Vago, B., Hausser, I., Hennies, Hans C., Enk, A. and Jappe, U. (2007) Hyalinosis cutis et mucosae. Journal der Deutschen Dermatologischen Gesellschaft, 5 (5). pp. 401-405. ISSN 1610-0379Metadata only available from this repository.
Hyalinosis cutis et mucosae is a rare autosomal recessive disorder which is characterized by deposition of hyaline material around the basement membrane of the skin and mucous membranes. Typical clinical symptoms are hoarseness, infiltration of the mucous membranes and papular verrucous skin changes. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect. We report on a 24-year-old man, who had first been seen in our department at the age of seven and had undergone the necessary diagnostic procedures and who revisited 17 years later with hoarseness and extensive verrucous skin changes at elbows and knees which were removed by excision. A new mutation of the ECM1 gene was identified.
|Additional Information:||Unmapped bibliographic data: ST - Hyalinosis cutis et mucosae [Field not mapped to EPrints] LB - 7 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]|
|Subjects:||Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
|Schools:||School of Applied Sciences|
|Depositing User:||Hans Hennies|
|Date Deposited:||14 Jul 2016 13:56|
|Last Modified:||29 Jul 2016 14:39|
Downloads per month over past year
Repository Staff Only: item control page