Two Cases of Traumatic Wounds in Ehlers-Danlos Syndrome Patients

Abstract and Introduction

Abstract

The authors present two cases in which traumatic wounds in patients with Ehlers-Danlos syndrome (EDS) were successfully treated with a bioengineered skin equivalent (BSE) (Apligraf^®, Organogenesis, Canton, Massachusetts). Due to defects in collagen metabolism, it has been reported that patients with EDS have poor wound healing and unsightly scarring. Considering this, it is important to look into alternate ways to improve the healing process while avoiding donor site morbidity. The authors have demonstrated, in these two cases, the successful use of BSE as an option for use in the healing of wounds in patients with this syndrome.

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders with an incidence of approximately 1 in 5000 births.^[1] It is associated with a defect in collagen formation leading to skin fragility and hyperelasticity of skin, hypermobility of joints, and poor wound healing with scarring.^[2,3] It has been subdivided into separate types according to the predominant areas affected and the degree of abnormality ( Table 1 ). Collagen plays an important part in the wound healing process, and patients with EDS have suboptimal wound healing and multiple complications following surgery secondary to defects in collagen
metabolism.^[4,5,6]

The authors treated two patients with traumatic wounds of the lower extremities with a bioengineered skin equivalent (BSE) (Apligraf^®, Organogenesis, Canton, Massachusetts). Both of these patients failed to heal their wounds normally with standard wound care. BSE consists of bovine collagen and human fibroblasts and keratinocytes.^[7] The fibroblasts and keratinocytes in BSE produce growth factors and antibiotic peptides creating a physiological microenvironment that can stimulate wound healing.^[8]

Table 1. Table 1. Subtypes of Ehlers-Danlos syndrome (EDS) ^[3,11,12]
Type	Synonym	Molecular Defect	Genetics	Clinical Features	Diagnosis	Skin/Wound
I	Gravis	COL5A1 in some/ Unknown	AD	Hyperelastic fragile skin, lax joints	Clinical	Severe skin splitting tendency, wide gaping scars, moderate bruising tendency, subcutaneous spheroid and molluscoid pseudotumors.
II	Mitis	Unknown	AD	Mild version of type I	Clinical	Moderate skin splitting tendency, less scarring, mild bruising, mild spheroid, molluscoid pseudotumors.
III	Hypermobile	Unknown	AD	Gross laxity of both large and small joints	Clinical	Limited skin splitting, little scarring, spheroids and pseudotumors uncommon.
IV	Vascular	COL3A1	AD (recessive variants)	Arterial, bowel, and uterine rupture	Fibroblast culture	Skin thin, pale, prominent veins, gross bruising tendency with minor trauma, dark pigmented scars.
V	X-linked	Unknown	X-linked	Similar to type II	Clinical	Skin splitting, scarring, and bruising moderate, spheroids and pseudotumors present.
VI	Ocular- scoliotic	Lysyl hydroxylase	AR	Similar to type I with eye and spine involvement	Lysyl hydroxylase activity assay	Similar to type I.
VII	Arthrochalasis Multiplex Congenita	COL1A1 Procollagen N-Proteinase	AD (recessive variants)	Multiple joint laxity and dislocations	Biochemical analysis	Skin manifestations mild.
VIII	Periodontosis	COL1A1 in some/Unknown	AD	Early teeth loss, mild cutaneous and joint laxity	Clinical	Skin fragility, pigmented scars over bony prominences.
IX	Cutaneous Laxa			No longer considered EDS
X	Fibronectin defect	Fibronectin	AR	Similar to type II	Biochemical	Skin thin, extensible, and fragile with scarring and bruising tendency.

Table 1. Table 1. Subtypes of Ehlers-Danlos syndrome (EDS) ^[3,11,12]

Type

Synonym

Molecular
Defect

Genetics

Clinical Features

Diagnosis

Skin/Wound

Gravis

COL5A1 in some/
Unknown

Hyperelastic fragile skin, lax joints

Clinical

Severe skin splitting tendency, wide gaping scars, moderate bruising tendency, subcutaneous spheroid and molluscoid pseudotumors.

Mitis

Unknown

Mild version of type I

Clinical

Moderate skin splitting tendency, less scarring, mild bruising, mild spheroid, molluscoid pseudotumors.

III

Hypermobile

Unknown

Gross laxity of both large and small joints

Clinical

Limited skin splitting, little scarring, spheroids and pseudotumors uncommon.

Vascular

COL3A1

AD
(recessive variants)

Arterial, bowel, and uterine rupture

Fibroblast culture

Skin thin, pale, prominent veins, gross bruising tendency with minor trauma, dark pigmented scars.

X-linked

Unknown

X-linked

Similar to type II

Clinical

Skin splitting, scarring, and bruising moderate, spheroids and pseudotumors present.

Ocular-
scoliotic

Lysyl
hydroxylase

Similar to type I with eye and spine involvement

Lysyl hydroxylase activity assay

Similar to type I.

VII

Arthrochalasis
Multiplex
Congenita

COL1A1
Procollagen
N-Proteinase

AD
(recessive
variants)

Multiple joint laxity and dislocations

Biochemical analysis

Skin manifestations mild.

VIII

Periodontosis

COL1A1 in some/Unknown

Early teeth loss, mild cutaneous and joint laxity

Clinical

Skin fragility, pigmented scars over bony prominences.

Cutaneous
Laxa

No longer considered EDS

Fibronectin
defect

Fibronectin

Similar to type II

Biochemical

Skin thin, extensible, and fragile with scarring and bruising tendency.

Table 1. Subtypes of Ehlers-Danlos syndrome (EDS) ^[3,11,12]
Type	Synonym	Molecular Defect	Genetics	Clinical Features	Diagnosis	Skin/Wound
I	Gravis	COL5A1 in some/ Unknown	AD	Hyperelastic fragile skin, lax joints	Clinical	Severe skin splitting tendency, wide gaping scars, moderate bruising tendency, subcutaneous spheroid and molluscoid pseudotumors.
II	Mitis	Unknown	AD	Mild version of type I	Clinical	Moderate skin splitting tendency, less scarring, mild bruising, mild spheroid, molluscoid pseudotumors.
III	Hypermobile	Unknown	AD	Gross laxity of both large and small joints	Clinical	Limited skin splitting, little scarring, spheroids and pseudotumors uncommon.
IV	Vascular	COL3A1	AD (recessive variants)	Arterial, bowel, and uterine rupture	Fibroblast culture	Skin thin, pale, prominent veins, gross bruising tendency with minor trauma, dark pigmented scars.
V	X-linked	Unknown	X-linked	Similar to type II	Clinical	Skin splitting, scarring, and bruising moderate, spheroids and pseudotumors present.
VI	Ocular- scoliotic	Lysyl hydroxylase	AR	Similar to type I with eye and spine involvement	Lysyl hydroxylase activity assay	Similar to type I.
VII	Arthrochalasis Multiplex Congenita	COL1A1 Procollagen N-Proteinase	AD (recessive variants)	Multiple joint laxity and dislocations	Biochemical analysis	Skin manifestations mild.
VIII	Periodontosis	COL1A1 in some/Unknown	AD	Early teeth loss, mild cutaneous and joint laxity	Clinical	Skin fragility, pigmented scars over bony prominences.
IX	Cutaneous Laxa			No longer considered EDS
X	Fibronectin defect	Fibronectin	AR	Similar to type II	Biochemical	Skin thin, extensible, and fragile with scarring and bruising tendency.

Table 1. Subtypes of Ehlers-Danlos syndrome (EDS) ^[3,11,12]

Type

Synonym

Molecular
Defect

Genetics

Clinical Features

Diagnosis

Skin/Wound

Gravis

COL5A1 in some/
Unknown

Hyperelastic fragile skin, lax joints

Clinical

Severe skin splitting tendency, wide gaping scars, moderate bruising tendency, subcutaneous spheroid and molluscoid pseudotumors.

Mitis

Unknown

Mild version of type I

Clinical

Moderate skin splitting tendency, less scarring, mild bruising, mild spheroid, molluscoid pseudotumors.

III

Hypermobile

Unknown

Gross laxity of both large and small joints

Clinical

Limited skin splitting, little scarring, spheroids and pseudotumors uncommon.

Vascular

COL3A1

AD
(recessive variants)

Arterial, bowel, and uterine rupture

Fibroblast culture

Skin thin, pale, prominent veins, gross bruising tendency with minor trauma, dark pigmented scars.

X-linked

Unknown

X-linked

Similar to type II

Clinical

Skin splitting, scarring, and bruising moderate, spheroids and pseudotumors present.

Ocular-
scoliotic

Lysyl
hydroxylase

Similar to type I with eye and spine involvement

Lysyl hydroxylase activity assay

Similar to type I.

VII

Arthrochalasis
Multiplex
Congenita

COL1A1
Procollagen
N-Proteinase

AD
(recessive
variants)

Multiple joint laxity and dislocations

Biochemical analysis

Skin manifestations mild.

VIII

Periodontosis

COL1A1 in some/Unknown

Early teeth loss, mild cutaneous and joint laxity

Clinical

Skin fragility, pigmented scars over bony prominences.

Cutaneous
Laxa

No longer considered EDS

Fibronectin
defect

Fibronectin

Similar to type II

Biochemical

Skin thin, extensible, and fragile with scarring and bruising tendency.

Two Cases of Traumatic Wounds in Patients With Ehlers-Danlos Syndrome Successfully Treated With a Bioengineered Skin Equivalent

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Two Cases of Traumatic Wounds in Patients With Ehlers-Danlos Syndrome Successfully Treated With a Bioengineered Skin Equivalent

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