Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.
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PMID:[Rothmund-Thompson syndrome with glaucoma. Endocrine study]. 631 63

The authors report one case of Thomson type congenital poikiloderma with major bone dysplasias. Acroplasia of all extremities with agenesis of tibia and radius, and a peculiar aspect of the face are in contrast with the scarcity of cutaneous symptoms, the absence of consanguinuity, cataract, photosensitivity. The position of Thomson type congenital poikiloderma among the congenital poikilodermas is reviewed.
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PMID:[Thomson-type congenital poikiloderma with major bone dysplasias]. 647 24

A 19-year old caucasian patient suffered from ulceration and scaring of his fingers since age two. During childhood, fibrosing contractures on the phalanges developed. Since puberty, his eunuch-like stature, bird-like face and exophthalmos had become under obvious. His hair was extraordinarily fine; his pubic hair rare. Radiological examination revealed ankylosis and osteoporosis of the phalanges and carpals. Angiography showed occlusion of multiple digital and interdigital arteries. Furthermore, a bilateral posterior cataract, restrictive respiratory disease, impaired glucose tolerance, hyperuricemia, proteinuria and primary hypogonadism were diagnosed. These findings are characteristic for the premature aging syndromes. The cardial symptoms of tall stature, bird-like face, pseudoexophthalmos, skleroderma-like and poikiloderma-like cutaneous lesions, scarce hair growth, early diabetes mellitus and arteriosclerosis led to the diagnosis of metageria.
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PMID:[Metageria--clinical manifestations of a premature aging syndrome]. 941 Aug 52

Until now less than 200 cases of Rothmund Thomson syndrome (RTS) also called Poikiloderma atrophicans have been reported. RTS is an autosomal recessive dermatosis characterized by athropy and teleangiectasia of the skin, juvenile cataract, hypogonadism and sceletal abnormalities. These osseous disorders include cortical hyperostosis mimicking rickets or chondrodysthropy and may mask early signs of malignant disorders. This seems to be a problem due to the fact that there is an association between osteosarcoma and RTS. The radiologic findings of both RTS and osteosarcoma in a 7 year old female are discussed.
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PMID:[Rothmund-Thomson syndrome and osteosarcoma]. 1043 71

A 49-year-old man was first seen in our department for the evaluation of scleroderma-like skin changes and a nonhealing ulcer on his leg from years before referral. His medical history was of long duration. His growth was stunted at the age of 12. At 21 years of age, the patient noted graying of the scalp hair, most prominent on his temples, and the process was progressively completed by the age of 23. At the same age, atrophy and thinning of the skin and loss of subcutaneous fat resulted in a tense, shining, and adherent appearance of his skin, most obvious on his face and extremities. Soon after, he developed a high-pitched, hoarse voice. He had undergone bilateral cataract surgery at the age of 30. Around the age of 46, he developed a unilateral nonhealing chronic leg ulcer (Figure 1). He had separated from his wife because of infertility. He was the first offspring of his second-degree healthy relative parents. The other 3 siblings had similar signs and symptoms. Our patient gave the history of premature graying of the hair of his younger brother at the age of 18 and his 2 younger sisters at the age of 12 and 16. His brother had recently received diagnoses of bilateral cataract and diabetes mellitus. All of the siblings had ceased growth from early adolescence. On physical examination, our patient's weight was 48 kg and his height was 150 cm. He had normal intelligence. He was speaking with a high-pitched and childish voice. He had a bird-like appearance with a beak-shaped nose. Mottled and diffuse pigmentation and poikiloderma appearance was conspicuous on his neck (Figure 2). The entire skin was smooth, shiny, and scleroderma-like, and a marked decrease in the subcutaneous fat was noted over the extremities. A deep cutaneous ulcer was evident on his slimmed leg. Digital ulcers were not found, and radial and dorsalis pedis pulses were palpable. Clinodactyly of the toes were conspicuous. His nails were dystrophic and he had used dentures from the age of 20. On examination of the external genitalia, his testes were smaller than normal. In the biopsy taken from the leg ulcer, there were no signs of malignancy. There were no signs ofosteomyelitis on x-ray. Biopsy of the normal skin revealed atrophic epidermis and thick dermis with hyalinization of the collagen fibers and absence of pilosebaceous structures (Figure 3). The patient's scalp hair was thin and sparse and there were few axillary and pubic hairs. His fasting plasma glucose level was normal.
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PMID:Werner syndrome in an Iranian family. 2113 29

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.
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PMID:Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 2114 35

In our institute, we have recently found a child Japanese monkey who is characterized by deep wrinkles of the skin and cataract of bilateral eyes. Numbers of analyses were performed to identify symptoms representing different aspects of aging. In this monkey, the cell cycle of fibroblasts at early passage was significantly extended as compared to a normal control. Moreover, both the appearance of senescent cells and the deficiency in DNA repair were observed. Also, pathological examination showed that this monkey has poikiloderma with superficial telangiectasia, and biochemical assay confirmed that levels of HbA1c and urinary hyaluronan were higher than those of other (child, adult, and aged) monkey groups. Of particular interest was that our MRI analysis revealed expansion of the cerebral sulci and lateral ventricles probably due to shrinkage of the cerebral cortex and the hippocampus. In addition, the conduction velocity of a peripheral sensory but not motor nerve was lower than in adult and child monkeys, and as low as in aged monkeys. However, we could not detect any individual-unique mutations of known genes responsible for major progeroid syndromes. The present results indicate that the monkey suffers from a kind of progeria that is not necessarily typical to human progeroid syndromes.
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PMID:Sporadic premature aging in a Japanese monkey: a primate model for progeria. 2536 57