkeratoses.

Mutations are described in KRT14 (17q12-q21), a gene coding for keratin 14 (Burger B et al. 2019).

Dermatopathia pigmentosa reticularis is regarded as an allelic variant of the Naegeli-Franceschetti-Jadassohn syndrome, since mutations in KRT14- are also detectable in this genodermatosis.

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