History
The teachers of an 11-year-old girl, who has just started a new school, ask her parents to bring her to your attention. They are concerned that the scarring on her legs might be non-accidental. Her mother doesn’t hesitate to attend for a medical opinion and presents the next day.
The child is the youngest of four siblings. She was born at 36 weeks’ gestation follow-ing premature rupture of membranes. She required an inguinal hernia repair at the age of 18 months. Of note, she has had two injuries that were difficult to explain. When 26 months old she dislocated her shoulder during ‘boisterous’ play with her father and older sisters, and at the age of 5 years she required plastic surgical intervention to a laceration at her left elbow following a relatively minor fall, and despite sutures the wound dehisced and healed poorly. At the age of 3 years she was also investigated at her mother’s request for easy bruising, but all blood tests were normal. She has required podiatric attention because of pain in her ankles and feet, which has been attributed to ‘flat feet’, and she uses orthotic supports in her footwear. Her mother also comments that the child is noticeably more easily fatigued than her siblings and, tellingly, also mentions that she is ‘double-jointed’.
Examination
There are multiple loose, atrophic scars over her knees and shins (Fig. 100.1). Her surgical scars have a similar ‘cigarette paper’, distended appearance. Her skin in general feels very soft, smooth and ‘doughy’. It recoils promptly after stretching. She has a Beighton score of 9 (maximum score). The remainder of her physical examination, including eyes, teeth and cardiovascular system, is normal. Her mother’s physical examination is unremarkable.
Questions
• What differential diagnoses should be considered?
• What is the relevance of the Beighton score?
• What is the management of this patient?
Medicine
The important features are skin fragility (explaining the easy bruising, multiplicity of scars and need for plastic surgery intervention), abnormal scarring (wound dehiscence and atrophic scars) and hypermobile joints (explaining fatiguability, joint dislocations and high Beighton score). Non-accidental injury is frequently considered before the cor-rect diagnosis is reached. Epidermolysis bullosa, although characterized by skin fragil-
ity and abnormal scarring, is also associated with blistering and not with hypermobile joints. The main differential diagnoses are inherited connective tissue disorders such as Ehlers–Danlos syndrome, cutis laxa, Marfan’s syndrome, and pseudoxanthoma elasticum.
The Beighton criteria are used in the assessment of hypermobile joints. The Beighton crite-ria combine phenotype, clinical history and symptoms as well as the above score. A high Beighton score is highly suggestive of joint hypermobility. At least six different phenotypes of Ehlers–Danlos syndrome are classified; however, there is a great deal of overlap between them and absolute clinical distinction is difficult.The complications of Ehlers–Danlos syndrome are varied and include vascular complica- tions (fortunately rare). The vascular form may be complicated by catastrophic arterial rupture and phenotypically shares some marfanoid (facies and habitus) and osteogenesis imperfecta (osteoporosis) features. The history (including premature delivery) for this child is most suggestive of classical (type I or II) Ehlers–Danlos disease. The presence of cardiovascular disease (e.g. mitral valve disease and/or aneurysms) and dental disease should be formally assessed. Most forms of Ehlers–Danlos syndrome are associated with a normal life-expectancy, although lifestyle may be restricted. Hypermobility can be the major cause of disability and requires support, physical and occupational therapy as well as appropriate pain management. Other family members should be assessed for features of this autosomal dominant syndrome complex.
KEY POINTS
• Ehlers–Danlos syndrome is characterized by varying degrees of skin laxity and fragility, with easy bruising and abnormal atrophic scars, as well as joint hypermobility.
• It is frequently unrecognized and the diagnosis may only come to light after non-accidental injury has been considered.
• The cutaneous features may be disfiguring, however the joint disease can be disabling.
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