Geroderma Osteodysplasticum Associated with Severe Factor V Deficiency in a Pediatric Patient: A Case Report
R. Acharafi *
Dysmorphology Unit, Department of Pediatrics P2, Children’s Hospital, University Hospital Center (CHU) Rabat, Morocco.
S. Sabbar
Dysmorphology Unit, Department of Pediatrics P2, Children’s Hospital, University Hospital Center (CHU) Rabat, Morocco.
A. Baaziz
Dysmorphology Unit, Department of Pediatrics P2, Children’s Hospital, University Hospital Center (CHU) Rabat, Morocco.
A. Mdaghri Alaoui
Dysmorphology Unit, Department of Pediatrics P2, Children’s Hospital, University Hospital Center (CHU) Rabat, Morocco.
*Author to whom correspondence should be addressed.
Abstract
Background: Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder caused by variants in GORAB (golgin, RAB6 interacting), located on chromosome 1q24.2. The phenotype may mimic Ehlers–Danlos syndrome (EDS) or hereditary cutis laxa.
Case Presentation: We report a school-aged girl born to consanguineous parents with marked skin laxity, peripheral joint hyperlaxity, and thoracic vertebral wedging (T5 and T7). Hemostasis testing showed severe factor V activity <1% with preserved factor X activity. Clinical exome sequencing identified a homozygous truncating GORAB variant (NM_152281.3: c.79C>T; p. Arg27*), confirming geroderma osteodysplasticum.
Conclusion: This case expands the clinical spectrum of geroderma osteodysplasticum by documenting an association with severe factor V deficiency. It highlights the diagnostic value of genomic testing in EDS-like phenotypes, particularly with consanguinity, and the importance of early hemostasis assessment to anticipate bleeding risk and guide peri-procedural management in pediatrics.
Keywords: Geroderma osteodysplasticum, GORAB, cutis laxa, joint hyperlaxity, vertebral compression, factor V deficiency, hemostasis, pediatrics