A rare case of absent dermatoglyphics

“An extremely rare mutation”

A 38-year-old male presents with a 20-year history of nail dystrophy. He is noted to have absent dermatoglyphics on some fingers and toes, and the second digit on his left hand also has a koilonychial appearance.

This case was shared by a podiatrist in the Figure 1 community. Below is a valuable discussion between physicians, where a dermatologist was able to assist in the diagnosis of this case.

Dermatologist: Naegeli-Franceschetti-Jadassohn syndrome is characterized by absent dermatoglyphs, nail dystrophy, and palmtoplantar keratoderma. Extremely rare keratin 14 mutation. That’s the “zebra”. The “horse” is lichen planus or psoriasis. Good case!

Podiatrist: Amazing! The signs all match up with Naegeli-Franceschetti-Jadassohn syndrome.

Are you a healthcare professional and looking for more? Become a Figure 1 member to see more clinical content relevant to your practice.