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Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations-A case report
Farah Naaz Hashmi1, Sumera Huma1, Harshini Singireddy1
1Shadan Institute of Medical Sciences Hyderabad Telangana India.
Clinical Case Reports
|February 8, 2024
Summary
Lipoid proteinosis (LP) is a rare genetic disorder causing hyaline material deposition in organs and skin. This case highlights its multisystemic impact in an 11-year-old girl, emphasizing early diagnosis.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis.
- Characterized by amorphous hyaline material deposition in skin, mucosa, and visceral organs.
Observation:
- A case of an 11-year-old girl with consanguineous parents presenting with multisystemic LP.
- Clinical features included progressive skin lesions (blisters to papules), beaded eyelid papules, hoarseness, impaired speech, hair loss, and jaw swelling.
- Examination revealed waxy skin, atrophic scars, and keratotic plaques.
Findings:
- Histopathology confirmed amorphous hyaline eosinophilic material deposition.
- The case illustrates diverse clinical manifestations of lipoid proteinosis.
Implications:
- Highlights the importance of recognizing multisystemic involvement in lipoid proteinosis.
- Underscores the need for early diagnosis and management of this rare genetic disorder.
