DermatologyTier 2Disease (DEADMAN)

Cutaneous manifestations of inherited disorders - Ehlers–Danlos syndrome

Description

Ehlers-Danlos syndrome produces characteristic cutaneous findings across its subtypes - skin hyperextensibility, fragility, and abnormal scarring - reflecting the underlying collagen defect (see hereditary connective tissue disorders for the full disease detail; this note focuses on the specific dermatological findings)

Cutaneous findings vary by EDS subtype, with vascular EDS showing the most distinctive and clinically significant skin findings given their association with the highest risk of catastrophic vascular/organ complications

Defective collagen structure/cross-linking reduces the tensile strength and elasticity of dermal connective tissue - producing skin that stretches excessively (hyperextensibility), tears/bruises easily (fragility), and heals with characteristic thin, atrophic ("cigarette paper") scarring rather than normal robust scar formation

Skin hyperextensibility - assessed by the Beighton-adjacent skin extensibility manoeuvres; easy bruising, often disproportionate to trauma severity; atrophic "cigarette paper" scarring, particularly over bony prominences (knees, elbows, shins)
Vascular EDS specifically: thin, translucent skin with visible underlying vasculature, and a distinctive "acrogeric" appearance (aged-looking skin over the hands/feet) - these skin findings are an important clinical clue given the high catastrophic complication risk in this subtype

Wound care requires modification (careful, tension-minimising suturing technique, extended suture retention time) given the impaired wound healing/scarring - standard suturing approaches can result in poor cosmetic and functional outcomes given the tissue fragility
Recognition of the vascular EDS skin phenotype specifically should prompt referral for genetic confirmation and vascular surveillance given the high complication risk, distinct from the other EDS subtypes

Joint hypermobility, vascular/organ rupture risk (vascular EDS specifically), poor wound healing, easy bruising as a potential non-accidental injury mimic

The specific skin phenotype (thin translucent skin with visible vasculature, acrogeric appearance) can be the clinical clue that first raises suspicion of vascular EDS specifically - recognising this pattern is important given the markedly different, more urgent management implications compared with the more common, less severe EDS subtypes

6 more sections, plus exam facts

Premium unlocks every note across every specialty, and the full exam fact library behind it.