Infantile Systemic Hyalinosis: A Case Report


Gunduz O., Evans S. E. , Boduroglu K., Alanay Y., Ozkaya Ö.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.43, ss.112-115, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 43 Konu: 3
  • Basım Tarihi: 2009
  • Dergi Adı: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Sayfa Sayıları: ss.112-115

Özet

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. (Turkderm 2009; 43: 112-5)