角膜炎・魚鱗癬・難聴症候群
WordNet
- partial or complete loss of hearing (同)hearing_loss
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- any of several congenital diseases in which the skin is dry and scaly like a fish
- inflammation of the cornea causing watery painful eyes and blurred vision
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/11/09 02:34:40」(JST)
[Wiki en表示]
Keratitis-ichthyosis-deafness syndrome |
Classification and external resources |
ICD-10 |
GroupMajor.minor |
ICD-9 |
xxx |
OMIM |
148210 242150 |
DiseasesDB |
32841 32842 |
Keratitis–ichthyosis–deafness syndrome (also known as "Erythrokeratodermia progressiva Burns,"[1] "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID syndrome,") presents at birth/infancy and is characterized by pregressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.[2]:483,513[3]:565
It is caused by a mutation in connexin 26.[citation needed]
See also
- Senter syndrome
- Ichthyosis hystrix
- List of cutaneous conditions
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 770. ISBN 1-4160-2999-0.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
English Journal
- Successful Treatment with Alitretinoin of Dissecting Cellulitis of the Scalp in Keratitis-Ichthyosis-Deafness Syndrome.
- Prasad SC, Bygum A.SourceDepartment of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark. sumangali@hotmail.co.uk.
- Acta dermato-venereologica.Acta Derm Venereol.2012 Nov 13. doi: 10.2340/00015555-1499. [Epub ahead of print]
- Abstract is missing (Letter).
- PMID 23150172
- Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.
- Sakabe J, Yoshiki R, Sugita K, Haruyama S, Sawada Y, Kabashima R, Bito T, Nakamura M, Tokura Y.
- The Journal of dermatology.J Dermatol.2012 Sep;39(9):814-5. doi: 10.1111/j.1346-8138.2011.01414.x. Epub 2011 Nov 21.
- PMID 22098592
Japanese Journal
- Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications
- HARUNA Kunitaka,SUGA Yasushi,OIZUMI Ami,MIZUNO Yuki,ENDO Hideharu,SHIMIZU Toshiaki,HASEGAWA Toshio,IKEDA Shigaku
- Journal of dermatology 37(7), 680-682, 2010-07-01
- NAID 10026637476
- Keratitis-ichthyosis-deafness syndrome with unusual hypopigmentation
- KIM Beom Joon,KIM Yeon Jin,YOO Kwang Ho,PARK Kui Young,KIM Myeung Nam,SONG Kye Yong,MUN Seog Kyun
- Journal of dermatology 35(12), 798-800, 2008-12-01
- NAID 10025199536
- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
Related Links
- INTRODUCTION Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare ectodermal disorder of which hardly a hundred cases have been published in literature. The clinical triad of progressive vascularizing keratitis, sensorineural ...
- KID syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin ...
Related Pictures
★リンクテーブル★
[★]
- 英
- keratitis-ichthyosis-deafness syndrome
[★]
[★]