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)

Intraoral facial and laryngeal features of tumoral calcinosis are reviewed in six patients of Jewish-Yemenite descent. Extraoral features included calcified masses, erythematous patches, and angular cheilitis. Oral soft tissue findings included papillary hyperplasia of the lip vermilion and velvety-red macules on the tongue, palate, and buccal mucosa. Gingival findings included advanced periodontitis and an erythematous marginal gingivitis. In all patients, orthognathic evaluation revealed a concave profile, retruded maxilla, and relative mandibular prognathism. Although previously reported clinical dental abnormalities were not present, extracted teeth demonstrated abnormal dentin. Hoarseness was present in all patients and was the earliest appearing feature in two patients. The appearance of these head and neck findings preceded the classical manifestations of tumoral calcinosis and may be helpful in the early diagnosis of this entity. The varied reported features of tumoral calcinosis support the notion that this disease may present multiple formes frustes with variable clinical expressivity.
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PMID:Head and neck manifestations of tumoral calcinosis. 813 34

Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring. Voice abnormalities have occasionally been described in other forms of the condition, and may be due to defects in the collagen of the vocal ligament. We report two cases of patients with EDS type VIII and hoarseness.
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PMID:Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. 2766 55