Infantile systemic hyalinosis presenting as intractable infantile diarrhea.
Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.
Al-Mubarak
Luluah
L
Division of Dermatology, Department of Medicine, King Fahad National Guard Hospital, P.O. Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. dr.almubarak@hotmail.com
Al-Makadma
Abdulkarim
A
Al-Khenaizan
Sultan
S
D001847:Bone Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003286:Contracture / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003937:Diagnosis, Differential; D003968:Diarrhea, Infantile / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D006818:Hyalin; D007223:Infant; D008297:Male; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000150:complications / Q000175:diagnosis* / Q000473:pathology