Dermatology: Practical and Conceptual Commentary | Dermatol Pract Concept. 2023;13(1):e2023003 1 Association Between Lipoid Proteinosis and Coeliac Disease Layla Bendaoud1, Ihssane Bigjoine1, Ouafa Hocar1, Said Amal1 1 Department of Dermatology, Faculty of Medicine and Pharmacy, Mohammed VI University Hospital, Cadi Ayad University, Marrakech, Morocco Citation: Bendaoud L, Bigjoine I, Hocar O, Amal S. Association between lipoid proteinosis and coeliac disease. Dermatol Pract Concept. 2023;13(1):e2023003. DOI: https://doi.org/10.5826/dpc.1301a3 Accepted: July 9, 2022; Published: January 2023 Copyright: ©2023 Bendaoud et al. This is an open-access article distributed under the terms of the Creative Commons Attribution- NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original authors and source are credited. Funding: None. Competing Interests: None. Authorship: All authors have contributed significantly to this publication. Corresponding Author: Layla Bendaoud, Resident in the Department of Dermatology, Rouidate, Marrakech, Telephone: +212678817589, Email: laylabendaoud@gmail.com Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive condition, characterized by a mutation of extracellular matrix protein 1(ECM1), leading to deposition of collagenous material in the skin and tissues [1]. This disease may be associated with diabetes and other abnormalities. We report a case of lipoid proteinosis associ- ated with celiac disease in a 23-year-old man. A 23-year-old patient was admitted to our department for facial edema evolving for 1 year, with no other associated signs. The dermatological examination revealed an infiltrated edema of the face, predominantly on the forehead, associ- ated with discrete 3 mm yellow papules in the ear pavilion (figure 1), without mucosal involvement. The histological study of the papule showed a homogeneous, eosinophilic, PAS-stained dermal deposit of hyaline substance, in favor of lipoid proteinosis. Laboratory tests revealed hypochromic microcytic anemia (hemoglobin of 9 g/dl), ferritin 7ng/ml, hypocholesterolemia 0.7 mmol/l with normal albumin and protein. The patient was further evaluated with an upper endoscopy. The histological examination of the duodenal biopsy revealed atrophic pangastritis with villous atrophy. Test IgA anti-transglutaminases were highly positive at low titer. The diagnosis of coeliac disease was established. The workup for other disease locations of lipoid proteinosis was negative. The therapeutic approach was to put the patient on a gluten-free diet and acitretin for his skin lesions. After 3 months of treatment with acitretin, the dermatological ex- amination noted a minor improvement of the edema. The cu- taneous lesions were still present, without new lesions. Then, he was lost to follow-up. Lipoid proteinosis, also called hyalinosis cutis muco- sae, is a rare, non-life-threatening condition and was first described in 1929 by a dermatologist and an otorhinolar- yngologist, E. Urbach and C. Weithe [2]. Around 300 cases have been reported in the literature with higher prevalence in South Africa and Sweden. Hoarseness of the voice is usually the first sign of this disease that appears in childhood. The dermatological man- ifestations include vesiculobullous lesions, hyperkeratotic plaques on the extensor surfaces of elbows, knees, and hands, yellow papules, and multiple acneiform and pox-like scars that are seen on the face [3]. Moniliform blepharitis is the 2 Commentary | Dermatol Pract Concept. 2023;13(1):e2023003 characteristic ocular involvement, affecting the eyelid mar- gins. This disease may affect all organ systems of the body. Histologic features consist of thick homogeneous, eosin- ophilic hyaline material, periodic acid- Schiff positive, in the basement membrane and the dermis [4]. Some cases in the literature have mentioned the as- sociation of lipoid proteinosis with diabetes [5], and with epilepsy [6]. This is the first report describing an association with coeliac disease. Currently, there is no effective treatment. Several molecules have been used with different results, such as D-penicillamine, dimethyl-sulfoxide, and retinoids for their inhibitory effect on collagen. Also, CO2 laser, dermabrasion, and chemical peeling represent other therapeutic means for the management of cutaneous lesions [3]. Knowledge of this rare disease will aid health profession- als in diagnosing it early, and in providing the appropriate treatment to improve the quality of life. References 1. Parida JR, Misra DP, Agarwal V. Urbach-Wiethe syndrome. BMJ Case Reports. Published online September 2, 2015:bcr2015 212443. doi:10.1136/bcr-2015-212443 2. Naha K. Lipoid Proteinosis Mimicking Congenital Immunode- ficiency: A Case Report. AMJ. 2011;4(3):155-159. doi:10.4066 /AMJ.2011.635 3. Natarajan B, Prathap P, Asokan N, Balakrishnan S. Lipoidproteinosis – An erratic disease with an archetypal presentation. JSSTD. 2020;2:56-58. doi:10.25259/JSSTD_9_2020 4. Giandomenico SD, Masi R, Cassandrini D, et al. Lipoidproteinosis: case report and review of the literature. :6. 5. Baykal C, Topkarci Z, Yazganoglu KD, Azizlerli G, Baykan B. Lipoidproteinosis: a case seriesfrom Istanbul. International Jour- nal of Dermatology. 2007;46(10):1011-1016. doi:10.1111/j.13 65- 4632.2007.03115.x 6. Tecellioglu M, Kamisli O, Acar C, et al. Lipoidproteinosis and epilepsy: Molecular analysis. Ann Med Res. 2019;(0):1. doi:10.5455/annalsmedres.2019.02.100 Figure 1. Yellowish-white papules of the ear.