Lipoid Proteinosis: A Case Report

L ipoid proteinosis (LP), also known as Urbach-Wiethe disease or Hyalinosis cutis et mucosae, is a rare autosomal recessive disorder.It is characterized by hoarseness from early infancy, along with various skin manifestations such as acneiform scarring, waxy papules, eyelid papules (moniliform blepharosis), and more.Additionally, non-cutaneous manifestations occur due to the infiltration of hyaline-like material in the skin, larynx, and multiple internal organs [1] .In various parts of the body, there is extracellular and perivascular deposition of hyaline material that stains positive with periodic acid-Schiff (PAS) [2] .LP is a genetic disease, and diagnosis can be established on the basis of characteristic clinical symptoms, confirmed by histopathology. Case ReportA 28-year-old male patient presented to us with complaints of stiffening on the palms and soles, along with rashes on the oral mucosa and the body.The patient had experienced skin symptoms for a long time.In the following years, he developed oral and cutaneous lesions.On dermatological examination, the patient had edema and infiltration on the lower lip, macroglossia, and nodular infiltration on the tongue (Fig. 1a-1b).Bilateral yellowish papules, measuring 2-3 mm in diameter, were observed in a linear distribution along the eyelid margin (Fig. 2b).On the face and scalp, acneiform scars were concentrated in the frontal and temporal regions (Fig. 2a-2c).Bilateral hyperpigmented verrucous plaques Lipoid proteinosis (LP), also referred to as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive storage disorder.It is characterized by the deposition of amorphous hyaline material in the mucous membranes, skin, brain, and internal organs.The symptoms of lipoid proteinosis are variable but typically begin with hoarseness in the newborn period.Skin-related symptoms usually appear during childhood and include acneiform scars, wart-like papules, and plaques.The clinical presentation of this condition varies between individuals, which can make diagnosis difficult and often requires a detailed dermatological examination.