Infantile systemic hyalinosis: A case report

Objective & Hypothesis:Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin.

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Key Findings & Data:It is characterised by painful joint contractures, gingival hypertrophy, generalized osteopenia, small pearly papules on the head, flesh nodules in the perianal region, and usually thickened skin.

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Conclusion & Impact:Herein, we report an 8-month-old boy who is diagnosed with ISH with the characteristic clinical presentation and histopathological findings.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin. It is characterised by painful joint contractures, gingival hypertrophy, generalized osteopenia, small pearly papules on the head, flesh nodules in the perianal region, and usually thickened skin. The onset occurs within the first few weeks of life and death occurs by two years of age as a result of recurrent pulmonary infections and diarrhea. Unfortunately, treatment is primarily palliative as there is no cure currently available. Herein, we report an 8-month-old boy who is diagnosed with ISH with the characteristic clinical presentation and histopathological findings.

Özet

İnfantil sistemik hyalinozis (İSH), deri ve pek çok organ sisteminde hyalin birikiminin görüldüğü, nadir, otozomal resesif geçişli bir hastalıktır. Ağrılı eklem kontraktürleri, gingival hipertrofi, yaygın osteopeni, baş-boyun bölgesine yerleşen parlak şeffaf küçük papüller, perianal bölge yerleşimli nodüller ve genellikle kalınlaşmış deri ile karakterizedir. Bulgular hayatın ilk birkaç haftasından itibaren görülür ve hastalar genellikle 2 yıl içinde sık tekrarlayan akciğer enfeksiyonları veya diyare nedeniyle kaybedilir. Şu an için sadece palyatif tedaviler uygulanabilmektedir. Bu yazıda tipik klinik ve histopatolojik bulgularla İSH tanısı konulan 8 aylık erkek hasta bildirilmektedir.

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Cite This Article

ÖZKAYA, Ö., ALANAY, Y., BODUROĞLU, K., EVANS, S. E., GÜNDÜZ, Ö. (2022). Infantile systemic hyalinosis: A case report. Türkderm-Deri Hastalıkları ve Frengi Arşivi, Cilt: 43 - Sayı: 3, 112–115. https://ajindex.com/articles/622074

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