Hyalinosis cutis et mucosae E78.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 24.01.2021

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Synonym(s)

lipoidosis cutis et mucosae; lipoid proteinosis; Lipoid proteinosis; Lipoid proteinosis Urbach-Wiethe; lipoproteinosis; Roessle-Urbach-Wiethe Syndrome; Urbach-Wiethe-disease; Urbach-Wiethe Syndrome

History
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Siebenmann, 1908; Wiethe, 1924; Urbach, 1933

Definition
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Rare, autosomal recessive genodermatosis characterized by deposition of hyaline and lipid-containing substances on the basal laminae of skin and mucous membranes. In the course of the disease, cerebral and cutaneous vessels may be affected.

Occurrence/Epidemiology
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Increased occurrence in South Africa (here mainly among immigrants of German origin). Central Europe with focus on Germany and Austria, Asians

Etiopathogenesis
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Autosomal recessive inherited defect of the ECM1 gene (gene locus: 1q21) with consecutive disruption of extracellular protein 1 (extracellular matrix protein-1). Pathogenetically, the hyaline material appears to be caused by protein leakage from the vessels and by secretion performance of fibroblasts as well as secondary lipid deposits. The deposits contain basement membrane components and collagen types III, IV and V.

Manifestation
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Age at diagnosis: infancy or early childhood (1-3 years). Initial symptoms = hoarseness.

Localization
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Face, edge of upper and lower eyelids, lips, on the edges of the fingers, elbows, knees and in the armpits.

Clinical features
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Initial symptoms:

  • First symptom is often (an inexplicable) hoarseness (deposits of hyaline material in the larynx)!
  • The first skin symptoms are small crusts and vesicles on the face and extremities. These lead to small, acne-like "ice-pick" scars.

Later skin symptoms:

  • First impressive is the rigid facial expression with pronounced perioral and frontal furrow formation. Yellow-white, pinhead-sized nodules; on the extensor sides of the extremities: Confluence with plate-like, coarse plaques, sometimes with a brownish, verrucous or crusty surface.
  • Blistering and ulceration are possible after only minor trauma. Healing with pox-like scarring.
  • Delayed hair and nail growth, possibly permanent hair loss ( scarring alopecia) due to hyaline deposits.
  • Differential diagnostic importance is a pronounced vulnerability and blistering of the skin already in infancy and toddlers.

Extracutaneous manifestations:

  • Even before the skin manifestations, pale white to white-yellowish, usually prominent deposits become visible, especially on the cheek mucosa, the lip mucosa, the pharynx, tonsils and larynx.
  • Increasing macroglossia, loss of tongue mobility due to a thickened frenulum of tongue.
  • Painful recurrent parotid swelling (narrowing of the parotic duct) and dysphagia.
  • Persistent milk teeth with aplasia or hypoplasia of the lateral upper incisors.
  • Trachea and bronchial involvement up to airway obstruction is possible.
  • Infestation of the esophagus, stomach, rectum and vagina; reduced tendency to wound healing.
  • Associated symptoms: Seizures, mental retardation, symmetrical calcifications in the brain.

Laboratory
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Dysproteinemia, pathological glucose tolerance.

Histology
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  • Rather flat surface epithelium with distinct orthokeratotic hyperkeratosis. The papillary dermis is hyalinized, swollen and cell-deficient. Extracellular PAS-positive, diastase-resistant hyaline deposits in the papillary and reticular stratum around vessels and adnexa. In older foci these deposits are thickened like onion skin and can fill the entire papillary dermis. Strong hyaline deposits are also found around the eccrine sweat glands.
  • Electron microscopy: Subepidermal zone consisting of basal laminae of the dermo-epidermal junction zone between which hyaline material is intercalated. The vessels are surrounded by basal laminae and hyaline material. In the upper dermis the elastic fibres are almost completely displaced.

Differential diagnosis
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Therapy
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So far, no curative therapy is known. Surgical removal of functionally disturbing changes. Recurrences are to be expected. Improvement of symptoms is reported in individual cases after many years of taking dimethyl sulfoxide. The hoarseness must be treated by ENT specialists, if necessary decortication of the vocal chords.

Progression/forecast
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Cheap. Progressive course until adulthood.

Literature
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  1. Dogramaci AC et al (2012) Lipoid proteinosis in the eastern Mediterranean region of Turkey. Indian J Dermatol Venereol Leprol 78:318-322

  2. Hamada T et al (2002) Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 11: 833-840
  3. Ramsey ML, Chen JA, Wolf JE Jr (1985) Lipoid proteinosis. Int J Dermatol 24: 230-232
  4. Siebert M et al (2003) Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. Brain 126: 1-11
  5. Urbach E (1933) Cutaneous lipoidosis. Derm Z Berlin 66: 371
  6. Urbach E, Wiethe C (1929) Lipoidosis cutis et mucosae. Virchows Arch Path Anat 273: 285-319
  7. Vago B et al (2007) Hyalinosis cutis et mucosae. JDDG 5: 401-405
  8. Wiethe C (1924) Congenital, diffuse hyaline deposits in the upper airways, familial occurrence. Z Otolaryngology 10: 359
  9. Wong CK et al (1988) Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 119: 514-544
  10. Zhang R et al (2014) Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. J Transl Med 12:85

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Last updated on: 24.01.2021