Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): A survey among 52 Japanese patients

Journal of the European Academy of Dermatology and Venereology

Volumn 21, Issue 8, 2007, Pages 1082-1085

  Ochiai, T ^a   Suzuki, Y ^b   Kato, T ^b   Shichino, H ^c   Chin, M ^c   Mugishima, H ^c   Orii, T ^d  

^a SURUGADAI NIHON UNIVERSITY HOSPITAL   (Japan)

^b GIFU UNIVERSITY   (Japan)

^c NIHON UNIVERSITY   (Japan)

^d CHUBU GAKUIN UNIVERSITY   (Japan)

Author keywords

Hunter syndrome; Mongolian spots; Mucopolysaccharidosis type II; Natural history

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY; HEALTH SURVEY; HUMAN; HUNTER SYNDROME; HYPERPIGMENTATION; INCIDENCE; INTERVIEW; JAPANESE; MAJOR CLINICAL STUDY; MALE; MONGOLIAN SPOT; POSTAL MAIL; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; HUMANS; INCIDENCE; JAPAN; MALE; MUCOPOLYSACCHARIDOSIS II; PIGMENTATION DISORDERS; PREVALENCE; QUESTIONNAIRES; SIBLINGS;

EID: 34548189793     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2007.02203.x     Document Type: Article

References (22)

1. Yamada Y, Tomatsu S, Sukegawa K et al. Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Hum Genet 1993; 92: 110-114.
2. Kato T, Kato Z, Kuratsubo I et al. Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J Hum Genet 2005; 50: 395-402.
3. Ito K, Ochiai T, Suzuki H, Chin M, Shichino H, Mugishima H. The effect of haematopoietic stem cell transplant on papules with 'pebbly' appearance in Hunter's syndrome. Br J Dermatol 2004; 151: 207-211.
4. Sapadin AN, Friedman IS. Extensive Mongolian spots associated with Hunter's syndrome. J Am Acad Dermatol 1998; 39: 1013-1015.
5. Grant BP, Beard JS, Castro F, Guiglia MC, Hall BD. Extensive Mongolian spots in an infant with Hurler syndrome. Arch Dermatol 1998; 134:108-109.
6. Rybojad M, Moraillon I, Oqier de Baulny H, Priqent F, Morel F. Tache mongolique étendue révélant une maladie de Hurler. Ann Dermatol Venereol 1999; 126: 35-37.
7. Beattie RM, Harvey D. Extensive and unusual Mongolian blue spots in a child with GM 1 gangliosodosis type one. J R Soc Med 1992; 85: 574-575.
8. Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 2003; 148: 1173-1178.
9. Uribe MGA. The mongoloid spot. Aust J Dermatol 1976; 17: 61-64.
10. Cordova AC. The Mongolian spot: A study of ethnic differences and a literature review. Clin Pediatr (Phila) 1981; 20: 714-719.
11. Kahana M, Feldman M, Abudi Z, Yurman S. The incidence of birthmarks in Israeli neonate. Int J Dermatol 1995; 34: 704-706.
12. Kikuchi I. Mongolian spots remaining in schoolchildren. A statistical survey in central Okinawa. J Dermatol 1980; 7: 213-216.
13. Lau JTK, Ching RM. Mongolian spots in Chinese children. Am J Dis Child 1982; 136: 863-864.
14. Leung AKC. Mongolian spots in Chinese children. Int J Dermatol 1988; 27: 106-108.
15. Okawa Y, Yokota R, Yamauchi A. On the extracellular sheath of dermal melanocytes in nevus fusco-ceruleus acromiodeltoideus (Ito) and Mongolian spot. An ultrastructural study. J Invest Dermatol 1979; 73: 224-230.
16. Hori Y, Niimura M, Ohara K, Kukita A. Ultrastructural observations of the extracellular sheath of dermal melanocytes in the nevus of Ota. Am J Dermatopathol 1982; 4: 245-251.
17. Peters C, Krivit W. Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome). Bone Marrow Transplant 2000; 25: 1097-1099.
18. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE. Long-term follow-up following bone marrow transplantation for Hunter syndrome. J Inherit Metab Dis 1999; 22: 638-648.
19. Imaizumi M, Gushi K, Kurobane I et al. Long-term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases. Acta Paediatr Jpn 1994; 36: 30-36.
20. Bergstrom SK, Quinn JJ, Greenstein R, Ascensao J. Long-term follow-up of a patient transplanted for Hunter's disease type IIB: A case report and literature review. Bone Marrow Transplant 1994; 14: 653-658.
21. Ochiai T, Ito K, Shichino H, Chin M, Mugishima H. Ultrastructural findings of cutaneous nerves in patients with Hunter's syndrome following hematopoietic stem cell transplant. Med Mol Morphol 2005; 38: 118-122.
22. Muenzer J, Lamsa JC, Garcia A, Dacosta J, Garcia J, Treco DA. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr Suppl 2002; 91: 98-99.