Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* Wrinkling of the skin over the face | * Wrinkling of the skin over the face | ||
* Delayed wound healing | * Delayed wound healing | ||
===Physical examination=== | ===Physical examination=== | ||
====Appearance of the patient==== | ====Appearance of the patient==== | ||
Patients with this disease are short statured with an aged appearance. | Patients with this disease are short statured with an aged appearance. | ||
====Skin==== | ====Skin==== | ||
* Loose but elastic skin | * Loose but elastic skin | ||
* Scanty scalp hair | * Scanty scalp hair | ||
Revision as of 14:50, 27 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Ehler's Danlos syndrome - progeroid form
Overview
Xylosylprotein 4-beta-galactosyltransferase deficiency is a variant of Ehlers-Danlos syndrome
Pathophysiology
This disease is caused by mutation in the gene encoding xylosylprotein 4-beta-galactosyltransferase, which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain, leading to defective synthesis of proteodermatan sulfate (PDS) .
Diagnosis
Symptoms
- Wrinkling of the skin over the face
- Delayed wound healing
Physical examination
Appearance of the patient
Patients with this disease are short statured with an aged appearance.
Skin
- Loose but elastic skin
- Scanty scalp hair