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Lipoid proteinosis (Urbach-Wiethe disease): a case report from India

Kadambari Batra1, Anil Safaya, Kiran Aggarwal

  • 1Department of Ear Nose and Throat-Head and Neck Surgery, Vardhman Mahaveer Medical College and Safdarjung Hospital, New Delhi, India. kadambaribatra@gmail.com

Ear, Nose, & Throat Journal
|September 19, 2008
PubMed

Insights

Lipoid proteinosis, a rare genetic disorder, causes hyaline deposits affecting skin and airways. Early recognition of hoarseness is crucial to prevent life-threatening breathing issues in children.

Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive disorder.
  • Characterized by hyaline deposition in various tissues, primarily affecting skin and upper aerodigestive tract mucosa.
  • Often presents in childhood with hoarseness due to laryngeal involvement.

Observation:

  • A 12-year-old girl presented with significant hoarseness and noticeable skin lesions.
  • Clinical presentation indicated potential laryngeal compromise.
  • Symptoms were consistent with established descriptions of lipoid proteinosis.

Findings:

  • The case highlights hoarseness as a primary and critical presenting symptom of lipoid proteinosis.
  • Skin lesions were also a key diagnostic indicator in this patient.
  • Diagnosis was confirmed through clinical presentation and characteristic hyaline deposits.

Implications:

  • Emphasizes the importance of considering lipoid proteinosis in the differential diagnosis of pediatric hoarseness.
  • Underscores the potential for airway compromise, necessitating prompt medical evaluation.
  • Highlights the need for increased awareness among clinicians regarding this rare condition and its early signs.

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