Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0314719 (dry eye)
 2,625 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied a mother and daughter with an extremely rare constellation of signs and symptoms. One or both had absent lacrimal puncta, nasolacrimal duct obstruction, chronic dacryocystitis, dry eyes, and epiphora. Systemic findings included salivary gland hyposecretion, dental hypoplasia and dysplasia, cup-shaped ears with hearing loss, and digital anomalies. These findings are consistent with those of the lacrimo-auriculo-dento-digital syndrome, a genetic disorder. Our study supports the autosomal dominant inheritance of this syndrome, delineates the ophthalmic manifestations, and provides evidence that renal anomalies are part of the disorder.
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PMID:Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome. 843 Jul 36

A 52 year old Chinese woman with a 25 year history of sicca syndrome (primary Sjogrens syndrome) was investigated for 3 episodes of haemoptysis. Clinical examination was unremarkable except for the presence of dry eyes and xerostomia. Computed tomography of the chest revealed a lobulated mass in the posterior basal segment of the left lower lobe. Histopathological examination of this resected nodule confirmed the diagnosis of nodular amyloidosis. The normal radiolabelled serum amyloid P component scintigraphy and the absence of monoclonal plasma cell dyscrasia in the bone marrow strongly support the diagnosis of localised nodular pulmonary AL amyloidosis in this patient. Nodular pulmonary amyloidosis can be associated with sicca syndrome and often simulates bronchogenic carcinoma, bronchiectasis or pulmonary tuberculosis.
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PMID:Localised nodular pulmonary amyloidosis in a patient with sicca syndrome. 1120 Jul 24

Osteopoikilosis is an uncommon sclerosing bone dysplasia of unknown etiology. It is usually detected as a coincidental finding at radiographic examination. Mild joint pain and swelling may be seen in 15-20% of cases. Osteopoikilosis is rarely associated with rheumatoid arthritis. In this case report a young man with osteopoikilosis who was diagnosed as having rheumatoid arthritis complicated with dry eyes is presented. Although patients with osteopoikilosis may have articular symptoms, those patients should be carefully examined for a possible association with a rheumatic condition.
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PMID:Osteopoikilosis in a patient with rheumatoid arthritis complicated with dry eyes. 1739 71

Ectodermal dysplasia (ED) is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ED, the most common being hypohidrotic ED. It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth), and hypohidrosis (reduced ability to sweat). It is also associated with distinctive facial features, such as the prominent forehead, thick lips, flattened nasal bridge, and thin wrinkled skin. Ocular anomalies are less frequently observed, the most common ones being dysplasia of the lacrimal gland or meibomian gland that leads to dry eye and variable corneal involvement. We report a case of a 9-year-old child of hypohidrotic ED presenting with bilateral infantile glaucoma managed by the implantation of glaucoma drainage devices (GDDs) after a failed trabeculotomy and trabeculectomy in both eyes.
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PMID:Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma. 3054 Jun 72