Ichthyoses and related keratinization disorders. Management, clinical features and genetics;Ichthyosen und verwandte verhornungsstörungen. Versorgung, klinik und genetik

Hautarzt

Volumn 55, Issue 10, 2004, Pages 931-941

  Traupe, H ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Genetics; Ichthyosis; Keratinization disorder; Network

Indexed keywords

ETRETIN; MACROGOL; RETINOID; SALICYLIC ACID DERIVATIVE;

ANGIOOSTEOHYPERTROPHY SYNDROME; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BULLOUS ICHTHYOTIC ERYTHRODERMA; CALCIFYING CHONDRODYSTROPHY; DISEASE CLASSIFICATION; DYSKERATOSIS; GENETIC COUNSELING; GENODERMATOSIS; GERMANY; GOVERNMENT; HEALTH CARE ORGANIZATION; HUMAN; ICHTHYOSIS; ICHTHYOSIS BULLOSA SIEMENS; ICHTHYOSIS VULGARIS; LAMELLAR ICHTHYOSIS; NETHERTON DISEASE; NETWORK FOR ICHTHYOSES AND RELATED KERATINIZATION DISORDERS; REFSUM DISEASE; REVIEW; SJOEGREN LARSSON SYNDROME; SKIN INFLAMMATION;

BIOPSY; DIAGNOSIS, DIFFERENTIAL; GENETIC COUNSELING; HUMANS; ICHTHYOSIS; KERATOSIS; PATIENT CARE TEAM; SELF-HELP GROUPS; SKIN; SYNDROME;

EID: 6344250463     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00105-004-0799-z     Document Type: Review

References (17)

1. Broughton BC, Steingrimmsdottir H, Weber CH, Lehmann AR (1994) Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichthiodystrophy. Nat Genet 7:189-194
2. Compton JG, DiGiovanna JJ, Johnston KA et al. (2002) Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp Dermatol 11:518-526
3. Hamm H, Meinecke P, Traupe H (1991) Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr 150:627-629
4. Has C, Seedorf U, Kannenberg F et al. (2002) Gas chromatography-mass spectrometry and molelcular genetic studies in families with the Conradi-Hünermann-Happle sydnrome. J Invest Dermatol 118:851-858
5. Jobard F, Lefevre C, Karaduman A et al. (2002) Lipoxygenase-3 (ALOX3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-113
6. Kolde G, Happle R,Traupe H (1985) Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis. Arch Dermatol Res 278:1-5
7. Komatsu N, Takate M, Otsuki N et al. (2002) Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK 5- derived peptides. J Invest Dermatol 118:436-443
8. Lefevre C, Audebert S, Jobard F et al. (2003) Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 12:2369-2378
9. Richard G, Brown N, Smith LE et al. (2000) The spectrum of mutations in erythrokeratodermias- novel and de novo mutations in GJB3. Hum Genet 106:321-329
10. Raghunath M, Hennies HC, Velten F et al. (1998) A novel in situ method for the detection of deficient transglutaminase in the skin. Arch Dermatol Res 290:621-627
11. Raghunath M, Hennies HC, Ahvazi B et al. (2003) Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 120:224-228
12. Raghunath M, Tontsidou L, Oji V et al. (2004) SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol 123:474-483
13. Traupe H (1989) The ichthyoses. A guide to clinical diagnosis, genetic counseling and therapy. Springer, Berlin Heidelberg New York Tokyo
14. Traupe H (2005) Ichthyosen, Erythrokeratodermien und verwandte Verhornungsstörungen. In: Traupe H, Hamm H (Hrsg) Pädiatrische Dermatologie, 2. Aufla. Springer, Berlin Heidelberg New York Tokyo (im Druck)
15. Traupe H, Happle R (1983) Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism. Eur J Pediatr 140:19-21
16. Traupe H, Kolde G, Happle R (1984) Autosomal-dominant lamellar ichthyosis: a new skin disorder. Clin Genet 26:457-461
17. Van Geel M, van Steensel MA, Küster W et al. (2002) HID and KID syndromes are associated with the same connexin 26 mutations. Br J Dermatol 146:938-942