Definition: Birt-Hogg-Dube syndrome (BHD) is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and acrochordons, and concurrent internal tumors, such as colonic polyps and renal carcinoma.
Birt-Hogg-Dube syndrome (BHD) is caused by mutation in the gene FLCN encoding folliculin (MIM.607273)
Synopsis
pulmonary lesions
pulmonary cysts (pulmonary basilar cysts - pulmonary cysts of the Birt-Hogg-Dube syndrome)
pleuropulmonary blebs
spontaneous (...)
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Birt-Hogg-Dube syndrome
27 November 2004 -
chalazion
11 March 2004meibomian gland lipogranuloma
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uncombable hair syndrome
23 November 2004pili trianguli et canaliculi
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Mowat-Wilson syndrome
20 September 2004Mowat-Wilson syndrome (MWS) is an MCA-MR condition first delineated among the heterogeneous group of patients with Hirschsprung disease and mental retardation (MR).
The condition is associated with microcephaly, epilepsy, a facial gestalt and severe mental retardation. The spectrum of possibly associated malformations is wide and encompasses, in decreasing frequency order, hypospadias, renal anomalies, congenital cardiac defect, agenesis/hypoplasia of the corpus callosum and Hirschsprung (...) -
autosomal dominant hypercholesterolemia
3 April 2005Etiology
autosomal dominant familial hypercholesterolaemia (FH) mutations in the low density lipoprotein (LDL)-receptor mutations in apolipoprotein B genes mutations in PCSK9, encoding a putative proprotein convertase (MIM.607786) in HCHOLA3 (MIM.603776)
Images
tuberous xanthoma associated with familial hypercholesterolemia https://twitter.com/KUSAURAP/status/737866086092279808
Etiology
dyslipidemia familial hypercholesterolemia
See also (...) -
GM1 gangliosidosis
29 April 2016Images
Suspected skeletal dysplasia with pulmonary hypoplasia @ 37gw. Small placenta (304g) : GM1 gangliosidosis https://twitter.com/sranna86/status/899780925445165056 Placental metabolic dysfunction due to GM1 gangliosidosis Placental shows vacuolisation of syncytiotrophoblast, intermediate trophoblast, and stromal Hofbauer cells. AR lysosomal storage disease characterised by def of acid beta-galactosidase resulting in accumulation of gangliosides and MPS in tissues.
GM1 (...) -
Sandhoff disease
4 June 2006Definition: Sandhoff disease, also called Hexosaminidase A and B deficiency, is an autosomal recessive lipid storage disease that causes progressive destruction of nerve cells in the brain and spinal cord.
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides (GM2-gangliosidosis), particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (MIM.272800).
Sandhoff disease is caused by mutation in the alpha (...)
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