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Case Reports
. 2014 Mar 31;8(1):29-34.
doi: 10.3315/jdcr.2014.1168.

Two Egyptian cases of lipoid proteinosis successfully treated with acitretin

Ola Ahmed Bakry  1 , Rehab Monir Samaka  2 , Nanees Shawky Houla  2 , Mohamed Ahmed Basha  1
Affiliations
Case Reports

Two Egyptian cases of lipoid proteinosis successfully treated with acitretin

Ola Ahmed Bakry et al. J Dermatol Case Rep. .

Abstract

Background: Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs.

Main observation: We report two cases of lipoid proteinosis. A 2-year-old girl presented with vesiculobullous skin lesions on her face, trunk, extremities and scalp, inability to protrude the tongue and hoarseness of voice that appeared few months after birth. The other case is a 4-year-old girl, who presented with waxy papules on face and trunk, hoarseness of voice and enlarged lips and tongue. The lesions healed leaving pitted scars in both cases. Based on clinical, histopathological and laryngoscopy findings, lipoid proteinosis was diagnosed in both cases. Acitretin was started in a dose of 0.5 mg/kg/day in every child. Complete remission of cutaneous lesions and improvement of the hoarseness was observed after one year.

Conclusion: Acitretin may be benificial for treatment of mucosal and cutaneous lesions in lipoid proteinosis.

Keywords: acitretin; blister; genodermatoses; hoarseness; lipoid proteinosis; pharynx; throat.

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Figures

Figure 1
Figure 1
Atrophic scars on forehead of patient 1 (A) and in patient 2 (B).
Figure 2
Figure 2
A) deposition of homogenous structurless eosinophilic material in dermo-epidermal junction (arrows) and dermis. B) the dermis displays the same deposits around the adnexal structures (arrows) and freely (H and E X200).
Figure 3
Figure 3
PAS positive, diastase resistant material is deposited around hair follicle and intact eccrine sweat glands (A and B) (PAS X400).
Figure 4
Figure 4
PAS positive, diastase resistant material is deposited A) around sebaceous glands (Black arrows) and freely in dermis (green arrows), B) around blood vessels and C) atrophic eccrine sweat glands (PAS X400).
Figure 5
Figure 5
A, B) ruptured vesiculobullous lesions on the scalp that completely healed following acitretin therapy. C, D) ulcerated crusted lesion that healed after acitretin therapy. E, F) ulcerated lesion over the elbow that resolved after acitretin therapy.
Figure 6
Figure 6
A, B) Improved tongue protrusion in case 1 after 6 months of treatment. C, D) Reduction in tongue size and improved protrusion in case 2.
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