Urbach–Wiethe disease

Urbach–Wiethe disease, or lipoid proteinosis, is a rare inherited disorder in which hyaline material accumulates in the skin, mucous membranes, and other tissues.

ECM1: ECM1 is a gene encoding extracellular matrix protein 1, a protein involved in skin and basement-membrane biology. Loss-of-function variants in this gene cause Urbach–Wiethe disease.
Hoarseness: Hoarseness is an abnormal rough or strained quality of the voice. Early hoarseness often results from deposits affecting the larynx.
Erich Urbach: Erich Urbach was an Austrian dermatologist who studied skin diseases and described lipoid proteinosis. His name forms the first part of the disease’s eponym.
Laryngeal disease: Laryngeal disease comprises disorders affecting the larynx, the organ involved in voice production and airway protection. Hyaline deposits in the larynx can cause persistent hoarseness and airway symptoms.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a person receives disease-causing variants in both copies of an autosomal gene. The disorder typically develops when both inherited copies of ECM1 are affected.
Moniliform blepharosis: Moniliform blepharosis is a beaded thickening of the eyelid margins caused by papules. This characteristic eyelid finding can strongly suggest the disease.
Camillo Wiethe: Camillo Wiethe was an Austrian otolaryngologist who co-described lipoid proteinosis. His name forms the second part of the disease’s eponym.
Skin lesion: A skin lesion is an area of tissue with an abnormal appearance or structure. Papules, thickening, and scarring are visible consequences of deposits in the skin.
Hyalinosis: Hyalinosis is the accumulation of glassy, hyaline material in tissues. It names the tissue-deposition process that defines the disease.
Skin biopsy: A skin biopsy is the removal of a small tissue sample for microscopic examination. Microscopy can reveal the hyaline deposits characteristic of lipoid proteinosis.

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