BACKGROUND: Hunter's syndrome is associated with several cutaneous findings. For instance, papules with 'pebbly' appearance are a specific marker for the disease. However, it remains uncertain whether they disappear after haematopoietic stem cell transplant (HSCT). OBJECTIVES: To investigate the papules with 'pebbly' appearance before and after HSCT in infants with Hunter's syndrome, and to clarify the effect of HSCT on papules. PATIENTS: We observed five Japanese boys with Hunter's syndrome who had received HSCT at 4-11 years of age. RESULTS: The post-HSCT physical examinations revealed that papules disappeared completely within 35 days after the transplant with progressive reduction of cutaneous tightness in all the patients. Histochemical findings showed that papules contained a large amount of hyaluronic acid in the extracellular materials of the dermis and sulphated acid mucopolysaccharides in dermal fibroblasts before HSCT. CONCLUSIONS: These results suggest that papules with a 'pebbly' appearance fade away through the digestion of a large amount of hyaluronic acid in cutaneous tissues by normal tissue histiocytes or enzymes of donor origin at an early stage after HSCT.
BACKGROUND:Hunter's syndrome is associated with several cutaneous findings. For instance, papules with 'pebbly' appearance are a specific marker for the disease. However, it remains uncertain whether they disappear after haematopoietic stem cell transplant (HSCT). OBJECTIVES: To investigate the papules with 'pebbly' appearance before and after HSCT in infants with Hunter's syndrome, and to clarify the effect of HSCT on papules. PATIENTS: We observed five Japanese boys with Hunter's syndrome who had received HSCT at 4-11 years of age. RESULTS: The post-HSCT physical examinations revealed that papules disappeared completely within 35 days after the transplant with progressive reduction of cutaneous tightness in all the patients. Histochemical findings showed that papules contained a large amount of hyaluronic acid in the extracellular materials of the dermis and sulphated acid mucopolysaccharides in dermal fibroblasts before HSCT. CONCLUSIONS: These results suggest that papules with a 'pebbly' appearance fade away through the digestion of a large amount of hyaluronic acid in cutaneous tissues by normal tissue histiocytes or enzymes of donor origin at an early stage after HSCT.
Authors: Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymańska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith Journal: Orphanet J Rare Dis Date: 2011-11-07 Impact factor: 4.123