Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài:Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports | Bchetnia et al. Journal of Medical Case Reports 2010 4 108 http content 4 1 108 CASE REPORTS CASE REPORT Open Access Co existence of mal de Meleda and congenital cataract in a consanguineous Tunisian family two case reports Mbarka Bchetnia 1 2 Ahlem Merdassi3 Cherine Charfeddine1 Fatma Mgaieth3 Selma Kassar4 Farah Ouechtati3 Ibtissem Chouchene3 Hamouda Boussen5 Mourad Mokni2 6 Amel Dhahri-Ben Osman6 Med Samir Boubaker4 Sonia Abdelhak 1 and Leila Elmatri3 Abstract Introduction Mal de Meleda is a rare form of palmoplantar keratoderma with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently mutations in the ARS component B gene ARS MIM 606119 on chromosome have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene HSF4 MIM 602438 may result in both autosomal dominant and autosomal recessive congenital cataracts. Case presentation A Tunisian family with two female siblings aged 45 and 30 years presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1 20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8 10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms -55G C and -60G C . The splice mutation 4A-G within intron 12 of the HSF4 gene which has been previously .
