Medical Care
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. [20]
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. [21]
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. [22, 23]
Seizures, if present, may be treated with appropriate anticonvulsant medications.
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. [24]
Dermabrasion may improve the appearance of skin lesions.
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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Characteristic beaded papules on the eyelid (moniliform blepharosis). Courtesy of Kenneth E. Greer, MD.
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Waxy, yellow skin thickening and atrophic scarring. Courtesy of Kenneth E. Greer, MD.
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Beaded papules on the upper labial mucosa. Courtesy of Kenneth E. Greer, MD.
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Woody induration and depression of the tongue. Courtesy of Kenneth E. Greer, MD.
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Waxy, infiltrated, yellowish skin with depressed, atrophic scarring. Courtesy of Kenneth E. Greer, MD.
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Waxy skin with atrophic, depressed scars on the forehead. Courtesy of Kenneth E. Greer, MD.
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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.
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Adult male with lipoid proteinosis. His leonine facies appearance is a result of diffuse skin infiltration. Courtesy of Kenneth E. Greer, MD.
