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Vesiculobullous eruption revealing lipoid proteinosis: A potential diagnostic pitfall. A case report and a brief

Anissa Zaouak1, Hela Zribi1, Dalenda Eleuch1

  • 1Department of Dermatology, La Rabta Hospital, Tunis, Tunisia.

International Journal of Pediatrics & Adolescent Medicine
|February 27, 2019
PubMed

Insights

Lipoid proteinosis (LP) is a rare genetic disorder. This case highlights early skin manifestations and hoarseness in a child, emphasizing the importance of timely diagnosis and management.

Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae, is a rare autosomal recessive disorder.
  • It is characterized by the deposition of hyaline-like material in various tissues, leading to characteristic clinical features.

Observation:

  • A 3.5-year-old girl presented with chronic, recurrent vesiculobullous skin eruptions since infancy.
  • Hoarseness of the voice was noted within the first few months of life.
  • Clinical examination revealed tense vesicles and erosions on the face, hands, and elbows, with facial skin thickening.

Findings:

  • Histologic examination confirmed the diagnosis of lipoid proteinosis.
  • The early erosive stage can present with vesiculobullous lesions.
  • Hoarseness is an early indicator of mucosal involvement.

Implications:

  • Early recognition of skin and voice changes is crucial for prompt diagnosis of lipoid proteinosis.
  • Understanding the varied clinical presentations, especially the erosive stage, aids in differential diagnosis.
  • This case underscores the need for long-term follow-up and therapeutic management in affected children.

Keywords:
DiagnosisEarly stageLipoid proteinosis

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