Clinical Medical Image Library Clin Med Img Lib 10.23937/2474-3682 2474-3682 ClinMed International Library Wilmington, USA 10.23937 Vitamin-K Dependent Protein Deficiency and Pseudoxanthoma Elasticum Kumar M 10.23937/2474-3682/1510147 Clinical examination showed loose skin folds of axilla, anterior abdominal wall and chest which were suggestive of Pseudoxanthoma Elasticum. Rest systemic examinations WNL. Patient has similar family history. Image Article 6 3 OPEN ACCESS 10.23937/2474-3682/1510147 Vitamin-K Dependent Protein Deficiency and Pseudoxanthoma Elasticum Manish Kumar Department of Critical Care Medicine, Oman Manish Kumar
Department of Critical Care Medicine, Oman.
25 July 2020 Kumar M 2020 Vitamin-K Dependent Protein Deficiency and Pseudoxanthoma Elasticum Clin Med Img Lib 10.23937/2377-4630/1410102 2020 Kumar M, et al. © This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

27-year-old male referred from Dental clinic, due to asymptomatic incidental abnormal coagulation parameters.

Clinical examination showed loose skin folds of axilla, anterior abdominal wall and chest which were suggestive of Pseudoxanthoma Elasticum. Rest systemic examinations WNL. Patient has similar family history.

Coagulation profile showed PT-46 seconds, (control 12.50), INR 4.64 seconds, APTT 61.30 seconds (control 23.80), Mixing Studies-PT 13.8 seconds, PTT-29.7 Seconds.

Factor-VII-12.00%, Factor-Xlll-113.10U/DL, Factor-V-73.00 seconds, Factor-IX-21 seconds, Rest laboratory tests were normal. Patient was diagnosed with multiple coagulation factor deficiency Figure 1 and Figure 2.

There is a known association of VKDPD and Pseudoxanthoma Elasticum due to Gamma Glutamyl Carboxylase (GGCX) mutation.

This patient has Gamma Glutamyl Carboxylase (GGCX) mutation which led to VKDPD & PXE!

If he bleeds, needs factor replacement with a PPC (4-Factor), not Vitamin-K. No need for prophylactic treatment as he is not bleeding phenotype.

Patient was diagnosed with multiple coagulation factor deficiency. https://www.clinmedjournals.org/articles/cmil/cmil-6-147-001.jpg Patient was diagnosed with multiple coagulation factor deficiency. https://www.clinmedjournals.org/articles/cmil/cmil-6-147-002.jpg