Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

Mendelian disorders with cutaneous manifestations comprise a genotypically
heterogeneous group of over 1,000 diseases, and in most of them mutant genes have been …

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - PMC Skip to main
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The extracellular matrix (ECM) is a complex network of proteins and proteoglycans secreted
by keratinocytes, fibroblasts and immune cells. The function of the skin ECM has expanded …

Epidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress
has been achieved in the development of molecular therapies in the last few decades. Such …

Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of
non‐syndromic Mendelian disorders of keratinization, is caused by mutations in as many as …

Epidermolysis bullosa (EB) is a group of rare genetic disorders that are characterized by
fragile skin. Because of its rarity, many neonatologists may not be familiar with the current …

Epidermolysis bullosa (EB), the paradigm of heritable skin fragility disorders, is associated
with mutations in as many as 20 distinct genes. One of the clinical variants, recessive …

Epidermolysis bullosa (EB) is a devastating genetic skin disease typified by a plethora of
different phenotypes and ranking from severe, early lethal, to mild localized forms. Although …

Background Discovering the genetic basis of inherited skin diseases is fundamental to
improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic …