Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.

Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype. This novel patient-specific cell line enables in-depth pathophysiological studies of vEDS.

[Scaling skin in infancy]. / Schuppende Hautveränderungen im Säuglingsalter.

An infant was admitted to the neonatal intensive care unit due to a noticeable desquamation of the skin in the groin, extremities and axillary regions. In addition to the desquamation the baby had a collodion membrane. Microbiological swabs taken of the affected areas, however, did not show any microbial growth. Even in the molecular analysis, no common mutation for congenital ichthyoses could be found. The self-healing collodion baby (SHCB) is one subtype of autosomal recessive inherited ichthyoses. In mild courses watchful waiting and a moisturizing cream is justified.