Lipoid proteinosis in two Indian brothers - a case report from South Bengal
DOI:
https://doi.org/10.66344/jpad.v24i1.181Keywords:
Lipoid proteinosis, hyalinosis cutis, calcificationAbstract
Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype, caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid-Schiff-positive, diastase resistant material in skin, mucous membrane and internal organs. There are only few reports regarding lipoid proteinosis in literature and in this part of the world. Here, we report a case of lipoid proteinosis in a 29-year-old male with positive family history and widespread distribution involving skin and internal organs. Histopathological finding was consistent with clinical diagnosis of lipoid proteinosis.
References
1. Navarro C, Fachal C, Rodríguez C et al. Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases. Br J Dermatol. 1999;141:326-31.
2. Sarkany RPE, Breathnach SM, Seymour CA. Metabolic and nutritional disorders. In: Burns T, Breathnach S ,Cox N, Griffiths CH. Rook’s Textbook of Dermatology, Vol. 3, 7th edn. Oxford: Blackwell Science; 2004. P.56-57.
3. Rosenthal AR, Duke JR. Lipoid proteinosis: case report of direct lineal transmission. Am J Ophthalmol 1967;64:1120-5.
4. Dyer JA. Lipoid proteinosis. In: Wolff K, Goldsmith LA, Katz SI et al., editors. Fitzpatrick's Dermatology in General Medicine, Vol. 2, 7th edn. New York: McGraw-Hill; 2008. P.1288-92.
5. Bozdağ KE, Gül Y, Karaman A. Lipoid proteinosis. Int J Dermatol. 2000;39:203-4.
6. Grosfild JCM, Spaas J, vande Staak WJBM, Stadhouders AM. Hyalinosis cutis et mucosae. Dermatologia. 1965;130:239-66.
7. Bansal NK, Mathur GK. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1982;48:209-12.
8. Bagale RT. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1982;48:295-97.
9. Kumar AS, Seetharam KA, Singh MK, Vasvani N. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1986;52:95-8.
10. Hamada T, McLean WH, Ramsay M et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002;11:833-40.
11. Hamada T, Wessagowit V, South AP et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003;120:345-50.
12. Staut CCV, Naidich TP. Urbach-Weithe disease (lipoid proteinosis). Pediatr Neurosurg. 1998;28:212-4.
13. Hamada T. Lipoid proteinosis. Clin Exp Dermatol. 2002;27:624-9.
14. François J, Bacskulin J. Manifestations oculaires du syndrome d’Urbach Wiethe. Opthalmologica. 1968;155:433-8.
15. Farolan MJ, Ronan SG, Solomon LM, Loeff DS. Lipoid proteinosis: case report. Pediatr Dermatol. 1992;9:264-7.
16. Singh G, Misra D. Lipoid proteinosis. Int J Dermatol. 1988;27:344-5.
17. Cinaz P, Gúvenir T, Gólúnsen G. Lipoid proteinosis: Urbach-Wiethe disease. Acta Paediatr. 1993;82:892-3.
18. Arnold HL, Odom RB, James WD, editors. Andrews’ Diseases of the Skin, 8th edn. Philadelphia: WB Saunders; 1990.
19. Muda AO, Paradisi M, Angelo C et al. Lipoid proteinosis: clinical, histologic and ultrastructural investigations. Cutis. 1995;56:220-4.
20. Harper JI, Filipe MI, Staughton RCD. Lipoid proteinosis: Variations in histochemical characteristics. Clin Exp Dermatol. 1983;8:135-41.
Downloads
Published
Issue
Section
License
Copyright (c) 2016 K Shome, I Das, A Saha, N Jain, J Seth, Dr. Rajesh
This work is licensed under a Creative Commons Attribution 4.0 International License.
Submission declaration
Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.
By submitting a manuscript, authors confirm that the work has not been published previously (except as an abstract, lecture, or academic thesis), is not under review elsewhere, and has been approved by all authors and relevant authorities. Once accepted, the article will be openly accessible under the CC BY 4.0 license, ensuring wide dissemination and reuse with proper attribution.
