Lethal Acantholytic Epidermolysis Bullosa
Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). It is recognized as a distinct form of…
Ectodermal Dysplasia-Skin Fragility Syndrome
Pathogenic mutations have now been described in ten different desmosomal proteins: plakophilin 1 (PKP1) and 2 (PKP2); desmoplakin; plakoglobin; desmoglein 1, 2, and 4; desmocollin 2, and 3 corneodesmosin. Nevertheless,…
Kindler Syndrome Pathogenesis and Fermitin Family Homologue 1 (Kindlin-1) Function
Kindler syndrome is caused by genetic defects in the focal contact–associated protein, fermitin family homologue 1 (FFH1), encoded by the gene FERMT1 (known as KIND1). Defects in FFH1 lead to…
Kindler Syndrome
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome….
Dystrophic Epidermolysis Bullosa: Pathogenesis and Clinical Features
Dystrophic epidermolysis bullosa (DEB) is relatively well understood. Potential therapies are in development. This article describes the pathogenesis and clinical features of DEB. It also describes therapeutic options and the…
Type VII Collagen: The Anchoring Fibril Protein at Fault in Dystrophic Epidermolysis Bullosa
Type VII collagen is a major component of the anchoring fibrils of the dermal-epidermal adhesion on the dermal side at the lamina densa/papillary dermis interface. Dystrophic epidermolysis bullosa (DEB) emerged…
Laryngo-onycho-cutaneous Syndrome
Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the…
Adhesion and Migration, the Diverse Functions of the Laminin α3 Subunit
The laminins are a secreted family of heterotrimeric molecules essential for basement membrane formation, structure, and function. It is now well established that the α3 subunit of laminins-332, -321, and…
Non-Herlitz Junctional Epidermolysis Bullosa
Non-Herlitz junctional epidermolysis bullosa (nH JEB) is characterized by generalized blisters that predominate in sites exposed to friction, trauma, or heat. Whereas infants and children with nH JEB often appear…
Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare form of EB. This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the…
