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Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
TLDR
Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal, with improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing and compound heterozygotes appear to have a survival advantage.
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
TLDR
These findings provide the first clinical indication of its relevance to skin adhesion, epidermal differentiation, wound healing, scarring, angiogenesis/angiopathy and basement membrane physiology, as well as defining the molecular basis of this inherited disorder.
A consensus approach to wound care in epidermolysis bullosa.
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
TLDR
This is the first study demonstrating that intradermal injections of allogeneic fibroblasts have therapeutic potential in human subjects with RDEB, and it is believed that this mutant protein may be partially functional and capable of increasing adhesion at the DEJ.
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
TLDR
It is shown that the laminin alpha3a N-terminal domain is a key regulator of the granulation tissue response, with important implications not only in LOC but in a range of other clinical conditions associated with abnormal wound healing.
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