Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Focal dermal hypoplasia syndrome (FDH) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail abnormalities. A rare instance of focal dermal hypoplasia syndrome is reported as characterized by papillary gingival hyperplasia. Differential diagnostic guidelines that separate focal dermal hypoplasia from a host of other skin and mucous membrane disorders are discussed along with therapeutic modalities and the possible relationship of human papillomavirus to focal dermal hypoplasia syndrome.
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PMID:Focal dermal hypoplasia. Current concepts and differential diagnosis. 277

Cleidocranial dysostosis (CCD) is a rare congenital disorder characterized by the heredity, the disturbance of the ossification of the skull and clavicles, and dental anomaly. The entity of CCD was established by Marie and Sainton in 1898. In Japan about 150 cases have been reported since Haneda's first report in 1933. Recently we experienced a rare case of CCD associated with the temporal arachnoid cyst. The patient was a 61-year-old male who had suffered from mild spastic paresis of the left upper extremity since his childhood. One morning he suddenly noticed motor weakness of the left upper and lower extremities and was transferred to our hospital. On admission we observed the left hemiparesis (MMT 3/5), the left central type facial palsy, and the left long tract signs. Physical examination disclosed frontal bossing, depression of the forehead, sloped shoulders, cone-shaped thorax, and thoracic scoliosis. Plain skull radiograph showed persistent metopic suture and frontal fontanelle, many wormian bones around coronal and lambdoid sutures. Plain radiographs of the systemic bones also showed typical features of CCD such as dysplasia of the lateral third of the bilateral clavicles, deformities of the cervical vertebral bodies, thoracic scoliosis, and wide symphysis. CT scan disclosed the right putaminal hemorrhage, the right temporal arachnoid cyst, enlargement of the right middle fossa, thinning of the temporal bone adjacent to the arachnoid cyst. It also showed the atrophy of the right cerebral peduncle and midbrain. Surgical treatment was performed to remove the hematoma and release the cyst. Several neurological disorders associated with CCD have been reported such as epilepsy, mental retardation, spastic paresis etc.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of cleidocranial dysostosis associated with arachnoid cyst]. 343 33

Megacystis-microcolon-intestinal hypoperistalsis is a rare congenital disorder characterized by urinary bladder distention and hypoperistalsis throughout the entire gastrointestinal tract. We present a new case with the typical clinical and radiological findings of the syndrome. This diagnosis should be suspected in patients who present with intestinal obstruction and urine retention and should be confirmed with imaging techniques, including abdominal plain films and urinary ultrasonography. Histological findings are non-specific; we found thinning of the intestinal muscle layer and connective tissue proliferation. The prognosis is generally very poor. Our patient died from sepsis at the age of 25 days.
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PMID:[Megabladder-microcolon-intestinal hypoperistalsis syndrome]. 1108 70

Neurofibromatosis type 1, also called von Recklinghausen's disease, is a hereditary congenital disorder that affects tissues of neuroectodermal or mesodermal origin. This disease has various manifestations, including pigmented skin lesions, cutaneous neurofibromas, skeletal abnormalities, and tumors of the central/peripheral nervous and gastrointestinal systems, and vascular abnormalities. Because of vasculopathy, part of the vessel wall may be replaced by neurofibromatosis tissue. Involvement of the internal thoracic artery is, however, extremely rare. Off-pump coronary artery bypass grafting using the left internal thoracic artery was performed for coronary arterial disease in a patient with neurofibromatosis, and the residual left internal thoracic artery vessel pathology was investigated. The left internal thoracic artery vessel showed intimal proliferation, medial thinning, and fragmentation of elastic tissue. However, these findings were not typical for von Recklinghausen's neurofibromatosis. Internal thoracic artery graft selection was feasible for coronary artery bypass grafting in a patient with neurofibromatosis type 1.
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PMID:Was the internal thoracic arterial graft selection for coronary artery bypass grafting appropriate in a patient with neurofibromatosis-1? 3071 96