European Journal of Dermatology
MENUInfantile systemic hyalinosis: a report of two new cases, one with prolonged survival Volume 27, numéro 3, May-June 2017
Illustrations
- DOI : 10.1684/ejd.2017.3007
- Page(s) : 328-9
- Année de parution : 2017
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder that involves accumulation of hyaline in the skin and internal organs [1, 2].Our first patient was a three-month-old girl, admitted to Cayenne Hospital, for stiffness and distortion of the limbs. At one week of age, a painful functional disability was noticed. Both passive and active movements of the limbs were restricted and painful (figure 1A). At five months, she was transferred to Robert Debré Hospital in Paris, [...]