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Updated: Jun 13, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
A family with leukonychia totalis
Kamran Balighi1, Fatemeh Moeineddin, Vahideh Lajevardi
1Departement of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Abstract:
A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance.
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