Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
نویسندگان
چکیده
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.
منابع مشابه
A family with Bart-Pumphrey syndrome
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 ma...
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.
متن کاملSensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.
M utations in connexin 26 (GJB2, Cx26) cause autosomal recessive and occasionally dominant non-syndromic sensorineural hearing loss (SNHL). Cx26 mutations have also been identified in SNHL with dermatological features of autosomal dominant diffuse palmoplantar hyperkeratosis (DPPK). We describe a girl with bilateral sloping sensorineural hearing loss, striate palmoplantar hyperkeratosis (SPPK),...
متن کاملReport of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads.
Knuckle pads are a rare, frequently overlooked, thickening of the skin usually overlying the extensor surface of the proximal interphalangeal joints. They are well- circumscribed, benign lesions that generally do not require treatment. Idiopathic knuckle pads must be differentiated from similar appearing lesions or trauma-induced pseudo-knuckle pads. Knuckle pads have been observed in associati...
متن کاملEponyms in the Dermatology Literature Linked to Poland
Poland officially the republic of Poland, is a country in Central Europe. The total area of Poland is 312,679 square kilometres (120,726 sq mi), making it the 9th largest in Europe. Poland has a population of over 38.5 million people [1]. Polish is the official language. It is becoming an interesting location for research and development investments [1]. Many scientists and researchers originat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 1 شماره
صفحات -
تاریخ انتشار 1994