Images in Clinical Practice

Indian Pediatrics 2002; 39:784-785

Ehler-Danlos Syndrome

A 7 year old male child was brought with a large cephalhematoma following a trivial injury. It occupied right occipito-parietal region of the scalp. He had hyperextensible skin and hypermobile joints.The thin elastic skin had cigarette paper scars evident over the knee joint and shin of the tibia (Fig.1). He had marfanoid features, arachnodactyly, widely spaced eyes, a prominant nasal bridge, epicanthal folds, frontal bossing, but no cataract or lens dislocation. There was no gastrointestinal bleeding and the cardiovascular system was normal. There was no similar family history or history of consanguinity.

Fig. 1. Photograph of the child showing the features enumerated.

Ehler-Danlos syndrome (EDS) is a group of generalized disorder of connective tissue characterized by fragility of the skin and blood vessels, hyperextensibility of the skin and joint hypermobility and poor wound healing with atrophic scarring. At least 10 types have been defined. The syndrome may be inherited as an autosomal dominant, recessive or X linked recessive trait. This child had the characteristics of Type VI which presents with marfanoid features, bleeding from wounds, scoliosis and delayed motor development.

Genetic counseling is important for this inherited disorder. Ascorbic acid diminishes bruising, improves wound healing and muscular strength in some types such as types II and IV. Bleeding is managed conservatively. Cosmetic surgery may help for ugly scars. The patient should be protected from sun exposure and trauma.