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A 26-year-old man was referred to our department with a 4-month history of spontaneous skin lesions on both shins. The patient, who was born to healthy non-consanguineous parents after an uncomplicated gestation, was affected by a chromosome 6q deletion. Major facts in his past medical history were a bilateral congenital hip dislocation, severe myopia and mild mental retardation. Physical examination revealed short stature, pectum carinatum, long and disproportionate arms, kyphoscoliosis, bilateral genum varum, muscle hypotonia and marked general joint hypermobility, resulting in an unstable gait. His head presented a central forehead ®ssure, small globes, ocular hypertelorism, pointed palate, small mouth, micrognathia and rotated ears (Fig. 1). The patient's teeth were normal and there was no periodontal disease. The skin of both of his shins was fragile and showed ecchymoses, erosions and ulcers. Super®cial varicose veins were also present. Located at the extensor sites of both knees and elbows, the patient had grey, ``cigarette paper'' scars, with wrinkling and atrophy of the surface. They had a velvety texture and, characteristically, they were easily stretched, returning to their original form on release. Chromosome 6q deletion was con®rmed from G-banding pattern preparation. All initial analyses, including copper serum levels and thyroid hormones, were within normal limits. Either abdominal or cardiac ultrasound studies showed any pathological ®ndings. An ophthalmological examination excluded keratoconus and intraocular haemorrhage. Skin biopsies from the involved areas of the shin and the knee showed an atrophic epidermis with basal hyperpigmentation. Located in the upper dermis there were oedematous, broken, collagen ®bres. Hemosiderin deposits, mainly perivascular, were present at the reticular dermis. The orcein staining showed an increase in the amount of elastic ®bres, which were seen best in the dermohypodermal union and the hypodermis. An important increase in ̄occulent material, representing degraded collagen or collagen precursors, was observed on electron microscopy.

Clinical Features of Ehlers-Danlos Syndrome Type VII in Chromosome 6q Deletion