A clinical case of Urbach-Wiethe disease

A clinical description of Urbach – Wiethe disease (lipoid proteinosis), an extremely rare pathology, is presented, currently only 300 cases are known. This hereditary disease, transmitted by an autosomal recessive type, is associated with a mutation of the extracellular matrix 1 (ECM1) gene located on chromosome 1, locus 1q21. It is based on a violation of collagen synthesis and deposition of hyaline in the dermis along the collagen fibers, in the mucous membranes, sometimes in the internal organs. The chemical composition of hyaline is not completely determined; it is noted that it includes collagen, glycoproteins, lipids, proteoglycans. The disease begins in early childhood and is characterized by changes in the ENT organs and skin, confirmed by histological examination, which reveals thickening of the dermis, degeneration of collagen fibers, hyalinosis with deposition around the vessels, in their walls, around the sweat glands of ribbon-like, weakly eosinophilic, homogeneous substances, which include phospholipids, sometimes there may be cracks with deposition of lipids.

Patient V., born in 1990, the disease began almost from birth with the appearance of polymorphic rashes on the skin and hoarseness of the voice. In 1999, a histological examination of the affected skin was performed, confirming the diagnosis of lipoid proteinosis of Urbach – Wiethe. The skin pathological process is widespread, symmetrical, on the face it is represented by reticulated telangiectatic erythema, along the edge of the lower eyelids there are miliary nodules similar to a string of pearls. Hypoplasia and stagnant erythema of the auricles are determined. There are yellowish lenticular papules on the trunk and limbs, waxy translucent plaques of a dense consistency in the area of the extensor surface of the elbow joints. Besides, secondary hyperpigmentation and foci of atrophy were detected on the face, trunk and limbs. Skin changes are accompanied by lesion of the ENT organs in the form of bilateral maxillary sinusitis, frontitis, chronic pharyngitis, chronic laryngitis. Concomitant pathology is important: polyvalent sensitization, chronic hepatitis B, biliary dyskinesia against the background of gallbladder deformation, chronic gastroduodenitis. The patient has been on disability since 2000, needs dispensary supervision and correction of all identified violations.