| 1. |
- Björck, Martin, et al.
(författare)
-
Fatal bleeding following delivery : a manifestation of the vascular type of Ehlers-Danlos' syndrome
- 2007
-
Ingår i: Gynecologic and Obstetric Investigation. - : S. Karger AG. - 0378-7346 .- 1423-002X. ; 63:3, s. 173-175
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction: The vascular form of Ehlers-Danlos' syndrome (type IV) is a potentially lethal genetic condition because of rupture of major arteries, often in the peri-partum period. Case Report: We report a 31-year-old primipara who died from a rupture of the right subclavian artery. The patient had several symptoms and signs typical of the disease. The rupture occurred during the expulsion-phase of delivery but was recognized only on day 9. Conclusion: Early recognition is crucial to avoid maternal mortality due to this genetic disorder. Once the condition is suspected, the clinical diagnosis is straightforward.
|
|
| 2. |
- Dahlqvist, Johanna, et al.
(författare)
-
Congenital ichthyosis : mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
- 2007
-
Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 44:10, s. 615-620
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood. Methods: To investigate genotype–phenotype correlations in ARCI, we selected 27 patients from 18 families with specific ultrastructural features of the epidermis. The characteristic findings using electron microscopy (EM) were abnormal lamellar bodies and elongated membranes in the stratum granulosum, classified as ARCI EM type III. DNA samples from a subset of affected individuals were screened for homozygous genomic regions, and a candidate gene region was identified on chromosome 5q33. The region coincides with the ichthyin gene, previously reported as mutated in ARCI. Results: Mutation screening of ichthyin revealed missense or splice-site mutations in affected members from 16 of 18 (89%) families with characteristics of ARCI EM type III. In a control group of 18 patients with ARCI without EM findings consistent with type III, we identified one patient homozygous for a missense mutation in ichthyin. Discussion: Our findings indicate a strong association between ultrastructural abnormalities in the granular layer of epidermis and ichthyin mutations. The results also suggest that EM provides a tool for specific diagnosis in a genetically homogenous subgroup of patients with ARCI.
|
|
| 3. |
|
|
