Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII. 1. Introduction Ehlers-Danlos syndromes (EDS) are heritable connective tissue diseases caused by defects in the collagen meshwork. The main features include articular hypermobility, skin hyperextensibility, and connective tissue fragility. Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease with about 60 previously reported cases. Early-onset periodontitis with complete loss of adult dentition by the end of the third decade characterizes this entity [1]. Leg ulcer is not a prominent feature of EDS-VIII. We report the case of a 32-year-old man with recurrent leg ulcers leading to the diagnosis of EDS-VIII, and we discuss the opportunity to add EDS-VIII as a previously unrecognized cause of leg ulcer. 2. Case Report A 32-year-old man was referred for clinical evaluation because of a persistent leg ulcer. He had suffered from leg ulcers for 15 years associated with superficial venous insufficiency treated with two phlebectomies. Family history revealed a complete loss of teeth at the age of 30 for his mother and a heterozygous alpha-1-antitrypsin deficiency in his paternal uncle and grandmother, with no known venous insufficiency. He weighed 79？kg for 1.73？m ( ？kg m？2). He had a 6 by 9？cm ulcer on the anterior aspect of the left leg (Figure 1(a)) and bilateral brownish atrophic plaques on the pretibial areas mimicking necrobiosis lipoidica (Figure 1(b)). Distal pulses were present. His skin was thin with visible venous pattern on the trunk (Figure 1(c)). Four atrophic scars were noted on his right knee and both thighs (Figure 1(d)). There was no skin hyperextensibility or joint hypermobility. He had periodontitis with apical root resorption and gingival recession (Figure 1(e)). Figure 1: Typical features of EDS-VIII in our patient. (a) Leg ulcer within a brownish atrophic pretibial plaque. (b) Brownish atrophic plaque on the opposite leg. (c) Visible venous pattern on the trunk. (d)