Lipoid proteinosis

Öz

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions of the body, including skin, mucous membranes, brain, internal organs. LP is caused by mutations in the gene encoding the extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease is rare, it is more reported in areas where consanguineous marriages are common. During the infancy, it begins with hoarseness due to laryngeal infiltration. Gradually, skin and mucous changes become clinically evident. The affected individuals have a normal survey unless laryngeal obstruction develops. A multidisciplinary approach is recommended for monitoring these patients.

Anahtar Kelimeler

• ECM1
• Lipoid Proteinosis
• Moniliform Blepharosis

Lipoid proteinozis

Öz

Lipoid proteinozis (LP) deri, muköz membranlar, beyin, iç organlar dahil olmak üzere vücudun çeşitli bölgelerinde, amorf bir hiyalin materyalin birikmesi ile karakterize, nadir görülen otozomal resesif bir genodermatozdur. LP kromozom 1q21’de bulunan ekstraselüler matriks proteini 1 (ECM1)’i kodlayan gendeki mutasyonlardan kaynaklanır. Bu hastalık nadir görülmekle birlikte ülkemizde özellikle akraba evliliklerinin sık olduğu bölgelerde daha fazla bildirilmeye başlanmıştır. Bebeklik döneminde laringeal infiltrasyona bağlı boğuk bir ağlama ile başlar. Zamanla deri ve mukoza değişiklikleri klinik olarak belirgin hale gelir. Etkilenen bireyler, laringeal obstrüksiyon yaşamadıkça normal bir yaşam süresine sahiptir. Bu hastaların takibi için multidisipliner bir yaklaşım önerilmektedir.

Anahtar Kelimeler

• ECM1
• lipoid proteinozis
• moniliform blepharosis

Kaynakça

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