“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.
See the full case and diagnosis on Figure 1
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.”
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