A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome

International Journal of Dermatology

Volumn 48, Issue 10, 2009, Pages 1078-1081

  Neoh, Ching Yin ^a   Chen, Huijia ^b   Ng, See Ket ^a   Lane, Ellen Birgitte ^b   Common, John Edmund Armourer ^b  

^a NATIONAL SKIN CENTRE   (Singapore)

^b INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIFUNGAL AGENT; ARGININE; CONNEXIN 26; GLYCINE; ISOTRETINOIN;

ACNE VULGARIS; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DIFFERENTIAL DIAGNOSIS; DRUG RESPONSE; ECTODERMAL DYSPLASIA; GENE MUTATION; HUMAN; HYPERKERATOSIS; KERATOCONJUNCTIVITIS; MALE; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; SYNDROME KID; TINEA CRURIS; TINEA PEDIS;

CONNEXINS; DEAFNESS; HUMANS; ICHTHYOSIS; KERATITIS; MALE; MUTATION; SYNDROME; YOUNG ADULT;

EID: 70349503827     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2009.04136.x     Document Type: Article

References (19)

1. Burns FS. A case of generalized keratoderma with unusual involvement of the eyes and nasal and buccal mucous membranes. J Cutan Dis 1915, 33:255-360.
2. Traupe H, Traupe H. Not an ichthyosis at all: the keratitis, ichthyosis-like hyperkeratosis and deafness (KID) syndrome. The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counseling and Therapy 1989, 198-202. In, ed, Berlin, Springer-Verlag
3. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, et al Keratitis, ichthyosis and deafness (KID syndrome): review of the literature and proposal of a new terminology. Paediatr Dermatol 1996, 13:105-113.
4. Richard G, Rouan F, Willoughby CE, et al Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002, 70:1341-1348.
5. Richard G. Connexin gene pathology. Exp Dermatol 2003, 28:397-409.
6. Richard G. Connexin disorders of the skin. Clin Dermatol 2005, 23:23-32.
7. Yotsumoto S, Hashiguchi T, Chen X, et al Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 2003, 148:649-653. et al
8. Janecke AR, Hennies HC, Günther B, et al GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet 2005, 133:128-131.
9. van Geel M, van Steensel MA, Kuster W, et al HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol 2002, 146:938-942.
10. Jan AY, Amin S, Ratajczak P, et al Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004, 122:1108-1113.
11. Meşe G, Richard G, White TW. Gap junctions: basic structure and function. J Invest Dermatol 2007, 127:2516-2524.
12. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol 2007, 156:1015-1019.
13. Szymko-Bennett Y, Russell LJ, Bale SJ, et al Auditory manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Laryngoscope 2002, 112:272-280.
14. Messmer EM, Kenyon KR, Rittinger O, et al Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 2005, 112:1-6.
15. Montgomery JR, White T, Martin B, et al A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. J Am Acad Dermatol 2004, 51:377-382.
16. Maintz L, Betz RC, Allam JP, et al Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. Eur J Dermatol 2005, 15:347-352.
17. Nyquist GG, Mumm C, Grau R, et al Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Am J Med Genet 2007, 143A:734-741.
18. Lee SW, Tomasetto C, Sager R. Positive selection of candidate tumour-suppressor genes by subtractive hybridization. Proc Natl Acad Sci USA 1991, 88:2825-2829.
19. Grob JJ, Breton A, Bonafe JL, et al Keratitis, ichthyosis and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol 1987, 123:777-782.