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	<title>KOMUNITAS PENYAKIT ANEH</title>
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		<title>KOMUNITAS PENYAKIT ANEH</title>
		<link>http://asaku20.wordpress.com</link>
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		<item>
		<title>Bosa&#8230;aaa&#8230;a..n!!</title>
		<link>http://asaku20.wordpress.com/2010/09/02/bosa-aaa-a-n/</link>
		<comments>http://asaku20.wordpress.com/2010/09/02/bosa-aaa-a-n/#comments</comments>
		<pubDate>Thu, 02 Sep 2010 02:00:01 +0000</pubDate>
		<dc:creator>Admin</dc:creator>
				<category><![CDATA[Uncategorized]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/2010/09/02/bosa-aaa-a-n/</guid>
		<description><![CDATA[Tiap hari cuma ngeblog, tiada kerjaan, jadi pengangguran kelas keong. Online kaya orang dungu. STRES. Aku tercipta hanya untuk berkelahi dengan penyakit aneh ini. Pupus sudah semua mimpiku. Aku ingin jadi programmer handal. Aku ingin jadi orang sukses, kaya dan terkenal. SEMUA MIMPI! Tubuhku pelan2 HANCUR digeragoti kematian sel yang mengering. NAMPAK DUNGU di hadapan [...]<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=155&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Tiap hari cuma ngeblog, tiada kerjaan, jadi pengangguran kelas keong. Online kaya orang dungu. STRES.<br />
Aku tercipta hanya untuk berkelahi dengan penyakit aneh ini. Pupus sudah semua mimpiku. Aku ingin jadi programmer handal. Aku ingin jadi orang sukses, kaya dan terkenal. SEMUA MIMPI! Tubuhku pelan2 HANCUR digeragoti kematian sel yang mengering. NAMPAK DUNGU di hadapan orang2 IDIOT!</p>
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		<slash:comments>1</slash:comments>
	
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			<media:title type="html">Admin</media:title>
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	</item>
		<item>
		<title>Bulan Ramadhan Aku Tak Mampu Merubah Apapun</title>
		<link>http://asaku20.wordpress.com/2010/08/27/bulan-ramadhan-aku-tak-mampu-merubah-apapun/</link>
		<comments>http://asaku20.wordpress.com/2010/08/27/bulan-ramadhan-aku-tak-mampu-merubah-apapun/#comments</comments>
		<pubDate>Fri, 27 Aug 2010 02:21:52 +0000</pubDate>
		<dc:creator>admin</dc:creator>
				<category><![CDATA[CATATAN HARIANKU]]></category>
		<category><![CDATA[catatan harian]]></category>
		<category><![CDATA[kulit hipersensitif]]></category>
		<category><![CDATA[masa depan]]></category>
		<category><![CDATA[polip]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/?p=153</guid>
		<description><![CDATA[Masih nganggur. Kulit kian keriput kekeringan dan mati tanpa regenerasi sel2 segar. Sensitivitas kulit yg sangat tinggi membuatku tak nyaman. Gigitan nyamuk walau seekor demikian menyiksaku. Rongga hidung masing disengat semacam polip yg menghambat ingus yg selalu terproduksi, yg masuk ke tenggorokan n bikin sesak nafas alias atsma&#8230;. Aku harus optimis, Allah Maha Kuasa, yang [...]<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=153&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Masih nganggur. Kulit kian keriput kekeringan dan mati tanpa regenerasi sel2 segar. Sensitivitas kulit yg sangat tinggi membuatku tak nyaman. Gigitan nyamuk walau seekor demikian menyiksaku. Rongga hidung masing disengat semacam polip yg menghambat ingus yg selalu terproduksi, yg masuk ke tenggorokan n bikin sesak nafas alias atsma&#8230;.</p>
<p>Aku harus optimis, Allah Maha Kuasa, yang dapat mengubah nasib seseorang dengan usaha atau keajaiban&#8230;</p>
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		<slash:comments>0</slash:comments>
	
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			<media:title type="html">djmjg01</media:title>
		</media:content>
	</item>
		<item>
		<title>Terapi urin seharian membuatku mengantuk</title>
		<link>http://asaku20.wordpress.com/2010/07/29/terapi-urin-seharian-membuatku-mengantuk/</link>
		<comments>http://asaku20.wordpress.com/2010/07/29/terapi-urin-seharian-membuatku-mengantuk/#comments</comments>
		<pubDate>Thu, 29 Jul 2010 02:31:23 +0000</pubDate>
		<dc:creator>Admin</dc:creator>
				<category><![CDATA[Uncategorized]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/2010/07/29/terapi-urin-seharian-membuatku-mengantuk/</guid>
		<description><![CDATA[Sudah 1 setengah hari terapi urin. Setiap kencing, kuminum. Ngantuk sekali. Padahal tidur cukup (+ 8 jam). Overdosiskah?<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=152&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Sudah 1 setengah hari terapi urin. Setiap kencing, kuminum. Ngantuk sekali. Padahal tidur cukup (+ 8 jam). Overdosiskah?</p>
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			<media:title type="html">Admin</media:title>
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		<item>
		<title>Pusi&#8230;ng</title>
		<link>http://asaku20.wordpress.com/2010/07/28/pusi-ng/</link>
		<comments>http://asaku20.wordpress.com/2010/07/28/pusi-ng/#comments</comments>
		<pubDate>Wed, 28 Jul 2010 09:27:24 +0000</pubDate>
		<dc:creator>Admin</dc:creator>
				<category><![CDATA[Uncategorized]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/2010/07/28/pusi-ng/</guid>
		<description><![CDATA[Sungguh membingungkan hdp di dunia ini. Semakin lama himpitan ekonomi dan tuntutan penyesuaian diri dg lingkungan n tekno kian berat. Takkan mampu diriku menanggung keluarga sementara aku menderita penyakit kelainan aneh. Kdg2 kuterlintas tuk mengakhiri hdp dgn suasana yg tenang n damai. Kupikirkan tentang hutan yg damai namun bila logika dipakai justru nyamuk<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=151&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Sungguh membingungkan hdp di dunia ini. Semakin lama himpitan ekonomi dan tuntutan penyesuaian diri dg lingkungan n tekno kian berat. Takkan mampu diriku menanggung keluarga sementara aku menderita penyakit kelainan aneh. Kdg2 kuterlintas tuk mengakhiri hdp dgn suasana yg tenang n damai. Kupikirkan <span id="more-151"></span> tentang hutan yg damai namun bila logika dipakai justru nyamuk</p>
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			<media:title type="html">Admin</media:title>
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		<item>
		<title>Malam Yg Menyiksa</title>
		<link>http://asaku20.wordpress.com/2010/04/15/malam-yg-menyiksa/</link>
		<comments>http://asaku20.wordpress.com/2010/04/15/malam-yg-menyiksa/#comments</comments>
		<pubDate>Wed, 14 Apr 2010 20:57:46 +0000</pubDate>
		<dc:creator>Admin</dc:creator>
				<category><![CDATA[CATATAN HARIANKU]]></category>
		<category><![CDATA[catatan harian]]></category>
		<category><![CDATA[darah macet]]></category>
		<category><![CDATA[insomnia]]></category>
		<category><![CDATA[kesemutan]]></category>
		<category><![CDATA[kulit kering]]></category>
		<category><![CDATA[polip]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/2010/04/15/malam-yg-menyiksa/</guid>
		<description><![CDATA[Seperti biasa, diriku mengalami sulit tidur stp malam. Terutama setelah mandi, pasti kulitku mengering luar biasa. Bila tidur, kulit/dagingku yang menekan pada kasur terasa perih dan panas, tubuhku kebas kesemutan mati rasa terasa kapalan. Belum lagi perih di rongga hidung akibat peningkatan sensitivitas pada membran mukosa akibat pengeringan tubuh yg aneh. sekian catatan hari ini.<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=148&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Seperti biasa, diriku mengalami sulit tidur stp malam. Terutama setelah mandi, pasti kulitku mengering luar biasa. Bila tidur, kulit/dagingku yang menekan pada kasur terasa perih dan panas, tubuhku kebas kesemutan mati rasa terasa kapalan. Belum lagi perih di rongga hidung akibat peningkatan sensitivitas pada membran mukosa akibat pengeringan tubuh yg aneh. sekian catatan hari ini.</p>
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		<slash:comments>0</slash:comments>
	
		<media:content url="" medium="image">
			<media:title type="html">Admin</media:title>
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		<item>
		<title>Link Penting</title>
		<link>http://asaku20.wordpress.com/2010/02/07/link-penting/</link>
		<comments>http://asaku20.wordpress.com/2010/02/07/link-penting/#comments</comments>
		<pubDate>Sun, 07 Feb 2010 01:26:26 +0000</pubDate>
		<dc:creator>Admin</dc:creator>
				<category><![CDATA[CATATAN HARIANKU]]></category>
		<category><![CDATA[accelerated aging diseases]]></category>
		<category><![CDATA[Cockayne's syndrome]]></category>
		<category><![CDATA[progeria]]></category>
		<category><![CDATA[Werner's syndrome]]></category>
		<category><![CDATA[xeroderma pigmentosumded]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/2010/02/07/link-penting/</guid>
		<description><![CDATA[Bahan bacaan lain: other &#8220;accelerated aging diseases&#8221; progeria, Werner&#8217;s syndrome, Cockayne&#8217;s syndrome, or xeroderma pigmentosumded klik sumbernya<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=112&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Bahan bacaan lain:<br />
other &#8220;accelerated aging diseases&#8221; progeria, Werner&#8217;s syndrome, Cockayne&#8217;s syndrome, or xeroderma pigmentosumded<br />
<a href="http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder">klik sumbernya</a></p>
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		<title>Sakit Pinggang Berat</title>
		<link>http://asaku20.wordpress.com/2010/02/06/sakit-pinggang-berat/</link>
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		<pubDate>Sat, 06 Feb 2010 04:06:14 +0000</pubDate>
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		<description><![CDATA[Beginilah setiap hari. Sakit punggung bwh yg konstan. Akibat pelemahan dan pengeringan otot dan menyusutnya lemak. Hrs tidur nih&#8230;<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=111&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Beginilah setiap hari. Sakit punggung bwh yg konstan. Akibat pelemahan dan pengeringan otot dan menyusutnya lemak. Hrs tidur nih&#8230;</p>
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		<title>Sebuah Titik Terang</title>
		<link>http://asaku20.wordpress.com/2010/02/05/sebuah-titik-terang/</link>
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		<pubDate>Fri, 05 Feb 2010 00:02:58 +0000</pubDate>
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				<category><![CDATA[CATATAN HARIANKU]]></category>
		<category><![CDATA[gejala lipodistrofi]]></category>
		<category><![CDATA[lipodistrofi]]></category>
		<category><![CDATA[secercah harapan]]></category>

		<guid isPermaLink="false">http://asaku20.wordpress.com/?p=107</guid>
		<description><![CDATA[Memang untuk hidup bersama penyakit aneh ini tak mudah. Aku mencari dan terus mencari titik terang apa penyebabnya dan bagaimana cara menanganinya sambil mengeluhi rasa perih konstan yang amat sangat mengganggu kualitas hidupku. Kemarin aku mendapat artikel tentang seorang anak di Inggris yang terkena lipodistrofi, yakni suatu kelainan gangguan tidak diproduksinya lemak bawah kulit akibat [...]<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=107&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Memang untuk hidup bersama penyakit aneh ini tak mudah. Aku mencari dan terus mencari titik terang apa penyebabnya dan bagaimana cara menanganinya sambil mengeluhi rasa perih konstan yang amat sangat mengganggu kualitas hidupku. Kemarin aku mendapat artikel tentang seorang anak di Inggris yang terkena lipodistrofi, yakni suatu kelainan gangguan tidak diproduksinya lemak bawah kulit akibat kelainan gen (lihat beberapa posting sebelum ini) yang berakibat pada kondisi kulitnya mirip nenek-nenek. Aku kemudian melakukan pencarian artikel tentang kelainan ini. Apakah aku mengalami hal yang serupa dengan gadis remaja tersebut? Berbagai logika yang tersusun didasarkan atas puluhan artikel yang kucopy dari internet memang mengarah pada kelainan genetik itu.<br />
Namun aku berpendapat bahwa lipodistrofi hanyalah gejala, atau komplikasi dari penyakit sumbernya yang belum jelas.<br />
Oleh karena itu aku akan berusaha mencari terus, dan mudah-mudahan dapat diupdate terus walau uangku kini kian kritis, sehingga mikir2 dulu buat beli pulsa. </p>
<p>&#8212;&#8211;Trah7&#8212;- </p>
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		<title>Zara Hartshorn A Girl With Lipodystrophy: Old Beyond Her Years by Amy Judd</title>
		<link>http://asaku20.wordpress.com/2010/02/03/zara-hartshorn-a-girl-with-lipodystrophy-old-beyond-her-years-by-amy-judd/</link>
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		<pubDate>Wed, 03 Feb 2010 14:34:04 +0000</pubDate>
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		<description><![CDATA[February 2, 2010 Zara Hartshorn is just 13-years-old, but she suffers from a rare genetic condition called Lipodystrophy so she looks old beyond her years. She has been called &#8216;grandma&#8217;, &#8216;monkey&#8217; and &#8216;baggy face&#8217; and the bullying got so bad that her mom had to pull her out of school. Even though she is only [...]<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=94&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>February 2, 2010</p>
<p>Zara Hartshorn is just 13-years-old, but she suffers from a rare genetic condition called Lipodystrophy so she looks old beyond her years. She has been called &#8216;grandma&#8217;, &#8216;monkey&#8217; and &#8216;baggy face&#8217; and <span id="more-94"></span>the bullying got so bad that her mom had to pull her out of school.<br />
Even though she is only 13, Lidopystrophy makes her look like she could be someone&#8217;s grandmother as her face is that of a grown woman, and wrinkled.<br />
&#8220;It feels like people are looking down their noses at me and staring,&#8221; she said at her home in northern England. &#8220;You know when you get that feeling you&#8217;re being watched? I feel that everywhere I go.&#8221;<br />
Source: abcnews.go.com</p>
<p>Zara&#8217;s mother Tracey was also born with Lipodystrophy and she knows what Zara is going through. She could tell Zara suffered from the disease when she was just a newborn:<br />
&#8220;I was grieving for a child that&#8217;s got to go through the same things in life that I&#8217;ve had to go through,&#8221; she said. &#8220;I was angry at myself for actually having Zara.&#8221;<br />
Source: abcnews.go.com</p>
<p>When someone suffers from Lipodystrophy the body cannot produce fat cells under the skin so the aging process is so much faster. There is no cure and due to the rapid aging it can bring about diabetes, stroke and liver problems.<br />
Zara is the strongest sufferer in her family. Three out of Tracey&#8217;s seven children suffers from Lipodsytrophy.<br />
When asked what she feels when she sees her own face in the mirror, Zara said, &#8220;I don&#8217;t like it. Sometimes I&#8217;ll sit in my room and start pulling my skin back, stuff like that. Most teenagers worry about getting spots&#8230;. I&#8217;m worried about surgery and stuff like that and when&#8217;s bullying going to stop.&#8221;<br />
Source: abcnews.go.com</p>
<p>Zara said that the thing she wants most is a face-lift, but her mother says surgery doesn&#8217;t help much.<br />
Tracey says that she fears Zara will end up like her, with a string of abusive relationships, no career and low self-esteem due to her condition.<br />
&#8220;I don&#8217;t want [Zara] ending up like me,&#8221; she said. &#8220;Surrounding herself with seven, eight or however many kids just to feel loved&#8230;. And she doesn&#8217;t need to go from one man to another looking for something she&#8217;ll never find.&#8221;<br />
Source: abcnews.go.com</p>
<p>Zara wants to be a beauty therapist when she is older; for now she is working on stepping outside her front door without people making fun of her.</p>
<p>http://my.nowpublic.com/comment/reply/2568360</p>
<p>Artikel ini dipergunakan untuk arsip riset penyakit yang mirip denganku. Maaf jika melanggar hak cipta.<br />
Mangkubumi Trah7</p>
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		<title>Arsipku: Definition of Lipodystrophy syndrome</title>
		<link>http://asaku20.wordpress.com/2010/02/03/arsipku-definition-of-lipodystrophy-syndrome/</link>
		<comments>http://asaku20.wordpress.com/2010/02/03/arsipku-definition-of-lipodystrophy-syndrome/#comments</comments>
		<pubDate>Wed, 03 Feb 2010 14:30:38 +0000</pubDate>
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				<category><![CDATA[ARSIPKU]]></category>
		<category><![CDATA[definisi lipodistrofi]]></category>
		<category><![CDATA[lipodystrophy definition]]></category>
		<category><![CDATA[lipodystrophy symptoms]]></category>

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		<description><![CDATA[Lipodystrophy syndrome: A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat and often the abnormal deposition and distribution of fat in the body. There are a number of different lipodystrophy syndromes. Some of them are present at birth (congenital) while others are acquired later. Some are genetic (inherited), others [...]<img alt="" border="0" src="http://stats.wordpress.com/b.gif?host=asaku20.wordpress.com&amp;blog=9405641&amp;post=95&amp;subd=asaku20&amp;ref=&amp;feed=1" width="1" height="1" />]]></description>
			<content:encoded><![CDATA[<p>Lipodystrophy syndrome: A disturbance of lipid (fat) metabolism that involves the partial or total absence of fat and often the abnormal deposition and distribution of fat in the body. <span id="more-95"></span>There are a number of different lipodystrophy syndromes. Some of them are present at birth (congenital) while others are acquired later. Some are genetic (inherited), others are not.<br />
One lipodystrophy syndrome appears associated with the protease inhibitor drugs used in the treatment of AIDS. In this lipodystrophy syndrome, the face, arms and legs become thin due to loss of subcutaneous fat. The skin becomes dry. The lips crack. Weight drops. Lawrence K. Altman in The New York Times observed that, &#8220;Veins stick out as cords, and although normal, may be mistaken for varicose veins. While fat disappears from some areas,&#8230;it redistributes to build up in others. The back of the neck (takes on fat and) resembles a buffalo hump. Breasts enlarge. A woman may have to buy a bra that is two sizes larger than the last one. The abdomen swells producing a sometimes painful pot belly that is dubbed &#8220;a protease paunch.&#8221; A woman may look pregnant when she is not. Exercise may not work it off.&#8221; How the protease inhibitors induce this lipodystrophy syndrome is unknown.<br />
&#8212;<br />
Lipodystrophy<br />
Lipodystrophy (also called &#8216;lipoatrophy&#8217;) usually infers loss of fat. The fat layer lies underneath the skin i.e. it is subcutaneous. Loss of subcutaneous fat leads to increased definition of the structures underneath (muscle and bone) and presents as one or more depressions in the skin. If all the underlying structures are affected, it is called &#8216;panatrophy&#8217;.<br />
Lipodystrophy may be congenital (i.e. the tendency to lose fat is present at birth) or acquired (the loss of fat occurs later in life). Lipodystrophy can affect all of the body (generalised lipodystrophy) or just parts of the body (partial lipodystrophy).<br />
The detailed classification of lipodystrophy is difficult.<br />
Acquired lipodystrophy<br />
This is the most common form. Types of acquired localised lipodystrophy include:<br />
Steroid injection<br />
A dent due to localised fat loss may appear at the site of<br />
corticosteroid<br />
injection. This can be avoided by making sure the injection is within muscle tissue and not in subcutaneous fat.<br />
Insulin injections</p>
<p>Diabetics<br />
may experience localised lipodystrophy at repeated injection sites.<br />
Other injections<br />
Lipodystrophy has been reported to follow injections with penicillin, iron, growth hormone, vaccines and acupuncture.<br />
Panniculitis</p>
<p>Panniculitis<br />
is the term used for inflammation of subcutaneous fat. It is sometimes followed by permanent loss of fat. Fat atrophy is particularly likely in<br />
lupus panniculitis<br />
(lupus profundus) and some forms of<br />
morphoea<br />
.<br />
Progressive hemifacial atrophy (Parry-Romberg syndrome)<br />
Progressive hemifacial atrophy is characterised by thinning of skin, fatty tissue and underlying bony structures of one side of the face. Onset is usually during childhood. The cause is unknown.<br />
Localised lipodystrophy</p>
<p>Atrophy due to steroid injection</p>
<p>Subcutaneous morphoea</p>
<p>Lupus panniculitis<br />
Generalised acquired lipodystrophies are rare. They include:<br />
Generalised lipodystrophy (Lawrence syndrome)<br />
Generalised lipodystrophy is a rare disorder with loss of fat during childhood and adolescence. Females are affected more often than males. It may occur following infections such as chicken pox, measles and whooping cough. Often it is associated with elevation of blood cholesterol and diabetes.<br />
Partial lipodystrophy (Barraquer-Simons syndrome)<br />
Partial lipodystrophy usually occurs around 10 years of age after a viral illness. Fat is lost from the face and trunk, but the legs and hips are spared. Fat may accumulate in the legs and hips in women. Females are affected three times more often than males. One third of patients develop kidney disease (membranoproliferative glomerulonephritis with hypocomplementaemia).<br />
Partial lipodystrophy is also associated with auto-immune disorders including systemic lupus erythematosus, hypothyroidism and<br />
rheumatoid<br />
arthritis<br />
.<br />
Lipodystrophy associated with human immunodeficiency virus<br />
This form of lipodystrophy is associated with longterm treatment with antiretroviral drugs (protease inhibitors and nucleoside reverse transcriptase inhibitors) and<br />
human immunodeficiency virus<br />
(HIV) may contribute. The exact mechanism is not known. Fat is lost from the face, arms, legs and buttocks. Fat may accumulate on the neck and upper back.<br />
In many cases of acquired lipodystrophy, the cause is unknown.<br />
Congenital lipodystrophy<br />
Congenital lipodystrophy can be generalised or partial. Recent advances have identified some genetic abnormalities.<br />
Generalised congenital lipodystrophy (Berardinelli-Seip syndrome)<br />
Generalised congenital lipodystrophy is a rare disorder with gene mutations of seipin or AGPAT2 gene. It is characterised by high levels of insulin (insulin resistance) and high levels of blood fats. It results in gigantism (acromegaly), enlarged liver and kidneys, pancreatitis,<br />
acanthosis nigricans<br />
and increased body hair<br />
(hypertrichosis)<br />
as well as generalised loss of body fat.<br />
Partial congenital lipodystrophy<br />
Familial partial lilpodystrophy is associated with<br />
metabolic syndrome<br />
(syndrome X) including hypertension, insulin resistance, diabetes and severe hypertriglyceridemia resulting in pancreatitis and premature coronary artery disease. Sometimes partial loss of fat results in other areas of fat enlarging to compensate.<br />
Familial partial lipodystrophy spares the face and is inherited as an autosomal dominant disorder (half of the children of an affected individual will also be affected). There are two subtypes:<br />
Type 1 (Kobberling syndrome), with fat loss from the extremities, and central obesity. It has only been reported in females.<br />
Type 2 (Dunnigan syndrome), with fat loss from the extremities, abdomen, and thorax. This is due to a mutation of lamin A/C gene or PPAR gamma gene (part of the nuclear membrane within the cell). Mutations in this gene can result in a variety of other rare diseases including muscular dystrophy, cardiomyopathy, neuropathy and (<br />
progeria<br />
and are collectively termed laminopathies.<br />
Other types of congenital partial lipodystrophy have also been described including SHORT syndrome and mandibulo-acral dysplasia.<br />
Treatment<br />
The treatment depends on the cause of the lipodystrophy. It can involve:<br />
Cosmetic procedures such as fat transfer (moving fat from one part of the body to another using<br />
flaps<br />
and<br />
grafts<br />
),<br />
injectable filers and implants</p>
<p>Managing diabetes and high cholesterol<br />
Altering HIV treatments<br />
Medication such as anabolic steroids.</p>
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