Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene

Lipoid proteinosis is a rare autosomal recessive genodermatosis which affects approximately one in 300 000 people, characterized by scarring and deposition of an amorphous material in the skin, mucosae membranes and viscera. Hyaline-like material is deposited around capillaries and adnexa causing basement membrane thickening [1]. Over 300 cases have been reported worldwide, including South African descendants of German or Dutch immigrants (due to the founder effect) and in the eastern Mediterranean region of Turkey (due to cultural allowance for consanguineous marriages) [2]. The disease typically follows a slowly progressive, yet often benign, course and appears to invariably manifest in the first 2 years of life with hoarseness and skin lesions. Virtually any organ may be involved, but involvement of internal organs rarely leads to deleterious consequences. Lifespan is otherwise normal but disease could cause psychological distress and diminished quality of life [3].
Mutations in the gene encoding extracellular matrix protein 1 (ECM1) on band 1q21 were identified as the cause of lipoid proteinosis in 2002 [4] and were located mostly in exons 6 and 7 (exon 7 mutations – milder, 6 – more severe form of the disease) [5]. Only three mutations have been described either in the initial first two exons or in the first intron of the ECM1 gene [6].
Patient concerns: a 9-year-old girl was admitted to the ENT department of the hospital. The main complaint from the parents was multiple nodular lesions affecting mucosa of gums and lips causing feeding difficulties and cosmetic defects.
Clinical findings: Physical examination on admission revealed skin-colored/yellowish waxy multiple papules along eyelid borders causing an irregular eyelash line; waxy papules grouping into plaques in the mucous membrane of the gums and lips. Dermal involvement was present predominantly affecting the skin of the forehead, characterized by atrophic scaring of the middle face and focal cicatricial alopecia (Figure 1 A). A low, hoarse vocal tone was evident. According to the mother, papular facial and pectoral skin lesions appeared in the 2nd year of life with the subsequent evolution of papules into atrophic scars. Atopic dermatitis was initially diagnosed. Symptoms have gradually worsened over several years. She was frequently hospitalized in pediatric wards, humoral immunodeficiency was excluded when the girl was 5 year old but the IgE level (201 U/ml) was elevated....


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