H syndrome and Muckle-Wells syndrome

Journal of the American Academy of Dermatology

Volumn 61, Issue 2, 2009, Pages 365-

  Molho Pessach, Vered ^a   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; DIFFERENTIAL DIAGNOSIS; GENE; GENE MUTATION; GENE SEQUENCE; GENODERMATOSIS; HUMAN; LETTER; MUCKLE WELLS SYNDROME; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SLC 29 A3 GENE; SYNDROME H;

AMYLOIDOSIS; DEAFNESS; DIAGNOSIS, DIFFERENTIAL; GENES, DOMINANT; HUMANS; HYPERPIGMENTATION; IMMUNOHISTOCHEMISTRY; KERATOSIS; SKIN DISEASES; SYNDROME; URTICARIA;

EID: 67650141084     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2009.04.040     Document Type: Letter

References (4)

1. Molho-Pessach V., Agha Z., Aamar S., Glaser B., Doviner V., Hiller N., et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 59 (2008) 79-85
2. El-Darouti M.A., Marzouk S.A., and Abdel-Halim M.R. Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol 45 (2006) 239-244
3. Hoffman H.M., Mueller J.L., Broide D.H., Wanderer A.A., and Kolodner R.D. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29 (2001) 301-305
4. Molho-Pessach V., Lerer I., Abeliovich D., Agha Z., Abu Libdeh A., Broshtilova V., et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 83 (2008) 529-534