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. No visceral symptoms
or signs are present. Associated disorders usually consist of grand mal
epilepsy, attacks of rage, and mental retardation.
Cutaneomucous Proteinosis; Lipoproteinosis, Hyalinosis
Cutis et Mucosae; Lipoid Proteinosis of Urbach and Wiethe;
Genetic disorder first described in 1929 by Eric Urbach,
an Austrian-American allergologist and dermatologist and Camillio Wiethe,
an Austrian otologist.
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
Autosomal recessive inheritance, caused by
mutation in the extracellular matrix protein 1. Gene (ECM1) located on 1q21.
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).
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.
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
Evaluate neurological function
(history, clinical, radiographs, CT/MRI, EEG) and intubation (clinical,
radiographs, CT, fiberoptic).
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 preserved
until airway is secured. Catheter fixation can be difficult because of skin
Muscle relaxants should be avoided
until airway is secured. Consider interaction between anticonvulsant
medications and anesthetic drugs.
Hamada T, McLean WHI, Ramsay M, et al: Lipoid proteinosis maps to 1q21
and is caused by mutations in the extracellular matrix protein 1 gene
(ECM1). Hum Mol Genet
Kelly JE, Simpson MT, Jonathan D, et ...