منابع مشابه
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness a...
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 کامل[Hyperkeratosis lenticularis perstans, or Flegel disease, with palmoplantar involvement].
Actas Dermosifiliogr. 2009;100:151-62 157 4. Libow LF, Coots NV. Lichen sclerosus following the lines of Blaschko. J Am Acad Dermatol. 1998;38:831-3. 5. Okamoto H, Mizuno K, Ohkuwa T. Unilateral linear lichen sclerosus et atrophicus. Eur J Dermatol. 1998;8:575-7. 6. Choi SW, Yang JE, Park HJ, Kim CW. A case of extragenital lichen sclerosus following Blaschko’s lines. J Am Acad Dermatol. 2000;43...
متن کاملFamilial 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 کاملPalmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.
In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome d...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.6.440