A family with Bart-Pumphrey syndrome
نویسندگان
چکیده مقاله:
All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in male and female and autosomal dominant pattern of inheritance.
منابع مشابه
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.
متن کاملDeafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed.
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which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. A B C Fig. 1. Pretreatment photograph. (A) Extensive absence of skin on the left lower extremity, (B) a ruptured blister on the right hand, and (C) nail deformity of the left great toe. Bart syndrome is a rare inherited disorder characterized by the localize...
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عنوان ژورنال
دوره 10 شماره Suppl.2
صفحات 7- 7
تاریخ انتشار 2007-12-01
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