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Articles
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X-linked Emery-Dreifuss muscular dystrophy
14 November 2003 -
ulcerative colitis
2 March 2004Definition: Ulcerative colitis (UC) is generally considered an inflammatory disorder that always involves the rectum and may also involve more proximal portions of the colon, but always in a diffuse and continuous (non-segmental) fashion.
Earlier biopsy studies have shown that both rectal sparing and patchy disease may occur during the natural history of UC and may, in fact, be accentuated by oral or enema therapy. (#20410806#)
Images
ulcerative colitis : ruptured crypt granuloma : (...) -
Muir-Torre syndrome
4 May 2004Definition: The Muir-Torre syndrome is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies.
Images
sebaceous carcinoma in Muir-Torre syndrome
https://twitter.com/Konzult_/status/723984883744428033
https://twitter.com/KUSAURAP/status/695107281730433024
https://twitter.com/Levelsx5/status/735204830055137280
Synopsis
early onset colonic diverticula
cutaneous tumors (...) -
Bannayan-Riley-Ruvalcaba syndrome
5 March 2004BRRS; Bannayan-Ruvalcaba-Riley-Smith syndrome; Bannayan-Zonana syndrome ; Riley-Smith syndrome ; Ruvalcaba-Myhre-Smith syndrome ; Macrocephaly, pseudopapilledema, multiple hemangiomata ; Macrocephaly, multiple lipomas, hemangiomata
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fibrodysplasia ossificans progressiva
30 September 2009Definition: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification in distinct anatomic patterns.
Early preosseous lesions in FOP are clinically and histologically indistinguishable from the lesions of aggressive juvenile fibromatosis (AJF).
Although the genetic defect in FOP is unknown, bone morphogenetic proteins (BMPs) 2 (BMP2) and 4 (BMP4) are plausible candidates genes. (...) -
Niemann-Pick disease type C
30 May 2003Niemann-Pick disease type C, NPC
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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 (...) -
Hirschsprung disease
6 October 2003Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
Digital cases
HPC:90 : rectal mucosa biopsies
HPC:98 : rectal mucosa biopsies
HPC:151 : Hirschsprung disease - Rectal (...) -
placental infections
11 January 2005Examples
placental CMV infection
placental parvovirus B19 infection
Candida albicans
Fusobacterium sp.
Listeria monocytogenes
Images
Fetal parvovirus B19 infection.Erythroid precursors contain ground-glass nuclear inclusions
https://twitter.com/Heidi_Lehrke_DO/status/697136509015629825
Synopsis
acute subchorionitis
acute chorionitis
acute chorioamnionitis
necrotizing chorioamnionitis
villitis
intervillositis
amnionitis
acute chorioamnionitis
Etiology (...) -
osteoporosis-pseudoglioma syndrome
1 October 2003Etiology
LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype (#12579474#)
References
Audrey Koay M, Brown MA. Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton. Trends Mol Med. 2005 Mar;11(3):129-37. PMID: #15760771#