ABCA3-associated pulmonary diseases
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Articles
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ABCA3 deficiency
4 April 2008 -
laryngeal papillomatosis
29 April 2005Multiple papillomas on laryngeal mucosa. In children, they are related to HPV and frequently recur. They can cause respiratory obstruction and can be life threatening. Rarely do they undergo malignant transformation.
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progressive osseous heteroplasia
30 September 2009Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS1 gene leading to an inactivation of the alpha subunit of the G protein-complex.
See also
inherited ossifying diseases
References
Inherited ossifying diseases. Job-Deslandre C. Joint Bone Spine. 2004 (...) -
Maffucci syndrome
19 June 2003Maffucci, Maffucci disease, hemangiomatosis osteolytica
Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
Images
spindle cell hamngioma in Maffucci syndrome (...) -
Barrett esophagus
29 October 2003Barrett’s oesophagus, Barrett oesophagus, Barrett’s esophagus; Barrett mucosa; Barrett metaplasia; metaplastic endobrachyesophagus
See also : endobrachyesophagus
Images
PAS and Alcian Blue stain in Barrett esophagus
https://twitter.com/suraksharaob/status/763422410494185472
http://www.webpathology.com/case.asp?case=185
adenocarcinoma in Barrett esophagus mucosa
https://twitter.com/ARP_Press/status/731118754193674240
Links
at Johns Hopkins Pathology (...) -
Rothmund-Thomson syndrome
28 October 2003poikiloderma atrophicans and cataract
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granulomatosis with polyangiitis
8 July 2005Wegener granulomatosis; GPA
Definition: Wegener granulomatosis is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera.
Images
mastoid
https://twitter.com/chioseasi/status/700798795068538880
Wegener’s Granulomatosis in lung with vasculitis (...)
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