User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Acral Peeling Skin Syndrome
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Acral Peeling Skin Syndrome is a rare genetic skin condition. The top layer of the skin (the outermost “dead” layer) peels off easily. It usually happens on ...

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Acquired Von Willebrand Syndrome (AVWS)
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Acquired von Willebrand syndrome (AVWS) is a bleeding problem that starts later in life. It is not inherited from parents. It happens because another disease ...

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Acquired Thrombotic Thrombocytopenic Purpura (aTTP)
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Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare, life-threatening blood disorder. Your blood contains a protein–enzyme called ADAMTS13. In aTTP, ...

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Proliferative Polycythaemia
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Polycythaemia vera is a long-lasting blood cancer. Your bone marrow makes too many red blood cells. Sometimes white cells and platelets are high too. The blood ...

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Osler–Vaquez Disease
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Osler–Vaquez disease is an old name for polycythemia vera (PV). PV is a long-lasting blood disease where the bone marrow makes too many red blood cells. ...

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Acquired Primary Erythrocytosis
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Acquired primary erythrocytosis means your body has too many red blood cells because of a problem that starts inside the bone marrow itself, and this problem ...

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Types Of Acquired Polycythemia Vera
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Acquired polycythemia vera (PV) is a chronic blood cancer of the bone marrow in which the body makes too many red blood cells. Many people with PV also make ...

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Progressive Cephalothoracic Lipodystrophy
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Progressive cephalothoracic lipodystrophy is a rare body-fat loss disorder. “Progressive” means it slowly gets worse over time. “Cephalo-thoracic” means it ...

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Barraquer-Simons Syndrome
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Barraquer-Simons syndrome is a very rare condition where body fat slowly disappears from the upper half of the body—first the face, then the neck, shoulders, ...

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Acquired Partial Lipodystrophy (APL)
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Acquired partial lipodystrophy (APL) is a rare body-fat disorder that starts after birth (so it is acquired, not present at birth). People gradually lose the ...

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Idiopathic Inflammatory Myositis (IIM)
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Idiopathic inflammatory myositis is a condition where your immune system mistakenly attacks your muscles. This attack makes the muscles swell and get sore. ...

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Acquired Idiopathic Inflammatory Myopathy (IIM)
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Acquired idiopathic inflammatory myopathy (IIM) is a group of rare diseases where your immune system wrongly attacks your own muscles. “Acquired” means it ...

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Acquired Hypertrichosis Lanuginosa (AHL)
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Acquired hypertrichosis lanuginosa (AHL) is a rare condition in adults. Very fine, soft, light-colored “baby-like” hair (lanugo) grows suddenly on the face and ...

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Lawrence–Seip syndrome (Berardinelli–Seip Congenital Lipodystrophy)
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Lawrence–Seip syndrome—also called Berardinelli–Seip congenital lipodystrophy (BSCL) or congenital generalized lipodystrophy (CGL)—is a very rare, inherited ...

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Lawrence Syndrome
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Lawrence syndrome is another name for acquired generalized lipodystrophy (AGL). In this rare condition, a person who was born with normal body fat gradually ...

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Acquired Lipoatrophic Diabetes
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Acquired lipoatrophic diabetes is a rare condition where a person gradually loses most or all of their body fat after birth. Because fat tissue is missing, the ...

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Acquired Generalized Lipodystrophy (AGL)
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Acquired generalized lipodystrophy (AGL) is a rare condition where a person gradually loses almost all body fat under the skin (subcutaneous fat) after birth. ...

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Acquired Epidermolysis Bullosa (EBA)
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Acquired epidermolysis bullosa (EBA) is a rare autoimmune skin disease. “Autoimmune” means your immune system accidentally attacks part of your own body. In ...

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Acquired Non-Histamine-Induced Angioedema
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Acquired non-histamine-induced angioedema is sudden, deep swelling that happens in the skin, lips, tongue, throat, gut, or genitals. It is acquired, which ...

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Acquired C1 Inhibitor Deficiency
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Acquired C1 inhibitor deficiency is a problem of the body’s natural “brakes” for swelling. The C1 inhibitor (often written as C1-INH) is a protein in your ...

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