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Skin in HSD and EDS

Posted By Alan Hakim, June 29, 2013

Introduction

Skin signs are a very important clue as to the possible presence of hypermobility syndromes. There may be skin hyperlaxity, easy bruising, abnormal scarring (often described as ‘atrophic’, ‘papyraceous’ or ‘keloid’ scarring), and the onset of stretch marks at an early age at multiple sites.

These features arise because the structural proteins produced, such as collagen, fibrillin and fibronectin, are not as tightly or evenly knit together when compared to other peoples’ skin. The way these structural proteins are made and interact with each other is genetically determined. There is nothing that can be done to stop it happening by for example injections of collagen or other such medical intervention. General skin care is important, e.g., trying to avoid trauma and allowing time for wounds to heal.

Skin hyperextensibility

This is characteristic for all the Ehlers-Danlos (EDS) subtypes, except for the Vascular type. It is most prominent in the Classical type of EDS, but may be present to a lesser extent in the Hypermobile type and mild or not present in Hypermobility Spectrum Disorder (HSD). In the Vascular EDS, the skin is thin and transparent.

Hyperextensibility is measured by stretching a fold of skin over the back of the hand by pinching the skin between thumb and second finger and pulling the skin fold until resistance is felt. Doctors who see a lot of hypermobile and normal people will develop a skill for sensing whether the skin is more extensible than normal. On letting go of the stretch the skin should quickly return to its usual shape. In a rare group of conditions called cutis laxa syndromes, the skin is redundant and hangs in loose folds, returning very slowly to its former position after being stretched.

Stretch Marks

These are common in pregnancy, obesity, longterm use of corticosteroids, or in the endocrine disorder called Cushing Syndrome where the body produces too much steroid. The typical sites under these circumstances where stretch marks might be seen are the abdomen and lower back. In the hypermobility syndromes stretch marks may appear from an early age and at atypical sites such as the elbows, chest, under the arms, and on the inner thigh. This is common and seen to varying degrees of severity in EDS, and to a lesser extent in Marfan syndrome.

Easy Bruising and Bleeding

Easy bruising is also common in the hypermobility syndromes, especially in EDS. There may also be a tendency toward prolonged bleeding, e.g. following brushing of the teeth. A doctor may test the blood for a coagulation (clotting) abnormality or a platelet abnormality (platelets help the blood to clot), and find nothing wrong. This is because either the bruising is occurring because the skin is fragile and the small capillary blood vessels are breaking, or there is a subtle problem with the platelets that needs a more detailed assessment by a Haematologist (Blood expert).  If there is something wrong with the coagulation tests then this is not due to EDS or HSD and needs further investigation.

Slow/Poor Wound Healing

The most common causes for poor healing are natural ageing and corticosteroid excess. However slow or poor healing is a feature from an early age in the hypermobility syndromes. There are other less common conditions that lead to skin fragility and scarring and these should always be consider (e.g., the porphyrias (porphyria cutanea tarda), the mechano-bullous diseases (epidermolysis bullosa simplex) and vitamin C deficiency).

Delayed wound healing and atrophic scarring may be prominent in EDS, especially in the Classic type, and rarer subtypes such as the Kyphoscoliotic and Arthrochalasia type. However, even in the common conditions healing may be abnormal. This often only comes to light after surgery when the scar becomes thin and stretched. One should always be cautious about the risks of poor wound healing. This should always be considered when surgery of any kind is being considered.

Dr Alan Hakim MA FRCP

Consultant Rheumatologist and Physician, Chief Medical Advisor and Trustee, HMSA

(V.2) Written June 2013, Adapted from Hakim & Sahota 2006. Revised March 2017. Date of review March 2018.

References

De Paepe A, Devereux RB, Dietz HC et al 1996 Revised diagnostic criteria for the Marfan syndrome. Am J Med Gen 62: 417-26.

Grahame R, Bird HA, Dolan AL et al 2000 The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome. J Rheumatol 27: 1777-79.

Grahame R, Hakim AJ. Hypermobility Syndrome. In Practical Rheumatology. Hochberg MC, Silman  AJ, Smolen JS, Weinblatt ME, Weisman MH. 5th Ed  Mosby 2010.

Grahame R, Hakim AJ. Arachnodactyly-a key to diagnosing heritable disorders of connective tissue. Nat Rev Rheumatol. 2013 Jun;9(6):358-64.

Hakim AJ, Sahota A. Connective tissue disorders/joint laxity syndrome. In Rheumatology and Dermatology Interface. Clinics in Dermatology, 2006 24: 521-533.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. 2017. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:8–26.

Ogawa R, Hsu CK. Mechanobiological dysregulation of the epidermis and dermis in skin disorders and in degeneration. J Cell Mol Med. 2013 May 15. doi: 10.1111/jcmm.12060. [Epub ahead of print].

Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. 2017. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet Part C Semin Med Genet 175C:48–69.

 


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