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The Skin in the Ehlers-Danlos Syndromes

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The Skin in the Ehlers-Danlos Syndromes EDS Global Learning Conference July 30-August 1, 2019 (Nashville) The Skin in the Ehlers-Danlos Syndromes Dr Nigel Burrows Consultant Dermatologist MD FRCP Department of Dermatology Addenbrooke’s Hospital Cambridge University NHS Foundation Trust Cambridge, UK No conflict of interests or disclosures Burrows, N: The Skin in EDS 1 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) • Overview of skin and anatomy • Skin features in commoner EDS • Skin features in rarer EDS subtypes • Skin management The skin • Is useful organ to sustain life ØProtection - microorganisms, ultraviolet light, mechanical damage ØSensation ØAllows movement ØEndocrine - vitamin D production ØExcretion - sweat ØTemperature regulation Burrows, N: The Skin in EDS 2 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) The skin • Is useful organ to sustain life • Provides a visual clue to diagnoses • Important for cultures and traditions • Ready material for research Skin Fun Facts • Largest organ in the body • In an average adult the skin weighs approx 5kg (11lbs) and covers 2m2 (21 sq ft) • 11 miles of blood vessels • The average person has about 300 million skin cells • More than half of the dust in your home is actually dead skin • Your skin is home to more than 1,000 species of bacteria Burrows, N: The Skin in EDS 3 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) The skin has 3 main layers Within the Dermis Extracellular Matrix 1. Collagen 2. Elastic fibres 3. Ground Substances i) glycosaminoglycans, ii) proteoglycans, iii) glycoproteins and iv) other extra-fibrillar matrix Burrows, N: The Skin in EDS 4 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) The underlying causes of EDS all affect collagen Collagen proteins and Intracellular processes processing SLC39A13, ZNF469, COL1A1, 1A2, 3A1, 5A1, PRDM5 5A2, ADAMTS2 Collagens Collagen cross-linking and folding Disorders of complement pathway PLOD1, FKBP14 C1R, C1S Extracellular matrix Glycosaminoglycans remodeling (extracellular matrix proteins) AEBP1 B4GALT7, B3GALT6, CHST14, DSE Collagens Collagens - Structural proteins: Mechanical resistance and flexibility Burrows, N: The Skin in EDS 5 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Skin Changes in EDS EDS subtype Skin Related Clinical Features Classical Soft, velvety, doughy, and hyperextensible skin; thin (atrophic) scars, especially over bony protuberances; easy bruising, Classical-like Similar to mild classical type but normal scarring. Cardiac-valvular Similar to classical type Vascular Thin , translucent skin , scarring and very easy bruising Hypermobile Less pronounced skin changes Arthrochalasia Hyperextensible and fragile skin with atrophic scars, easy bruising Dermatosparaxis Severe skin fragility, with redundant sagging skin, soft and doughy, easy bruising, Kyphoscoliotic Hyperextensible skin, easy bruising, skin fragility with atrophic scars, follicular keratosis Brittle cornea Soft, velvety skin, translucent skin syndrome Spondylodysplastic Hyperextensible , thin translucent skin, soft and doughy. Single transverse palmar crease Musculocontractural Hyperextensible and fragile skin with atrophic scars, easy bruising, wrinkled palms Myopathic Soft, doughy skin with atrophic scars Periodontal Pretibial hyperpigmented plaques, easy bruising, fragile skin with atrophic scars The 2017 International Classification of the Ehlers–Danlos Syndromes Burrows, N: The Skin in EDS 6 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Diagnostic Criteria of classical EDS (cEDS) Major criteria 1. Skin hyperextensibility and atrophic scarring 2. Generalized joint hypermobility Minor criteria 1. Easy bruising 2. Soft, doughy skin 3. Skin fragility (or traumatic splitting) 4. Molluscoid pseudotumours 5. Subcutaneous spheroids 6. Hernia 7. Epicanthal folds 8. Complications of joint hypermobility(e.g., sprains, luxation/subluxation, pain) 9. Family history of a first degree relative who meets clinical criteria Skin Changes Hyper extensible Fragile ‘stretchy’ + Soft, doughy Subcutaneous Scarring spheroids/spherules Molluscoid pseudotumours Bruising Burrows, N: The Skin in EDS 7 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Cutaneous Hyperextensibility 3cm 3cm >1.5cm 1.5cm Skin Changes Hyper extensible Fragile ‘stretchy’ + Soft, doughy Subcutaneous Scarring spheroids/spherules Molluscoid Bruising pseudotumours Burrows, N: The Skin in EDS 8 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Skin Fragility Skin Changes Hyper extensible Fragile ‘stretchy’ + Atrophic Soft, doughy Subcutaneous Scarring spheroids/spherules Hypertrophic Molluscoid Bruising pseudotumours Haemosiderotic Burrows, N: The Skin in EDS 9 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Scarring Scarring Burrows, N: The Skin in EDS 10 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Scarring Scarring - types Atrophic = Thin Haemosiderotic = bruise like Hypertrophic = Thick Burrows, N: The Skin in EDS 11 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Skin Changes Hyper extensible Fragile ‘stretchy’ + Atrophic Soft, doughy Subcutaneous Scarring spheroids/spherules Hypertrophic Molluscoid Bruising pseudotumours Haemosiderotic Burrows, N: The Skin in EDS 12 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Bruising Bruising Skin Changes Hyper extensible Fragile ‘stretchy’ + Atrophic Soft, doughy Subcutaneous Scarring spheroids/spherules Hypertrophic Molluscoid Bruising pseudotumours Haemosiderotic Burrows, N: The Skin in EDS 13 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Molluscoid pseudotumours Ritelli M et al. (2013) Orphanet J Rare Dis 8:58. Skin Changes Hyper extensible Fragile ‘stretchy’ + Atrophic Soft, doughy Subcutaneous Scarring spheroids/spherules Hypertrophic Molluscoid Bruising pseudotumours Haemosiderotic Burrows, N: The Skin in EDS 14 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Subcutaneous Spheroids 50 yr female Skin laxityAdditional Skin Changes 3yr old with cEDS Lax skin Ritelli et al 2013 Burrows, N: The Skin in EDS 15 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Additional Skin Changes – around eyes Epicanthic folds Floppy eyelids - Méténier’s sign Loose eyelid skin Additional skin changes Follicular prominence over elbows and knees Burrows, N: The Skin in EDS 16 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Additional skin changes Elastosis perforans serpiginosa Striae (stretch marks) Striae 3/40 patients with cEDS - Ritelli et al 2013 7.5% hEDS: Diagnostic criteria 11/62 patients with cEDS Unexplained stretch marks - back, groins, Columbi et al 2017 thighs, breasts and/or abdomen in adolescents, men or prepubertal women 18% without a history of significant gain or loss of body fat or weight Burrows, N: The Skin in EDS 17 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Other features of tissue weakness Piezogenic papules Hypermobile EDS/Hypermobility Spectrum Disorder hEDS POTS / HSD MCAS Burrows, N: The Skin in EDS 18 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Mast Cell Activation Syndrome • Heart related symptoms: rapid pulse (tachycardia), low blood pressure (hypotension) and passing out (syncope). • Skin related symptoms: itching (pruritus), hives (urticaria), swelling (angioedema) and skin turning red (flushing). • Lung related symptoms: wheezing, shortness of breath and harsh noise when breathing (stridor) that occurs with throat swelling. • Gastrointestinal tract symptoms: diarrhoea, nausea with vomiting and crampy abdominal pain. hEDS - MCAS Flushing Urticaria Burrows, N: The Skin in EDS 19 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Rarer EDS subtypes Vascular EDS (vEDS) Major Criteria Minor Criteria Family history of vEDS (+ COL3A1 mutation) Easy bruising confirmed Thin, translucent skin (acrogeria) Arterial rupture at young age Characteristic facial appearance Spontaneous sigmoid colon perforation Hypermobility of small joints Carotid-cavernous fistula Tendon and muscle rupture Uterine rupture Talipes equinovarus (clubfoot) Spontaneous pneumothorax Keratoconus Gingival recession and gingival fragility Varicose veins before the age of 30 years Burrows, N: The Skin in EDS 20 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Translucent Skin Mother Daughter Photographs kindly supplied by patients Bruising • Mother and daughter with vEDS Photographs kindly supplied by patients Burrows, N: The Skin in EDS 21 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Periodontal EDS Very Rare Subtypes of EDS SpEDS – AEPB1- SLC39A13 Related Ritelli M et al. Genes 2019;10;135 mcEDS- CHST14 Brady A et al. Am J Med Genet 175C:70-115 (2017) Dermatosparaxis Burrows, N: The Skin in EDS 22 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Investigations ØThe skin maybe helpful in diagnosis, if there is uncertainty with the genetic testing ØUnfortunately it is not reliable to diagnose hEDS cEDS Electron Microscopy Burrows, N: The Skin in EDS 23 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Skin Management – all the S’s Skin Management – all the S’s • Skin protection Cover sharp edges of furniture and make homes safe to prevent falls Burrows, N: The Skin in EDS 24 EDS Global Learning Conference July 30-August 1, 2019 (Nashville) Skin Management – all the S’s • Skin protection
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