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.
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
Luluah
L
Al-Mubarak
Abdulkarim
A
Al-Makadma
Sultan
S
Al-Khenaizan
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