Naegeli Syndrome
Naegeli Syndrome Causes
Similar to Dermatopathia pigmentosa reticularis, Negeli syndrome is a genetic defect that results from a deficiency in a particular protein known as keratin 14. Naegeli is a skin condition inherited via autosomal dominant pattern. This rare abnormality can leave carriers without any fingerprints or ridges on the skin.
Naegeli Syndrome Definition
The Naegeli syndrome, otherwise known as the Naegeli-Franceschetti-Jadassohn syndrome, is a rare skin condition. This genetic defect is autosomal dominant in form, with pigmentation of the reticular skin as the most striking characteristic. Named after Professor Oskar Naegeli, a Swiss dermatologist and master chess player, the Naegeli syndrome often affects the palms and soles of humans.
Naegeli Syndrome Diagnosis
To determine the nature of skin thickening, a thyroid profile is usually done. This test may also help identify hypothyroidism in conjunction with Naegeli syndrome. An ANA test to determine scleroderma as well as a skin biopsy may also be recommended. In early diagnosis, esophageal motility tests may also help.
Naegeli Syndrome Symptoms and Signs
One of the most striking signs of the Naegeli syndrome is the complete absence of identifying ridges or lines on the fingers. Other symptoms include diminished sweat gland functionality, as well as the thickening of the palms and soles due to the absence of hyperkeratosis.