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Lipoid proteinosis in a 12-year-old child: a report from west India
Sangeeta Kini1, Ashok Jain, Tanuja M Shet
1Department of Pathology, Terna Medical College and Hospital, Navimumbai. sangukini@yahoo.co.in
Insights
Lipoid proteinosis, a rare genetic disorder, affects children with skin lesions, hoarseness, and epilepsy. Histology confirmed characteristic PAS-positive material in skin biopsies, aiding diagnosis.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Lipoid proteinosis is a rare autosomal recessive disorder characterized by the deposition of hyaline-like material in various tissues.
- Early diagnosis and understanding of its pathophysiology are crucial for patient management.
Observation:
- A 12-year-old male presented with a history of skin lesions, hoarseness, and epilepsy since childhood.
- Clinical examination revealed beaded eyelid margins and patchy scalp alopecia.
Findings:
- Histopathological examination of skin biopsies showed periodic acid-Schiff (PAS)-positive, diastase-resistant material in the papillary dermis.
- Electron microscopy revealed a characteristic "granulo-filamentary" ultrastructure of the deposited material.
Implications:
- This case highlights the diagnostic features of lipoid proteinosis, emphasizing the importance of integrating clinical and pathological findings.
- The rarity of this disorder in India underscores the need for increased awareness among clinicians for timely diagnosis and genetic counseling.
Abstract:
A 12-year-old male child born of non-consanguineous parents presented with multiple skin lesions, hoarseness of voice, and episodes of epilepsy since early childhood. The findings of characteristic beaded eyelid margins, patchy alopecia of the scalp, hoarseness of voice, and epilepsy were consistent with a rare clinical diagnosis, lipoid proteinosis. Skin biopsies obtained from representative skin lesions were subjected to histology and electron microscopy. Light microscopy demonstrated PAS-positive diastase-resistant material in the papillary dermis of skin. Ultrastructure revealed granulo-filamentary aspect of the accumulated material. Although this rare autosomal recessive disorder has been described in the literature, its occurrence is rare in India.