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Epidermolisis bulosa tipe distrofik resesif dengan gizi buruk tipe marasmus pada seorang anak laki-laki: sebuah laporan kasus

  • Made Hermina Laksmi ,
  • Ni Luh Putu Ratih Vibriyanti Karna ,
  • Herman Saputra ,
  • Aurelia Stephanie ,
  • Putu Gde Hariwangsa ,


Abstract

Background: Epidermolysis bullosa (EB) is characteristized of epithelial cell adhesion disorders that cause skin fragility and bullae after minor trauma or friction. EB Classification is based on the skin's morphological appearance and the degree to which The following reports a case of recessive dystrophic bullous epidermolysis with marasmus type malnutrition 

Case Report: An 8-year-old man, with complaints of wounds almost all over his body, initially in the form of bubbles filled with fluid which then burst into sores and over time, the bullae spread almost all over the body and oral mucosa. The patient has difficulty eating because of the frequent appearance of sores, so he becomes malnourished with the type of marasmus. The type of ED is inherited in an autosomal recessive manner. Since the age of 4 years, the patient's teeth began to decay, and the patient's fingers and toes were pseudosyndactyly. Histopathological examination results support severe generalized dystrophic recessive type EB (Hallopeau-Siemens). The patient treats with a compress of 0.9% NaCl for 10-15 minutes every 8 hours topically on erosional lesions, giving Petroleum jelly every 12 hours on the whole body, treating the wound using tulle, and then covering it with gauze every 24 hours, providing clinical improvement. 

Conclusion: Epidermolysis bullosa (EB) can be inherited in an autosomal recessive manner. Complaints of the fragility of the skin already appear at the age of children. Nutritional disorders are a problem that strengthens the condition of EB patients. Multidisciplinary management is needed to provide a good outcome.

 

Latar Belakang: Epidermolysis bullosa (EB) memiliki karakteristik gangguan adhesi sel epitel yang menyebabkan kerapuhan pada kulit dan bula setelah terkena trauma atau gesekan ringan. Berikut dilaporkan satu kasus epidermolisis bulosa distrofik resesif dengan gizi buruk tipe marasmus

Laporan Kasus: Laki- laki usia 8 tahun, dengan keluhan adanya luka hampir pada seluruh tubuh, berbentuk awal berupa gelembung berisi cairan yang kemudian pecah menjadi luka dan seiring jalannya waktu bula menyebar hampir seluruh tubuh hingga bagian mukosa mulut. Pasien mengalami kesulitan makan karena sering muncul luka sehingga menjadi gizi buruk dengan tipe marasmus. Tipe ED diturunkan secara autosomal resesif. Sejak usia 4 tahun gigi pasien mulai keropos, jari tangan dan jari kaki pasien pseudosyndactyly. Hasil pemeriksaan histopatologi menunjang gambaran epidermolisis bulosa. Pasien mengarah pada EB tipe resesif distrofik generalisata berat (Hallopeau-Siemens). Penatalaksanaan berupa kompres terbuka NaCl 0.9% selama 10-15 menit tiap 8 jam topikal pada lesi erosi, pemberian Petroleum jelly tiap 12 jam pada seluruh tubuh, rawat luka menggunakan tulle kemudian ditutup dengan kasa tiap 24 jam memberikan perbaikan klinis

Simpulan: Epidermolysis bullosa dapat diturunkan secara autosomal resesif. Keluhan kerapuhan pada kulit sudah tampak pada usia anak-anak. Gangguan nutrisi menjadi permasalahan yang mempererat keadaan penderita EB. Tatalaksana multidisiplin diperlukan untuk memberikan luaran yang baik

Keywords: Epidermolysis bullosa (EB) Gizi buruk marasmus

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How to Cite

Laksmi, M. H., Karna, N. L. P. R. V., Saputra, H., Stephanie, A., & Hariwangsa, P. G. (2022). Epidermolisis bulosa tipe distrofik resesif dengan gizi buruk tipe marasmus pada seorang anak laki-laki: sebuah laporan kasus . Intisari Sains Medis, 13(2), 543–548. https://doi.org/10.15562/ism.v13i2.1490
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Made Hermina Laksmi
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Ni Luh Putu Ratih Vibriyanti Karna
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Herman Saputra
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Aurelia Stephanie
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Putu Gde Hariwangsa
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