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Unusual scars in a young female patient

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Q1: What other signs and symptoms would she present with?

  • Skin—skin feels velvety to touch and is soft. Stretches and springs back easily. Atrophic “cigarette paper” scars.

  • Musculoskeletal—pronounced joint hypermobility.

  • Others—easy 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.

Table 1

 The various types of Ehlers-Danlos syndrome

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 such that minor trauma or even cutaneous infections lead to gaping “fish mouth” wounds, which heal slowly leaving behind atrophic “cigarette paper” scars. Bruising is also an important feature. Molluscoid pseudotumours, which are spongy and blue-grey in appearance, may form in scars and over pressure points. These facts should be taken into consideration when surgical procedures are planned.

The musculoskeletal manifestations include joint laxity with recurrent dislocation and postural abnormalities such as kyphoscoliosis.4 There is weakness of supporting structures with increased risk of inguinal hernias, eventration of the diaphragm, and torsion of the stomach.5 Prematurely ruptured fetal membranes with premature births and uterine prolapse in pregnancy have also been described. Life expectancy, physical, and mental developments are normal.

Final diagnosis

Ehlers-Danlos syndrome type I with chickenpox scars.

References

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    J E Lai Cheong S M Rajpara R M Azurdia