PMID: 2112090Apr 1, 1990Paper

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation

European Journal of Pediatrics
P RoyceA Kohlschuetter

Abstract

We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically, the disorder bears a certain resemblance to fragilitas oculi and the type VI (ocular) form of the Ehlers-Danlos syndrome, two conditions which are, themselves, not readily distinguishable. However, the hydroxylysine content of dermal collagen was normal, as was the activity of lysyl hydroxylase in cultured dermal fibroblasts, thus supporting the distinction of the brittle cornea syndrome as an independent entity. No abnormality was discernible in types I or III collagens synthesised by cultured fibroblasts, but electron microscopy revealed dramatic ultrastructural alterations in dermis in that distributed over its whole thickness were 20-60 microns wide "holes" or fibre-free spaces, filled with an amorphous material.

References

May 1, 1979·The Journal of Investigative Dermatology·R L MillerR E Priest
Dec 31, 1977·Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie. Albrecht Von Graefe's Archive for Clinical and Experimental Ophthalmology·W Behrens-BaumannU Langenbeck
Sep 1, 1976·Archives of Ophthalmology·G F JudischJ H Krachmer
Oct 27, 1972·Annals of the New York Academy of Sciences·J W Estes
Jan 1, 1972·Analytical Biochemistry·R L Miller
Jun 1, 1971·The British Journal of Ophthalmology·N D GregoratosK Papas
Jan 1, 1969·The British Journal of Ophthalmology·S W HyamsE Neumann
Jan 1, 1982·Methods in Enzymology·K I Kivirikko, R Myllylä
Mar 1, 1980·The British Journal of Ophthalmology·U TichoS Merin
Mar 1, 1959·American Journal of Ophthalmology·D P TUCKER
Oct 1, 1964·American Journal of Ophthalmology·W ARKIN

❮ Previous
Next ❯

Citations

Jan 25, 2011·Archives of Gynecology and Obstetrics·A IoscovichY Shapiro
Dec 23, 1998·Clinical and Experimental Dermatology·N P BurrowsF M Pope
May 8, 1999·Clinical and Experimental Dermatology·N P Burrows
Jan 20, 1999·Proceedings of the Association of American Physicians·H N Yeowell, L C Walker
Mar 18, 2017·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Angela F BradyFransiska Malfait
Jul 21, 2015·SpringerPlus·Mohammed Joudi Aboud, Manal Mohammed Kadhim
Sep 20, 2018·BMC Ophthalmology·Qi WanYingping Deng
Aug 1, 2020·Nature Reviews. Disease Primers·Fransiska MalfaitPeter H Byers

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.