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Lipoid Proteinosis Treatment & Management

  • Author: Ivan D Camacho, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Mar 22, 2016
 

Medical Care

No cure is known. The disease follows a stable, chronic course but may fluctuate in intensity. No uniformly successful treatment is available.

Scattered anecdotal reports have described successful treatments, but they are not widely applicable.

A single case report demonstrated that continuous treatment with the chelating agent D-penicillamine produced both clinical and histological improvement.[12]

Another single case report demonstrated resolution of skin lesions after 3 years of continuous treatment with oral dimethyl sulfoxide (DMSO). However, a more recent report showed no benefit of DMSO in 3 patients at an average treatment duration of 3 years.[13]

Treatment with potent topical corticosteroids has also shown benefit by healing of lesions and prevention of new lesion formation in a single case report.

Acitretin at a dose of 0.5 mg/kg/day for up to 6 months demonstrated improvement in the hoarseness, appearance of vesiculobullous lesions, and palmoplantar hyperkeratosis.[14, 15]

Seizures, if present, may be treated with appropriate anticonvulsant medications.

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Surgical Care

Surgical resection of vocal cord papules has been useful in improving vocal quality. Carbon dioxide laser ablation has been used to treat vocal cord lesions.[16]

Dermabrasion may improve the appearance of skin lesions.

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Consultations

Lipoid proteinosis is a chronic disease that can involve many organ systems. Consultations with the appropriate specialists, depending on the system involved, are indicated.

Pediatricians should follow patients for routine health issues and for developmental, emotional, and cognitive progress.

A neurologist should assess and manage seizures.

Dermatologists can aid in diagnostic confirmation with assessment of clinical features and appropriate biopsies. Scar revision may be possible with dermabrasion, laser therapy, and other specialized techniques.

Otorhinolaryngologists can assess airway and vocal cord involvement and can plan surgical intervention as indicated.

Geneticists can review the family history and provide reproductive counseling.

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Contributor Information and Disclosures
Author

Ivan D Camacho, MD Dermatologist, Private Practice; Voluntary Assistant Professor of Dermatology, Department of Dermatology and Cutaneous Surgery, University of Miami, Leonard M Miller School of Medicine

Ivan D Camacho, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Florida Medical Association, International Society of Dermatology, Women's Dermatologic Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Lester F Libow, MD Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Texas Medical Association

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Kelly M Cordoro, MD Assistant Professor of Clinical Dermatology and Pediatrics, Department of Dermatology, University of California, San Francisco School of Medicine

Kelly M Cordoro, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Association of Professors of Dermatology, Dermatology Foundation, Medical Society of Virginia, National Psoriasis Foundation, Society for Pediatric Dermatology, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Vincent A De Leo, MD Clinical Professor of Dermatology, Department of Dermatology, College of Physicians and Surgeons of Columbia University; Chairman, Department of Dermatology, Director of Dermatology Residency Training Program, St Luke's-Roosevelt Hospital Center; Chairman, Department of Dermatology, Beth Israel Medical Center

Vincent A De Leo, MD is a member of the following medical societies: American Academy of Dermatology, American College of Occupational and Environmental Medicine, American Contact Dermatitis Society, American Dermatological Association, American Medical Association, American Society for Photobiology, Dermatology Foundation, New York Academy of Medicine, New York County Medical Society, Photomedicine Society, Society for Investigative Dermatology,Society of Toxicology, and Women's Dermatologic Society

Disclosure: estee lauder Consulting fee Consulting; laroche posay Consulting fee Consulting; schering plough Consulting fee Consulting; pfizer Consulting fee Consulting; orfagen Grant/research funds study - clinical

Michael F Osleber University of Virginia School of Medicine

Disclosure: Nothing to disclose.

Joseph J Shaffer, MBBS Fellow, Dermatologic Surgery, Department of Cutaneous Surgery, Fairview University Medical Center

Disclosure: Nothing to disclose.

References
  1. 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 Apr 1. 11(7):833-40. [Medline].

  2. Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003 Mar. 120(3):345-50. [Medline].

  3. Izadi F, Mahjoubi F, Farhadi M, Tavakoli MM, Samanian S. A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient. Genet Mol Res. 2012 Nov 14. 11(4):3955-60. [Medline].

  4. Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A. Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. Diagn Pathol. 2011 Jul 26. 6:69. [Medline]. [Full Text].

  5. Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with two case reports. Contemp Clin Dent. 2015 Apr-Jun. 6 (2):233-6. [Medline].

  6. Gutte R, Sanghvi S, Tamhankar P, Khopkar U. Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J. 2012 May. 3(2):148-9. [Medline]. [Full Text].

  7. Arkadir D, Lerer I, Klapholz L, Halpert M, Newman JP, Gomori JM, et al. Lipoid proteinosis with bilateral amygdalae calcifications, headache, and cognitive impairments. Neurology. 2013 Jul 16. 81(3):303-4. [Medline].

  8. Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, et al. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet. 2011 Feb 24. 12:31. [Medline]. [Full Text].

  9. Xu W, Wang L, Zhang L, Han D, Zhang L. Otolaryngological manifestations and genetic characteristics of lipoid proteinosis. Ann Otol Rhinol Laryngol. 2010 Nov. 119(11):767-71. [Medline].

  10. Callizo M, Ibáñez-Flores N, Laue J, Cuadrado V, Graell X, Sancho JM. Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. Orbit. 2011 Oct. 30(5):242-4. [Medline].

  11. Chan I, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, et al. Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci. 2004 Aug. 35(2):151-3. [Medline].

  12. Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol. 2002 Jul-Aug. 19(4):359-62. [Medline].

  13. Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol. 1988 Oct. 119(4):541-4. [Medline].

  14. Dertlioglu SB, Calik M, Ciçek D. Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from Sanliurfa. Int J Dermatol. 2013 Dec 10. [Medline].

  15. Akoglu G, Karaduman A, Ergin S, Erkin G, Gokoz O, Unal OF. Clinical and histopathological response to acitretin therapy in lipoid proteinosis. J Dermatolog Treat. 2011 Jun. 22(3):178-83. [Medline].

  16. Kroukamp G, Lehmann K. Treatment of laryngeal lipoid proteinosis using CO2 laser. S Afr Med J. 2007 Feb. 97(2):90, 92. [Medline].

 
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Characteristic beaded papules on the eyelid (moniliform blepharosis). Courtesy of Kenneth E. Greer, MD.
Waxy, yellow skin thickening and atrophic scarring. Courtesy of Kenneth E. Greer, MD.
Beaded papules on the upper labial mucosa. Courtesy of Kenneth E. Greer, MD.
Woody induration and depression of the tongue. Courtesy of Kenneth E. Greer, MD.
Waxy, infiltrated, yellowish skin with depressed, atrophic scarring. Courtesy of Kenneth E. Greer, MD.
Waxy skin with atrophic, depressed scars on the forehead. Courtesy of Kenneth E. Greer, MD.
Infiltrated, thickened skin with atrophic and hyperpigmented scarring in 2 brothers with lipoid proteinosis. Note the tongues, which are firm and woody, ulcerated, and unable to be completely protruded because of infiltration of the frenulum. Courtesy of Kenneth E. Greer, MD.
Adult male with lipoid proteinosis. His leonine facies appearance is a result of diffuse skin infiltration. Courtesy of Kenneth E. Greer, MD.
 
 
 
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