| HLP | hepatic lipoperoxidation; hind leg paralysis; holoprosencephaly; hyperkeratosis lenticularis perstan... |
|---|---|
| CREST Syndrome | 1. Calcinosis cutis 2. Raynaud's phenomenon 3. Esophageal ... |
| CRST Syndrome | 1. Calcinosis 2. Raynaud's Phenomenon 3. Sclerodactyly ... |
| A-T | ataxia telangiectasia |
| CREST | calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia [syndrome]... |
| ATM | Ataxia Telangiectasia Mutated |
|---|---|
| HHT | Hereditary Haemorrhagic Telangiectasia |
| HHT1 | Hereditary Haemorrhagic Telangiectasia Type 1 |
telangiectasis
| telangiectasia macularis eruptiva perstans | A disseminated eruption of telangiectases associated with erythematous and edematous macules. (05 Mar 2000) |
|---|---|
| acrodermatitis perstans | pustulosis palmaris et plantaris |
| Mansonella perstans | The "persistent filaria," a species widely prevalent in tropical Africa and northern South America where it infects human peritoneal and other body cavities, but is non-or mildly pathogenic; characteristic subperiodic microfilariae occur in peripheral blood. It is transmitted in Africa by the biting midges Culicoides austeni and C. Grahami. (05 Mar 2000) |
| hyperkeratosis lenticularis perstans | Small keratotic papules on the dorsa of the feet and legs, and occasionally elsewhere, with pinpoint keratotic papules of the palms and soles; onset in the fourth and fifth decades; possibly an autosomal dominant trait. Synonym: Flegel's disease. (05 Mar 2000) |
| erysipelas perstans faciei | Chronic, dusky red eruption of erysipelas on the face. (05 Mar 2000) |
| erythema dyschromicum perstans | Variously sized gray or red, slightly elevated macular lesions that tend to coalesce on the trunk, extremities, and face, commonly in dark-skinned Latin Americans; of unknown cause. Synonym: ashy dermatosis. (05 Mar 2000) |
| erythema figuratum perstans | A chronic recurring erythematous eruption consisting of small and large annular lesions, with a scant marginal scale, usually of unknown cause. Synonym: erythema figuratum perstans. (05 Mar 2000) |
| erythema perstans | Probably a chronic form of erythema multiforme in which the relapses recur so persistently that the eruption is almost permanent. (05 Mar 2000) |
| urticaria perstans | A form of chronic urticaria in which the wheals persist unchanged for long periods; includes urticarial vasculitis. (05 Mar 2000) |
| ataxia-telangiectasia | <neurology, oncology> An intriguing autosomal recessive disorder in which a single defective gene produces myriad and protean effects, presents with cerebellar ataxia, telangiectasias in the eyes and skin, immune deficiency and autoimmune phenomena, propensity for lymphoid and other malignancies, excessive sensitivity to ionising radiation, increased serum alpha-fetoprotein concentrations and a tendency for chromosome breakage and translocation. A syndrome characterised by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, slowly progressive mental deterioration and increasing cerebellar degeneration. There is evidence that heterozygotes show an increased susceptibility to malignancy as well, with breast cancer often cited. The gene was localised by linkage studies to chromosome 11q22-23, and recently cloned, revealing it to be homologous to the PI-3 kinase family so that prenatal diagnosis by RFLP analysis is possible. Other related genes are suspected to exist. Diagnosis in affected patients is made on clinical grounds, by detection of high concentrations of alpha-fetoprotein, and by a specialised cell culture assay for radiosensitivity and atypical radioresistant DNA synthesis. These cell culture methods are also used for prenatal diagnosis. A characteristic autopsy feature of ataxia-telangiectasia is the presence of empty basket cells in the cerebellum which results from degeneration of the previously contained Purkinje cells. Inheritance: autosomal recessive. (16 Dec 1998) |
| ataxia telangiectasia syndrome | ataxia telangiectasia |
| cephalo-oculocutaneous telangiectasia | An angioma involving the skin of the face, orbit, meninges, and brain. See: Sturge-Weber syndrome. (05 Mar 2000) |
| primary telangiectasia | angioma serpiginosum |
| hereditary haemorrhagic telangiectasia | <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications. Inheritance: autosomal dominant. (27 Sep 1997) |
| secondary telangiectasia | Telangiectasia related to a known cause of prolonged dermal vascular dilatation such as sunlight, varicose veins, and connective tissue diseases; often associated with atrophy of the skin. (05 Mar 2000) |
Á¦Ç°¸í |
ÆÇ¸Å»ç |
º¸ÇèÄÚµå | ¼ººÐ/ÇÔ·® | ±¸ºÐ/º¸Çè±Þ¿© |
|---|
Á¦Ç°¸í |
ÆÇ¸Å»ç |
º¸ÇèÄÚµå | ¼ººÐ/ÇÔ·® | ±¸ºÐ/º¸Çè±Þ¿© |
|---|