Postgraduate Medical Journal 2005;81:e5
© 2005 Fellowship of Postgraduate Medicine
Unusual scars in a young female patient
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Q1: What other signs and symptoms would she present with?
- Skinskin feels velvety to touch and is soft. Stretches and springs back easily. Atrophic "cigarette paper" scars.
- Musculoskeletalpronounced joint hypermobility.
- Otherseasy bruising and poor muscle tone.
Q2: What could be the cause of scars across her back?
Chickenpox scars when she was 10 years of age.
Q3: What is the diagnosis?
Ehlers-Danlos syndrome type 1.
Discussion
Ehlers-Danlos syndrome is a group of genodermatoses affecting connective tissues predominantly collagen fibres that are structurally abnormal.1 Defects in elastin2 and fibronectin3 metabolisms have been found in Ehlers-Danlos syndrome type IV and V respectively. Typically the dermal collagen is disorderly, sparse, and vortex-like. The mode of inheritance is variable and can be autosomal dominant, recessive, and X-linked recessive. Table 1
summarises the various types of Ehlers-Danlos syndrome.
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Table 1 The various types of Ehlers-Danlos syndrome
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This patient has Ehlers-Danlos syndrome type 1. The clinical features are predominantly cutaneous and musculoskeletal. Hyperextensible skin with normal springiness is a characteristic feature. Laxity of skin occurs later in life. The skin is fragile . . . [Full text of this article]
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