“An extremely rare mutation”
A 38-year-old presents with a 20-year history of nail dystrophy. They are noted to have absent dermatoglyphics on some fingers and toes, and the second digit on the 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.”
Want more clinical cases?
Join Figure 1 for free and start securely collaborating with other verified healthcare professionals on more than 100,000 real-world medical cases just like this one.