/vascular hyalinosis

vascular hyalinosis

Rare Disease

MONDO:0010177

Also Known As

Rambaud-Gallian syndromeRambaud-Gallian-Touchard syndromeretinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndromeretinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndromevascular hyalinosisdigestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischaemic syndrome and phenotypic adigestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a

Definition

A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage.