Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of the skin followed by unilateral craniofacial atrophy of su bcutaneous tissues, including fat, muscle and bone. Heredi...Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of the skin followed by unilateral craniofacial atrophy of su bcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the occurrence of PFH i n one of two identicalmale twins reported heremakes this possibility unlikely. P FH usually occurs in the first two decades of life, and the clinical presentatio n resembles linear scleroderma. PFH may be complicated by autoimmune, neurologic al, ocular and dental disorders. Management of PFH comprises a long term follow -up of somatic disorders, and prevention of psychological problems. Treatment o f PFH is symptomatic and consists of plastic surgery after the disease activity has stopped. Conclusion: The occurrence of PFH in one of a monozygotic twin pair suggests that genetic factors are not involved in its aetiology. Early diagnosi s of PFH and accurate follow-up is essential to disclose the occurrence of comp lications.展开更多
Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated wi...Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated with cone dystrophy,previously reported in e lderly men.Methods:Ophthalmologic examinations were p erformed,and the RDH5gene was analyzed by direct genomic sequencing.Results:Twin 23-year-old sisters with high myopic refrac-tive errors of approximately -13dio pters were diagnosed as having fundus albipunctatus.Their photopic electroretino-graphic responses were markedly red uced,and cone dys-trophy was diagnosed.One twin had ma cular degeneration with reduced best-corrected visual acuity,while the other twin had normal maculae with good vis ual acuity.A com-pound heterozygous mutation,Val132Met and Arg280His,in the RDH5gene was found in both sisters.Conclusions:Cone dystrophy can be present in pati ents with fundus al-bipunctatus,not only elderly men bu t also young women.The clinical severity differed betw een monozygotic twins with fundus albipunctatus and cone d ystrophy.Clinical Relevance:The patients sex is not critical for the presence of cone dystrophy in patients with fu ndus albipunctatus.The discordant findings in the twins indicate that factors other than genetics influenced the p henotype.展开更多
Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Sevente...Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Intervention(s): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Main Outcome Measure(s): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Result(s): Dysgerminoma and atrophic ovarian stromal and tubal structures. Conclusion(s): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.展开更多
文摘Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of the skin followed by unilateral craniofacial atrophy of su bcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the occurrence of PFH i n one of two identicalmale twins reported heremakes this possibility unlikely. P FH usually occurs in the first two decades of life, and the clinical presentatio n resembles linear scleroderma. PFH may be complicated by autoimmune, neurologic al, ocular and dental disorders. Management of PFH comprises a long term follow -up of somatic disorders, and prevention of psychological problems. Treatment o f PFH is symptomatic and consists of plastic surgery after the disease activity has stopped. Conclusion: The occurrence of PFH in one of a monozygotic twin pair suggests that genetic factors are not involved in its aetiology. Early diagnosi s of PFH and accurate follow-up is essential to disclose the occurrence of comp lications.
文摘Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated with cone dystrophy,previously reported in e lderly men.Methods:Ophthalmologic examinations were p erformed,and the RDH5gene was analyzed by direct genomic sequencing.Results:Twin 23-year-old sisters with high myopic refrac-tive errors of approximately -13dio pters were diagnosed as having fundus albipunctatus.Their photopic electroretino-graphic responses were markedly red uced,and cone dys-trophy was diagnosed.One twin had ma cular degeneration with reduced best-corrected visual acuity,while the other twin had normal maculae with good vis ual acuity.A com-pound heterozygous mutation,Val132Met and Arg280His,in the RDH5gene was found in both sisters.Conclusions:Cone dystrophy can be present in pati ents with fundus al-bipunctatus,not only elderly men bu t also young women.The clinical severity differed betw een monozygotic twins with fundus albipunctatus and cone d ystrophy.Clinical Relevance:The patients sex is not critical for the presence of cone dystrophy in patients with fu ndus albipunctatus.The discordant findings in the twins indicate that factors other than genetics influenced the p henotype.
文摘Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Intervention(s): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Main Outcome Measure(s): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Result(s): Dysgerminoma and atrophic ovarian stromal and tubal structures. Conclusion(s): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.
