OBJECTIVE: To describe and characterize a new disorder of hyaluronan metabolism associated with marked abnormalities of cutaneous tissue and to determine whether a relationship with a phenotypically similar disorder in the shar-pei dog exists. METHODS: Biopsy specimens of the skin of a child with extreme cutaneous thickening and folding were examined by light and electron microscopy. The concentration of hyaluronan and the activity of hyaluronidase were measured in the patient's serum and plasma, respectively, and the activity of hyaluronan synthase was examined in cultured dermal fibroblasts. Hyaluronan concentration was also measured in the plasma of 23 shar-pei and 34 control dogs. RESULTS: The patient's skin displayed gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 microg/L) during infancy. Hyaluronan synthase activity of cultured dermal fibroblasts was increased, whereas hyaluronidase activity in plasma was normal (5.5 +/- 0.08 IU/L). Plasma hyaluronan concentration was higher in the shar-pei dogs than in control dogs (median, 378 microg/L vs 73 microg/L, respectively). CONCLUSION: The child we describe has a novel disorder of hyaluronan metabolism, which appears to result from abnormal control of hyaluronan synthesis. An analogous disorder may be present in the shar-pei dog.
OBJECTIVE: To describe and characterize a new disorder of hyaluronan metabolism associated with marked abnormalities of cutaneous tissue and to determine whether a relationship with a phenotypically similar disorder in the shar-pei dog exists. METHODS: Biopsy specimens of the skin of a child with extreme cutaneous thickening and folding were examined by light and electron microscopy. The concentration of hyaluronan and the activity of hyaluronidase were measured in the patient's serum and plasma, respectively, and the activity of hyaluronan synthase was examined in cultured dermal fibroblasts. Hyaluronan concentration was also measured in the plasma of 23 shar-pei and 34 control dogs. RESULTS: The patient's skin displayed gross accumulation of hyaluronan, and the serum concentration of hyaluronan was markedly elevated (up to 3100 microg/L) during infancy. Hyaluronan synthase activity of cultured dermal fibroblasts was increased, whereas hyaluronidase activity in plasma was normal (5.5 +/- 0.08 IU/L). Plasma hyaluronan concentration was higher in the shar-pei dogs than in control dogs (median, 378 microg/L vs 73 microg/L, respectively). CONCLUSION: The child we describe has a novel disorder of hyaluronan metabolism, which appears to result from abnormal control of hyaluronan synthesis. An analogous disorder may be present in the shar-pei dog.
Authors: Joshua M Akey; Alison L Ruhe; Dayna T Akey; Aaron K Wong; Caitlin F Connelly; Jennifer Madeoy; Thomas J Nicholas; Mark W Neff Journal: Proc Natl Acad Sci U S A Date: 2010-01-11 Impact factor: 11.205
Authors: Mia Olsson; Jennifer R S Meadows; Katarina Truvé; Gerli Rosengren Pielberg; Francesca Puppo; Evan Mauceli; Javier Quilez; Noriko Tonomura; Giordana Zanna; Maria José Docampo; Anna Bassols; Anne C Avery; Elinor K Karlsson; Anne Thomas; Daniel L Kastner; Erik Bongcam-Rudloff; Matthew T Webster; Armand Sanchez; Ake Hedhammar; Elaine F Remmers; Leif Andersson; Lluis Ferrer; Linda Tintle; Kerstin Lindblad-Toh Journal: PLoS Genet Date: 2011-03-17 Impact factor: 5.917
Authors: Mia Olsson; Linda Tintle; Marcin Kierczak; Michele Perloski; Noriko Tonomura; Andrew Lundquist; Eva Murén; Max Fels; Katarina Tengvall; Gerli Pielberg; Caroline Dufaure de Citres; Laetitia Dorso; Jérôme Abadie; Jeanette Hanson; Anne Thomas; Peter Leegwater; Åke Hedhammar; Kerstin Lindblad-Toh; Jennifer R S Meadows Journal: PLoS One Date: 2013-10-09 Impact factor: 3.240