Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0031099 (periodontitis)
 12,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
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PMID:A distinct variant of the Ehlers-Danlos syndrome. 51 6

Ehlers-Danlos syndrome is a rare disorder, comprising a group of related inherited disorders of connective tissue, resulting from underlying abnormalities in the synthesis and metabolism of collagen. This proposal is specifically concerned with Ehlers-Danlos syndrome classic type (formerly Types I-III), which is characterized by joint hypermobility and susceptibility to injury/arthritis, skin and vascular problems (including easy bruising, bleeding, varicose veins and poor tissue healing), cardiac mitral valve prolapse, musculo-skeletal problems (myopathy, myalgia, spinal scoliosis, osteoporosis), and susceptibility to periodontitis. No treatment is currently available for this disorder. The novel aspect of this proposal is based on: (i) increasing scientific evidence that nutrition may be a major factor in the pathogenesis of many disorders once thought to result from defective genes alone; (ii) the recognition that many of the symptoms associated with Ehlers-Danlos syndrome are also characteristic of nutritional deficiencies; (iii) the synergistic action within the body of appropriate combinations of nutritional supplements in promoting normal tissue function. We therefore hypothesize that the symptoms associated with Ehlers-Danlos syndrome may be successfully alleviated using a specific (and potentially synergistic) combination of nutritional supplements, comprising calcium, carnitine, coenzyme Q(10), glucosamine, magnesium, methyl sulphonyl methane, pycnogenol, silica, vitamin C, and vitamin K, at dosages which have previously been demonstrated to be effective against the above symptoms in other disorders.
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PMID:A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements. 1560 55

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue heritable disorders. EDS type IV is a rare form that presents typical clinical signs, such as easy bruising and haematomas at sites of trauma, skin manifestations (translucent skin with visible veins), and joint hyperlaxity. To illustrate the dermatological features and describe an aggressive periodontitis, a symptom not yet reported in this EDS type, we present a case of a 23-year-old young man. This patient has been suffering from bruised skin, haematomas, and varicose veins in his legs. These lesions, typical of EDS type IV, were associated with trauma followed by slow and difficult cicatrization. Teeth loss and clinical attachment loss in all the remaining teeth, a symptom compatible with a severe destruction of the periodontal support, was reported after orthodontic treatment. The treatment is limited to control the disease and teeth loss. Considering this new clinical symptom associated with EDS type IV, we suggest that the use of orthodontic apparatus should be carefully considered in such patients.
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PMID:Ehlers-Danlos syndrome (EDS) type IV: review of the literature. 1722 Dec 6