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At a glance

A congenital lipoid storage disease with multiple tissue infiltrations producing waxiness and thickening of the skin and mucous membranes of the mouth, pharynx, larynx, and hypopharynx. It causes hoarseness and an inability to cry, often from birth. Intracranial calcifications selectively affect the amygdala resulting in abnormalities of fear processing, affect and cognition, anxiety, and memory. Clinically patients demonstrate grand mal epilepsy, attacks of rage, and mental retardation.

Synonyms

Cutaneomucous Proteinosis; Lipoproteinosis, Hyalinosis Cutis et Mucosae (French Appellation); Lipoid Proteinosis of Urbach and Wiethe; Rössle-Urbach-Wiethe Syndrome.

History

Genetic disorder first described in 1929 by Eric Urbach, an Austrian-American allergologist and dermatologist and Camillio Wiethe, an Austrian otologist.

Incidence

Very rare; 300 cases described in the literature. This syndrome is most often seen among people of Dutch or German descent and is rather frequent in South Africa. Both sexes are affected equally. The age of onset is in infancy.

Genetic inheritance

Autosomal recessive inheritance, caused by mutation in the extracellular matrix protein 1. Gene (ECM1) located on 1q21.

Pathophysiology

Not precisely known. An eosinophilic hyaline material is deposited in all affected organs. Controversy exists about the exact origin of the disease (caused primarily by lysosomal disease, abnormality of collagen metabolism, or lipid metabolism disorder).

Diagnosis

Clinically evocated by the association of early hoarseness with an unusual skin eruption. Skin biopsy may help confirm the diagnosis (eosinophilic hyaline thickening of papillary dermal capillaries, hyperkeratosis). The hyaline material stains positively with period acid-Schiff (PAS) and is diastase resistant.

Clinical aspects

All organs can be involved: skin (hyalinosis cutis et mucosae, recurrent vesicles, bullae, and hemorrhagic crusts around mucous membranes, papules, plaques, and nodules develop on the face, axillae, and scrotum; patchy area of alopecia, generalized hyperkeratosis can be seen), mouth and pharynx (early hoarseness, papular infiltration of tongue and frenulum, teeth hypoplasia more often lateral incisors and premolars, papular infiltration of larynx and vocal cords), eyes (itchy eyes, moniliform blepharitis), and central nervous system (seizures, memory impairment, paranoia rage attacks, intracranial calcifications).

Precautions before anesthesia

Evaluate neurological function (history, clinical, radiographs, CT/MRI, EEG) and intubation (clinical, radiographs, CT, fiberoptic).

Anesthetic considerations

When combined with mental retardation, the presence of occasional sudden attacks of rage can affect the preoperative period and induction of anesthesia. There is strong support for premedication and/or presence of parents for induction of anesthesia. Both direct laryngoscopy and tracheal intubation can be difficult because of larynx involvement and may require a smaller tube than predictable. Tracheal wall integrity should be assessed and spontaneous ventilation is preserved until airway is secured. Catheter fixation can be difficult because of skin ...

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