<unk>  (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with fewer than 300 reported cases since its discovery.:537  It was first officially reported in 1929 by Erich<unk>  and Camillo<unk> , although cases may be recognized dating back as early as 1908.
The symptoms of the disease vary greatly from individual to individual.  They may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids.  All of these are results of a general thickening of the skin and mucous membranes. In some cases there is also a hardening of brain tissue in the medial temporal lobes, which can lead to epilepsy and neuropsychiatric abnormalities.  The disease is typically not life threatening and patients do not show a decreased life span.
Because<unk>  is an autosomal recessive condition, individuals can be carriers of the disease but show no symptoms.   The disease is caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. 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.<unk>  is typically diagnosed by its clinical dermatological manifestations, particularly the beaded papules on the eyelids.  The discovery of the mutations within the ECM1 gene has allowed the use of genetic testing to confirm an initial clinical diagnosis.  Periodic acid-Schiff (PAS) and immunohistochemical staining may also be used for diagnosis.
Currently, there is no cure for<unk>  although there are ways to individually treat many of its symptoms. The discovery of the mutations of the ECM1 gene has opened the possibility of gene therapy or a recombinant ECM1 protein for<unk>  treatment, but neither of these options is currently available.   Some researchers are examining patients with<unk>  to learn more about other conditions that exhibit similar neurological symptoms, such as autism.
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