A study was conducted to analyze the multifactorial genetic inheritance pattern in prurigo Hebra (PH). Fiftyprobands (PH patients) consisting of 11 males and 39 females, with age ranged from 5-30 years were included in this study.A three-generation family tree was obtained from each subject, from which a total of 79 families were eligible for analysis. Foreach family the possible mode of inheritance, namely autosomal dominant (AD) or autosomal recessive (AR), was predicted.The families were then grouped according to the mode of inheritance. Analysis was conducted using Chi-square test,comparing the observed occurrence of PH and the expected value for each mode. To rule out mutation, the second methodwas applied, which only families with more than one affected child were analyzed, was used. The genetic inheritancepattern was not consistently compatible either with AR or AD. This finding, and other supporting facts, such as femalepreponderace, the role of HLA and the lower morbidity rate compared to the expected rate in AR or AD mode, indicated thatthe genetic inheritance of PH follows a multi-factorial pattern.
AbstrakAbstrak Abstrak Abstrak Abstrak. . . . . Seorang anak perempuan, usia 3 tahun dengan keluhan kulit yang mengelupas terus menerus (rujukan dari bagian kulit dan kelamin, untuk mengevaluasi adakah kelainan metabolik bawaan). Adanya riwayat bayi lahir dengan kulit terbungkus plastik, mengkilap, transparan disertai kelainan bentuk daun telinga yang kecil dan kelopak mata terangkat keatas. Tidak terdapat konsanguitas dalam keluarga. Kulit pada seluruh tubuh mengelupas secara kontinyu, gatal dan berbau tidak sedap. Luka/ lecet akibat bekas garukan pada kulit sehingga terbentuk jaringan parut tebal dan berakibat terjadinya kontraktur pada jarijari tangan. Pada pemeriksaan fisis ditemukan kulit kepala yang tebal berkeropeng, ektropion, alopesia sikatrik dengan bentuk mulut normal. Pada kedua telinga didapatkan hipoplasi kartilago aurikula. Pada kulit tampak skuama kasar, lebar, berwarna kecoklatan dengan eritroderma ringan. Pemeriksaan laboratorium didapatkan hemoglobin 11,4 g/dL, leukosit 10.100/μL, tombosit 431.000/μL. Biopsi kulit didapatkan hiperkeratosis, sumbatan keratin, akantosis dan papilomatosis ringan disertai pelebaran pembuluh darah dan serbukan sel radang ringan pada dermis. Ikltiosis lamelar adalah genodermatosis yang biasanya diturunkan secara resesif autosomal, adanya konsanguitas meningkatkan risiko terjadinya kasus ini.. Anamnesis dan penilaian klinis sangat penting dalam menegakkan diagnosis tetapi diagnosis pasti ditegakkan berdasarkan biopsi kulit (Sari Pediatri 2007; 9(10):32-38).Kata kunci Kata kunci Kata kunci Kata kunci Kata kunci: iktiosis lamelar, bayi kolodion, autosomal resesif genodermatosis.
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