John Libbey Eurotext

European Journal of Dermatology

Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival Volume 27, issue 3, May-June 2017

Figures

  • Figure 1
Authors
1 Paediatric Unit,
Cayenne Hospital, BP 6006,
97306 Cayenne Cedex,
French Guiana
2 Paediatric Unit,
Taaone Hospital, BP 1640-98713 PAPEETE,
French Polynesia
3 Neonatology Unit,
Taaone Hospital, BP 1640-98713 PAPEETE,
French Polynesia
4 Department of Genetics,
Robert Debré Hospital,
48 bd Sérurier- 75019 Paris,
France

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, [...]