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Case Reports
. 2020 Jan-Feb;65(1):53-56.
doi: 10.4103/ijd.IJD_523_18.

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings

Hera Tabassum  1 , Sabha Mushtaq  1 , Syed Suhail Amin  1 , Mohammad Adil  1 , Mohammad Mohtashim  1 , Kafil Akhtar  2
Affiliations
Case Reports

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings

Hera Tabassum et al. Indian J Dermatol. 2020 Jan-Feb.

Abstract

Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21. It is characterized by infiltration of hyaline material into the skin, mucosae, and internal organs. Patients present with a classical history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice and restricted tongue movement. A variety of ocular manifestations have been described in association with LP. We report a case of a 10-year-old female child with typical features suggestive of LP associated with unilateral esotropia. The case is reported here for its rarity and uncommon association with esotropia hitherto not documented. Dermoscopic findings of the case are also discussed.

Keywords: Dermoscopy; Urbach-Wiethe disease; esotropia; hoarseness; lipoid proteinosis; moniliform blepharosis.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Waxy, shiny facial skin and moniliform blepharosis. (b) Infiltrated, nodulated skin of left axilla with an uneven surface. (c) Hyperkeratotic plaque over the nape of neck. (d) Short and thick frenulum and waxy, infiltrated lips
Figure 2
Figure 2
(a) Photomicrograph showing elongated rete ridges and deposition of homogenous eosinophilic hyaline material in the dermis (H and E, ×10). (b) The eosinophilic material is seen surrounding the blood vessels and adnexa. (H and E, ×40). (c) Periodic-acid-Schiff positive magenta colored hyaline material (PAS, ×40)
Figure 3
Figure 3
Dermoscopy using Dermlite DL4 from (a) Left axilla showing pale-white structureless areas (black triangles) and sulci and gyri (black arrows). (b) Nape of the neck showing round pinkish-white structures in clumps giving a “pulpy or pulp-like” appearance (circles). (c) Characteristic eyelid beading (red square) and distichiasis of the right upper eyelid (yellow arrow head). The eyelashes are misaligned
See this image and copyright information in PMC

Comment in

  • Novel features in dermoscopy of lipoid proteinosis.
    Ray A, Agrawal I, Singh BS, Kar BR. Ray A, et al. Indian J Dermatol Venereol Leprol. 2023 Jan-Frebuary;89(1):116-118. doi: 10.25259/IJDVL_1027_2021. Indian J Dermatol Venereol Leprol. 2023. PMID: 36331838 No abstract available.

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