6 research outputs found
Pachyonychia congenita with woolly hair in a ten month old infant
A 10-month-old female presented with severe progressive wedge-shaped
thickening and discoloration of all twenty nails. Further evaluations
revealed palmoplantar keratoderma along with recurrent acral blisters
causing residual crusted ulcers which were present during the past six
months. Other findings included scalp kinky hair and dental caries.
Past medical and family history had remarkable findings such as natal
teeth and similar skin lesions in her older brother since his infancy.
The patients′ clinical presentations and history are compatible
with pachyonychia congenita presenting with concomitant features of
both subtypes 1 and 2
A family with leukonychia totalis
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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Hereditary leiomyomatosis and renal cell carcinoma syndrome: A case report
A FAMILY WITH LEUKONYCHIA TOTALIS
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