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Lipoid proteinosis: Curious case of two siblings! [PDF]
Pooja Agarwal +3 more
doaj +2 more sources
Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of hyaline material in the skin and internal organs. Skin involvement is in the form of blisters in infancy healing with pock-like scars, yellow waxy papules,
Kritika Gupta +5 more
doaj +1 more source
Successful use of acitretin in an indian child with lipoid proteinosis
Introduction: Lipoid proteinosis is a rare autosomal recessive disease, characterized by deposition of Periodic Acid‒Schiff-positive hyaline material in the skin, mucous membrane of the upper aerodigestive tract, and different organs of the body ...
Shraddha P Kote +3 more
doaj +1 more source
Lipoid proteinosis: Unfamiliar skin findings delay diagnosis [PDF]
Robert Watson +2 more
exaly +2 more sources
A Rare Genodermatosis: Lipoid Proteinosis
Lipoid proteinosis is a rare genodermatosis that manifests with hoarseness and cutaneous findings. Its skin manifestations start with vesicles during the neonatal period, later scar formation and lichenification are observed.
Defne Özkoca +3 more
doaj +1 more source
Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 62-year-old male presented with hoarseness of voice since infancy, eyelid beading, and generalized ...
Rao, Roopa Shamsundar +3 more
+6 more sources
A lung mass: Not the usual suspect, but not above suspicion
Lipoid pneumonia is an entity that is not commonly thought of when faced with opacities on the chest radiograph. The radiological changes of lipoid pneumonia can mimic pneumonia or malignancy.
Kundan Reddy Saripalli +2 more
doaj +1 more source
A man with a history of cancer of the base of the tongue presenting with hemoptysis, recurrent pneumonia and crazy-paving patterns on CT was ultimately diagnosed with lipoid pneumonia, subsequently found to be associated with use of fish oil capsules and
Morten Høy Nielsen +2 more
doaj +1 more source
Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important protein-protein interactions in tissue homeostasis. Although the disease usually presents clinically with warty infiltration of the skin and mucous membranes and ...
AngooriGnaneshwar Rao, Divya Koppada
openaire +4 more sources
Urbach-Wiethe disease (lipoid proteinosis)
Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of ...
Ulku Kucuk +5 more
doaj +1 more source

