Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 21-year-old Black South African man with clinical features of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is described. The patient had the following anomalies: hypoplastic, peg-shaped teeth; fine, silky hair; absent lacrimal puncta resulting in secondary photophobia, blepharitis and corneal opacities. The hands and feet showed absent digits, symphalangism and displacement of bone consistent with ectrodactyly. In addition, the patient had extensive comedone naevus, a feature not previously reported in EEC syndrome. We stress that the dysplastic ectodermal features of EEC syndrome are not typical of either hidrotic or anhidrotic ectodermal dysplasia but fall into a class of their own. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC syndrome.
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PMID:A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus. 647 16

A 49-year-old woman presented with occipital headaches, dizziness, photophobia and vomiting for 2 weeks' status post posterior scalp mole removal by a general surgeon. The physical examination revealed occipital lesions with foul smelling purulent discharge mixed with clear fluid drainage, webbed neck with decreased range of motion, facial asymmetry and a low posterior hairline. A CT of head showed occipital skull defect providing a communicating pathway for scalp infection, an atlas fusion defect and an extensive pneumoencephaly. Further imaging showed low-lying cerebellar tonsils and fusion of the body of second and third cervical vertebrae. Klippel-Feil syndrome was diagnosed and the patient was successfully managed with duraplasty of occipital dura, placement of a lumbar drain and antibiotics. In patients with findings suggestive of Klippel-Feil syndrome and lesions proximal to the CNS, appropriate neuroimaging and possible neurosurgical consult should be considered prior to any surgical intervention.
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PMID:Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome. 2442 49

The conjunctiva is a clear tissue covering the white part of the eye and lines the back of the eyelids. Conjunctival diseases, such as symblepharon, cause inflammation, discharges, and photophobia. The treatment often requires excision of large parts of conjunctiva. Tissue engineering of conjunctival cells using human amniotic membrane (HAM) denuded of its epithelium as a basement membrane scaffold has been shown to be effective for covering conjunctival defects. However, most epithelial denudation protocols are time-consuming and expensive or compromise HAM's basement membrane structure and matrix components. We have previously described a method to de-epithelialize HAM using ice-cold urea (uHAM). In this report, we used this method to provide tissue-engineered constructs with cultivated conjunctival epithelial cells on uHAM in two patients, one with a giant conjunctival nevus and the other with a large symblepharon. Autologous conjunctival epithelial cells harvested from incisional biopsies of these two patients were cultured on the uHAM scaffold. The transplantation of tissue-engineered constructs to patients' ocular surface immediately after the removal of lesions showed successful reconstruction of the ocular surface. Postoperatively, there were neither recurrence of lesions nor epithelial defects throughout the follow-up (up to 7 and 19 months, respectively). This report highlights the translational potential of an efficient and inexpensive method to prepare de-epithelialized HAM as a basement membrane scaffold for cell-based tissue-engineered treatments of ocular surface disorders. Stem Cells Translational Medicine 2019;8:620&626.
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PMID:Urea-De-Epithelialized Human Amniotic Membrane for Ocular Surface Reconstruction. 3086 69