Appearance in hEDS

Among the most visible and personally significant features of hypermobile Ehlers-Danlos (hEDS) are the changes it can cause in physical appearance. These include skin hyperextensibility, altered texture and elasticity, atypical scarring, unexplained striae (stretch marks), and vascular changes such as easy bruising. While these features are often subtle and variable, they are crucial for clinical recognition and can carry substantial psychosocial weight for affected individuals.

Cutaneous (Skin) Manifestations

Skin Hyperextensibility, Texture, and Elasticity

• Skin in hEDS is typically soft or velvety with mild hyperextensibility.

• Recoil is usually prompt after stretching, distinguishing hEDS from other subtypes.

• Thinner, more hydrated, and more fatty skin than non-hEDS people, but less hyperextensible than in classical EDS.

Scarring Patterns

• Atrophic scarring is present (indented scars that form when the skin is unable to regenerate tissue properly).

• Scars may be shallow or wider than the original wound but typically lack the papery or pigmented appearance seen in other EDS types.

Unexplained Striae (stretch marks)

• Striae in hEDS may occur without weight gain, pregnancy, or endocrine disorders.

• Common in atypical locations like the back, groin, or thighs.

• Can be cosmetically distressing and are underreported in clinical assessments.

Piezogenic Papules (small bumps)

• Soft, skin-colored papules on heels, and sometimes wrists, visible when standing.

• Caused by fat herniation through the dermis due to connective tissue fragility.

• Often bilateral and rarely painful.

• Common in the general population, but more pronounced and numerous in hEDS.

Changes with Aging and Weight Loss

• Skin hyperextensibility and softness may diminish with age due to collagen and elastin changes.

• Scarring may accumulate over time with repeated trauma or surgery.

• Weight loss may increase the visibility of striae and piezogenic papules.

• Thin skin areas may exaggerate dermal features or fat distribution.

Hair Loss and Hair Quality

• While no direct, definitive clinical studies have established hEDS as an independent cause of hair loss, there is a plausible theoretical framework for how the collagen abnormalities alone could impair hair follicle function.

• Most likely, if hair loss occurs in someone with hEDS, it’s due to a combination of subtle, compounding factors related to tissue fragility, microcirculation, ECM disruption, and mechanical stress.

• Observed hair loss in hEDS patients could also be secondary to

  • Nutritional deficiencies

  • Comorbid conditions (e.g., thyroid disorders, mast cell activation)

  • Psychosocial stress

Body Size, Composition, and Fat Distribution

Marfanoid Habitus (tall, slim body type) and Muscle Composition

• A marfanoid habitus (tall, slender limbs) may be observed but is not universal.

• DXA and pQCT studies show

  • Lower muscle mass and density in hEDS individuals

  • Lower bone mineral content compared to controls

  • Normal fat percentage and distribution

Dermal Thickness and Subcutaneous Tissue

• High-frequency ultrasound reveals

  • Thinner dermis in areas like feet and thorax

  • Potential for increased visibility of veins, tendons, and subcutaneous fat

• Thinner dermis may contribute to perceptions of fragility or translucency.

Visible Vascular Manifestations

Easy Bruising

• Common and often disproportionate to trauma.

• Large, persistent ecchymoses (large, flat skin bruises from bleeding under the skin) often appear in unusual locations.

• Attributed to fragile capillaries and perivascular collagen deficits.

• Laboratory tests are usually normal, though capillary fragility may be revealed through Hess testing.

Empirically Observed Vascular Features in hEDS

• Prominent or visible veins (especially on hands, arms, chest, and legs)

  • Commonly reported in individuals with connective tissue laxity.

  • May be exacerbated by thin skin, low subcutaneous fat, or orthostatic pooling.

• Flushing, mottling, or color changes (e.g., acrocyanosis, livedo reticularis)

  • Frequently reported in patients with dysautonomia, especially POTS.

  • Can include bluish, reddish, or purplish discoloration of hands, feet, or limbs.

  • May change with position (e.g., standing, exertion, or temperature).

• Dependent rubor

  • Red or purple discoloration in the feet and legs when standing.

  • Linked to blood pooling due to venous insufficiency or dysautonomia.

• Telangiectasias (visible small capillaries)

  • Occasionally reported in hEDS patients.

  • May be secondary to skin fragility or comorbid conditions like mast cell activation syndrome (MCAS).

• Frequent subconjunctival hemorrhages

  • Small bleeds in the whites of the eyes without clear trauma.

  • Possibly related to capillary fragility.

Theoretically Possible or Anecdotally Reported Vascular Features

• Varicose veins or early-onset venous insufficiency

  • Not well studied in hEDS specifically but may arise due to vein wall laxity.

  • May overlap with pelvic congestion syndrome in some individuals.

• Capillary fragility leading to petechiae or small hematomas

  • Especially after minor trauma or pressure (e.g., BP cuffs, elastic bands).

  • Sometimes confused with vasculitis.

• Visible vascular pulsations or carotid prominence

  • In thin individuals with connective tissue disorders, vessel contours may be more noticeable.

• Aneurysmal dilatation of superficial vessels (rare)

  • No documented systemic risk of arterial aneurysms in hEDS (unlike vEDS), but theoretical concerns exist for focal dilation of venous or superficial arterial structures.

Other Relevant Considerations

• Autonomic dysfunction can significantly alter vascular tone, causing visible changes in circulation (e.g., pallor, flushing, cold extremities).

• Skin translucency, while less marked in hEDS than in vascular EDS, can still make underlying veins more noticeable.

Cosmetic and Aesthetic Treatments

• There is a lack of large, prospective studies specifically addressing long-term cosmetic outcomes in hEDS.

• Most available data are extrapolated from small case series or from studies in broader connective tissue disease populations.

• Beauty treatments such as dermal fillers, botulinum toxin (Botox), facelifts, and skin removal procedures can generally be performed safely in individuals with hEDS.

• The main risks include:

  • Increased bruising due to fragile capillaries

  • Potential for widened or atrophic scarring

• Individualized assessment and shared decision-making are essential to balance cosmetic goals with realistic outcomes.

• Pre- and post-procedural planning should consider:

  • Gentle technique to minimize trauma

  • Use of compressive or cooling strategies to reduce bruising

  • Adequate wound support and healing time

• Psychosocial support and patient education are important to set expectations and provide emotional reassurance.

Summary Table: Selected Features and Visibility

Theoretical or Emerging Mechanisms

• Fascial remodeling (structural changes in connective tissue over time) and altered myofibroblast activity (abnormal function of muscle-like cells involved in tissue repair and tension) may cause visible soft tissue contour changes or local thickening.

• Extracellular matrix disorganization (Breakdown of tissue-supporting structure) may lead to localized fat loss or redistribution (e.g., mild lipoatrophy).

• Chronic low-grade inflammation and oxidative stress could accelerate skin aging or contribute to pigmentary changes.

These processes remain theoretical or partially supported by emerging histological and cellular studies.

Patient-Reported and Qualitative Perspectives

• Patients often report

  • Feeling self-conscious about visible bruising, scarring, or striae

  • Misattribution of symptoms by healthcare providers

  • Difficulty or embarrassment explaining their visible symptoms to others

• These appearance-related concerns can lead to

  • Embarrassment

  • Avoidance of certain clothing or social situations

  • Social withdrawal

• Textural changes and papules, even when subtle, may significantly affect self-image.

Longitudinal Changes

• No large studies track visible changes over time in hEDS.

• Existing data suggest

  • Muscle mass deficits persist into older adulthood

  • Cross-sectional data confirm thinner skin and normal fat levels

• Some features, such as scarring or skin laxity, may accumulate gradually.

• Long-term changes in appearance remain an under-researched area.

Psychosocial Impact

• Visible appearance changes significantly affect

  • Self-esteem

  • Body image

  • Social comfort and relationships

• Common psychological reactions include

  • Social anxiety

  • Stigma

  • Avoidance behaviors

• Psychological support, especially CBT, can help patients cope with visibility-related distress.

Management Strategies

• Multidisciplinary care is recommended

  • Psychological support (CBT, peer support)

  • Self-management and education

  • Occupational and physical therapy to address function

• Social support and clinical validation are key to reducing stigma and improving quality of life.

• Medications may be indicated for coexisting psychiatric symptoms when appropriate.

Summary

Though not always immediately apparent, hypermobile Ehlers-Danlos syndrome can influence physical appearance in a number of distinct ways. Individuals with hEDS often exhibit soft or velvety skin, mild hyperextensibility, changes in skin appearance, and atrophic or widened scars that may accumulate with repeated injuries. Unexplained striae and piezogenic papules are also relatively common, particularly during adolescence or after weight changes, while aging may diminish skin elasticity and unmask underlying vascular structures. Unlike in other EDS subtypes, the skin is typically less fragile and heals more reliably, though easy bruising remains a frequent and visible concern. Body composition in hEDS is often characterized by reduced muscle mass and thinner dermal layers, occasionally contributing to a slender or “marfanoid” appearance. While not all features are visible or diagnostically definitive, their presence can have a profound psychological effect, impacting body image, social behavior, and self-esteem. Management should include not only medical and dermatologic care but also psychological support and patient education to help individuals navigate the appearance-related challenges associated with hEDS.