loading...| Preferred Name |
Angiokeratoma corporis diffusum |
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| Synonyms |
Fabry syndrome |
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| Definitions |
Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation. |
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| ID |
http://purl.obolibrary.org/obo/HP_0001071 |
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| comment |
Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. |
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| database_cross_reference |
MSH:D000795 SNOMEDCT_US:16652001 UMLS:C0002986 SNOMEDCT_US:124464003 |
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| definition |
Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation. |
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| has_exact_synonym |
Fabry syndrome |
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| has_obo_namespace |
human_phenotype |
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| id |
HP:0001071 |
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| label |
Angiokeratoma corporis diffusum |
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| notation |
HP:0001071 |
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| prefLabel |
Angiokeratoma corporis diffusum |
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| treeView | ||
| subClassOf |