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ePaper created 2014-09-15, 12:31:02 | version 1.32.01
Steijlen’s genodermatology working group focused on clinical characterization, genetic studies and therapeutic investigations of cornification disorders. Ichthyosis bullosa of Siemens (see figure page 80) is a blistering disorder with autosomal dominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe.[4,5] Keratins K1 and K10 have been implicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in ichthyosis bullosa of Siemens.[6] Mutations in the highly conserved regions of K1, a member of the type II gene cluster, were excluded. The gene coding for keratin 2e is also located in the type II gene cluster and the expression of the gene coincides with the occurrence of epidermolytic hyperkeratosis. Sequence analysis revealed the presence of mutations in the K2e gene in patients with ichthyosis bullosa of Siemens.[7] Three different mutations were detected, one in the 1A domain and two in the 2B domain of the rod.[8] References 1. Happle R. The lines of Blaschko: a developmental pattern visualizing functional X-chromosome mosaicism. Curr Probl Dermatol. 1987; 17: 5-18. 2. Happle R, Steijlen PM, Kolde G. Naevus corniculatus: a new acantholytic disorder. Br J Dermatol. 1990; 122: 107-12. 3. Effendy I, Happle R. Linear arrangement of multiple congenital melanocytic nevi. J Am Acad Dermatol. 1992; 27: 853-4. 4. Steijlen PM, Perret CM, Schuurmans Stekhoven JH, et al. Ichthyosis bullosa of Siemens: further delineation of the phenotype. Arch Dermatol Res. 1990; 282: 1-5. 5. Steijlen PM, van Dooren-Greebe RJ, Happle R, et al. Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids. Br J Dermatol. 1991; 125: 469-71. 6. Steijlen PM, Kremer H, Vakilzadeh F, et al. Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa. J Invest Dermatol. 1994; 103: 282-5. 7. Kremer H, Zeeuwen P, McLean WH, et al. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol. 1994; 103: 286-9. 8. Kremer H, Lavrijsen AP, McLean WH, et al. An atypical form of bullous congenital ichthyosiform erythro- derma is caused by a mutation in the L12 linker region of keratin 1. J Invest Dermatol. 1998; 111: 1224-6. Therapy studies Alopecia areata (AA), a frequent hair disease which may cause total hair loss, was studied by Happle and his colleagues. Topical immunotherapy with diphenylcyclopropanone (DCP) was developed as a pathogenesis based therapy for AA. In untreated patients with progressive AA, the mean peribulbar T4/T8 ratio was 4: 1, whereas in untreated patients with stable AA, the ratio was 2: 1. Among treated patients with a good response to diphencyprone, the mean T4/T8 ratio was 1: 1, while in patients with poor or no response to treatment, the ratio was 0.7. Topical immunotherapy considerably alters the peribulbar T4/T8 ratio in AA.[1] Several studies have shown the efficacy of topical immunotherapy 100 BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:40 Pagina 100