Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results from the absence of activity of procollagen I N-proteinase (pNPI), the enzyme that excises the N-propeptide of type I and type II procollagens. The pNPI enzyme is a metalloproteinase containing properdin repeats and a cysteine-rich domain with similarities to the disintegrin domain of reprolysins. We used bovine cDNA to isolate human pNPI. The human enzyme exists in two forms: a long version similar to the bovine enzyme and a short version that contains the Zn++-binding catalytic site but lacks the entire C-terminal domain in which the properdin repeats are located. We have identified the mutations that cause EDS type VIIC in the six known affected human individuals and also in one strain of dermatosparactic calf. Five of the individuals with EDS type VIIC were homozygous for a C-->T transition that results in a premature termination codon, Q225X. Four of these five patients were homozygous at three downstream polymorphic sites. The sixth patient was homozygous for a different transition that results in a premature termination codon, W795X. In the dermatosparactic calf, the mutation is a 17-bp deletion that changes the reading frame of the message. These data provide direct evidence that EDS type VIIC and dermatosparaxis result from mutations in the pNPI gene.
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PMID:Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 1041 73

We here report the case of a 18-year old patient who was referred for evaluation of pigmented subconjunctival tumor of the left eye mimicking uveal melanoma. The patient reported that the lesion had evolved rapidly during the previous months. Eye exam showed prominent dark brown lesion adjacent to the limbus between 3 and 9 hours, measuring 10 mm x 6 mm (A). Ultrasonographic biomicroscopy revealed cystic structure communicating with the vitreous cavity, suggesting the diagnosis of uveal hernia rather of melanoma. During a more thorough interview, the patient reported that he had undergone transfixing keratoplasty for cloudy patch secondary to blunt trauma from stone's throw dating back 10 years. We assumed that the scleral wall had been damaged, leading to the development of scleromalacia with uveal hernia. The patient had recently had an acute episode of vomiting which could have lead to an increase in lesion size. The patient was followed up for several weeks, during which the lesion was stable. The patient underwent surgery with successful uveal tissue reintegration and sclera closure (B).
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PMID:[Post-traumatic scleromalacia]. 2951 34