Clinical and histopathological response to acitretin therapy in lipoid proteinosis

Abstract

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis associated with deposition of periodic acid-Shiff (PAS)-positive hyaline material in skin, mucosa, and other tissues. LP is caused by loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1). No curative therapy is available. In this report, we describe the clinicopathological and genetic features of a Turkish LP family with four cases, and evaluate the response of acitretin therapy. Patients were presented with hoarseness and beaded eyelid papules, thickened frenulum, hyperkeratotic plaques and infiltrated warty papules and nodules. Skin biopsies revealed deposition of PAS-positive hyaline material in dermis. A homozygous nonsense mutation in exon 3 of the ECM1 gene, R53X, was detected in the family. Acitretin therapy was administered in two patients, in whom some regression and softening of skin lesions were achieved. However, no histopathological change in PAS-positive deposition could be detected. Although there is no current effective treatment for LP, acitretin may be helpful for patients, especially those who complain about hyperkeratosis.

Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene

“…A published work review from 2006 onwards has reported nine cases in China . LP has been reported to be treated with dimethylsulfoxide, D‐penicillamine, etretinate and carbon dioxide laser but without conclusive therapeutic effect . The in vitro study indicated that acitretin may be able to regulate metabolism of the basement membrane of connective tissue, inhibit fibroblast proliferation and activity, and suppress synthesis of type III collagen at high concentration, which suggest its possible therapeutic role in LP .…”

Stromal Protein Ecm1 Regulates Ureteric Bud Patterning and Branching

“…For example, in patients with Lipoid proteinosis, the extensive scarring of the skin due to accumulation of hyaline can be alleviated by retinoid treatment. The loss of function mutations in Ecm1 in Lipoid proteinosis is thought affect its function in epidermal differentiation and basement membrane formation [36], [37]. In ulcerative colitis, an inflammatory bowel disease caused by mutations in Ecm1 is also treated with retinoids [30].…”

Two Egyptian cases of lipoid proteinosis successfully treated with acitretin

“…19 Akoglu and colleagues reported softening of skin lesions in two lipoid proteinosis patients from the same family. 20 Gunduz et al reported a case of lipoid proteinosis in 21-year-old female that showed marked improvement of hoarseness but no effect on her cutaneous lesions was noted 21 ( Table 1). Therefore to our knowledge, our report might be the first one that demonstrated a possible role for acitretin for the treatment of both cutaneous and mucosal lipoid proteinosis lesions.…”