Researchers have mapped<unk>  to chromosome 1 at 1q21 and specifically identified the extracellular matrix protein 1 (ECM1) gene as the gene containing mutations that can lead to the development of the condition. At this point, 41 different mutations within ECM1 have been reported to lead to<unk> . These were all homozygous loss-of-function mutations (i.e. nonsense, frameshift or internal deletions). It is an autosomal recessive condition, requiring two mutated copies of the ECM1 gene to cause the<unk> . ECM1 codes for a glycoprotein of previously unknown origin. The discovery that the loss of ECM1 expression leads to the symptoms associated with<unk>  suggests that ECM1 may contribute to skin adhesion, epidermal differentiation, and wound healing and scarring. It is also thought to play a role in endochondral bone formation, tumor biology, endothelial cell proliferation and blood vessel formation. The dermatological symptoms are caused by a buildup of a hyaline material in the dermis and the thickening of the basement membranes in the skin. The nature of this material is unknown, but researchers have suggested that it may be a glycoprotein, a glycolipid, an acid mucopolysaccharide, altered collagen or elastic tissue.
Urbach–Wiethe disease
Brill–Zinsser disease
Koolen–De Vries syndrome
Camurati–Engelmann disease
DeSanto-Shinawi syndrome
Fox–Fordyce disease
Barakat-Perenthaler syndrome
Pelger–Huët anomaly