Hyalinosis cutis et mucosae.
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.
Vago
Bernadette
B
Department of Dermatology, University of Heidelberg, Germany. bernadette.vago@med.uni-heidelberg.de
Hausser
Ingrid
I
Hennies
Hans Christian
HC
Enk
Alexander
A
Jappe
Uta
U
D000293:Adolescent; D000328:Adult; D002648:Child; D004550:Elbow / Q000473:pathology / Q000601:surgery; D016326:Extracellular Matrix Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006685:Hoarseness / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007717:Knee / Q000473:pathology / Q000601:surgery; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics / Q000473:pathology* / Q000601:surgery*; D008297:Male; D009092:Mucous Membrane / Q000473:pathology* / Q000601:surgery*; D009154:Mutation
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins