Catalog

Lipoid proteinosis

No MMS code

Link to WHO Definition

Lipoid proteinosis – http://id.who.int/icd/entity/326368380

Lipoid proteinosis (LiP), also known as 'hyalinosis cutis et mucosae' or 'Urbach-Wiethe disease' is an autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneform scars, along with infiltration and thickening of the skin and certain mucous membranes due to deposition of hyaline-like material and disruption/reduplication of the basement membrane around blood vessels and at the dermal-epidermal junction.