Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report
Key Clinical Message Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐year‐old girl born to consanguineous parents...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-02-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.8512 |
| _version_ | 1797291561806987264 |
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| author | Farah Naaz Hashmi Sumera Huma Harshini Singireddy Nikhat Zareen Tarun Kumar Suvvari Mustafa Hussain Ansari Nudrat Sultana Md. Al Hasibuzzaman |
| author_facet | Farah Naaz Hashmi Sumera Huma Harshini Singireddy Nikhat Zareen Tarun Kumar Suvvari Mustafa Hussain Ansari Nudrat Sultana Md. Al Hasibuzzaman |
| author_sort | Farah Naaz Hashmi |
| collection | DOAJ |
| description | Key Clinical Message Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐year‐old girl born to consanguineous parents presented with multisystemic manifestations of the disorder. The patient presented with progressive skin lesions evolving from blisters to papules, distinctive beaded papules along eyelid margins, hoarseness of voice, impaired speech, hair loss, and a painful jaw swelling. Clinical examination revealed waxy skin, atrophic scars, and keratotic plaques. Histopathology report revealed amorphous hyaline eosinophilic material deposition. This case report highlights the multisystemic manifestations of LP and the importance of early diagnosis and management. |
| first_indexed | 2024-03-07T19:38:34Z |
| format | Article |
| id | doaj.art-559aaa8d2a9c40008f9dedfb65670a46 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-07T19:38:34Z |
| publishDate | 2024-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-559aaa8d2a9c40008f9dedfb65670a462024-02-29T07:13:20ZengWileyClinical Case Reports2050-09042024-02-01122n/an/a10.1002/ccr3.8512Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case reportFarah Naaz Hashmi0Sumera Huma1Harshini Singireddy2Nikhat Zareen3Tarun Kumar Suvvari4Mustafa Hussain Ansari5Nudrat Sultana6Md. Al Hasibuzzaman7Shadan Institute of Medical Sciences Hyderabad Telangana IndiaShadan Institute of Medical Sciences Hyderabad Telangana IndiaShadan Institute of Medical Sciences Hyderabad Telangana IndiaShadan Institute of Medical Sciences Hyderabad Telangana IndiaRangaraya Medical College Kakinada Andhra Pradesh IndiaShadan Institute of Medical Sciences Hyderabad Telangana IndiaShadan Institute of Medical Sciences Hyderabad Telangana IndiaThe First Affiliated Hospital of Ningbo University Ningbo ChinaKey Clinical Message Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐year‐old girl born to consanguineous parents presented with multisystemic manifestations of the disorder. The patient presented with progressive skin lesions evolving from blisters to papules, distinctive beaded papules along eyelid margins, hoarseness of voice, impaired speech, hair loss, and a painful jaw swelling. Clinical examination revealed waxy skin, atrophic scars, and keratotic plaques. Histopathology report revealed amorphous hyaline eosinophilic material deposition. This case report highlights the multisystemic manifestations of LP and the importance of early diagnosis and management.https://doi.org/10.1002/ccr3.8512case reportgenetic disordersgenodermatosislipoid proteinosis |
| spellingShingle | Farah Naaz Hashmi Sumera Huma Harshini Singireddy Nikhat Zareen Tarun Kumar Suvvari Mustafa Hussain Ansari Nudrat Sultana Md. Al Hasibuzzaman Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report Clinical Case Reports case report genetic disorders genodermatosis lipoid proteinosis |
| title | Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report |
| title_full | Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report |
| title_fullStr | Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report |
| title_full_unstemmed | Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report |
| title_short | Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report |
| title_sort | lipoid proteinosis a rare genodermatosis with multisystemic manifestations a case report |
| topic | case report genetic disorders genodermatosis lipoid proteinosis |
| url | https://doi.org/10.1002/ccr3.8512 |
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