[MIM 225 410]

(Ehlers-Danlos syndrome type VIIc)

Extremely rare. Autosomal recessive transmission  of a mutation of the ADAMTS2 gene (5q35.3) encoding for procollagen I peptidase, a metalloproteinase. Cutaneous form of the Ehlers Danlos syndrome, similar to the dermatosparaxis of the cattle but also  sheep, cat or dog. The lack of procollagen peptidase, which transforms procollagen I, II and III in collagen I, II and III. It results in a lack of collagen and an accumulation of procollagen that assembles into fibrils ribbons. At electron microscopy, the section of these fibrils presents the pathognomonic appearance of hieroglyphics. The skin appears to be more affected than the other tissues  containing collagen (tendons, vessels): there may be alternative ways to transform of the procollagenes I and II in collagen at the level of these tissues

Clinical picture:

-        facial dysmorphism: epicanthic folds, downslanting palpebral fissures, blepharochalasis,  flabby and drooping cheeks; micrognathia, gingival hyperplasia ; a moderate hyperlaxity of the temporomandibular joint  is present, which can lead to subluxations of the jaw and, if these episodes are frequent, progressive ankylosis with decrease in mouth opening.

-        soft, velvety hyperextensible skin that breaks very easily; redundant skin at the level of wrinkles (wrists, elbows, knees, groins). The scars are widened

-        umbilical hernia at birth

-        blue-gray sclerae

-        short stature, short hands and feet, stubby fingers covered with excessive and wrinkled skin

-        sensitive teeth (localized defect of dentin)

-        risk of rupture of internal organs: bladder (diverticula), diaphragm

-        joint hyperlaxity is not obvious in the first years of life, but becomes more important with age

Anesthetic implications:

position carefully. Risk of difficult intubation. Delayed wound healing.

Extreme fragility of the skin and mucous membranes: avoid any friction or shear as this causes tearing. In practice:

• NO adhesive except Tacker ® and paper tape type Micropore ®
• Use ECG electrodes the sticky part of which is cut off unless the skin is protected with Mepiform ® Mepilex ® or Mepitel ®.
• anticipate difficult venous access: fragile veins; be cautious with the tourniquet
• non-invasive blood pressure: interpose a layer of tissue between the skin and the cuff and preferably use a manual mode of inflation
• regarding the electrocautery, interpose a hydrophilic gel plate (ideally the material used to ensure good skin conduction during defibrillation: 3M ® Defib pads 2346N or 2345N) between the skin and the dispersive electroplate pasted on it. Otherwise use a (metallic) non-adhesive dispersive electroplate or a bipolar coagulation.
• if possible: IV induction; in case of inhalation induction,  use an oral premedication  to avoid agitation; cover the facial mask  with  gauze soaked with KY® gel; careful lubrication of the laryngoscope blade, laryngeal mask etc. Soft atraumatic intubation avoiding damage to the lips and pharynx.
• fragile teeth
• In case of central venous access: echoguided puncture and avoid dilating the subcutaneous path and the vein wall
• avoid local infiltration with local anaesthetics (e.g., for dental care) the mechanical effect of which is similar to a shear stress
• use non-adhesive dressings like Aquacel® Mepiform® or Mepitel®

References : 

-        Dubois PE, Veyckemans F, Ledent MM, Michel M, Clément de Cléty S. 
Anaesthetic management of a child with type VIIc Ehlers-Danlos syndrome. 
Acta Anaesthesiol Belg 2001; 52:21-4.

-        Lapière CM, Nusgens BV. 
La maladie d’Ehlers-Danlos type VIIc ou dermatsparaxie humaine : le produit d’une union fructueuse des sciences dites fondamentales avec la clinique humaine et vétérinaire.  
Bull Mem Acad R Med Belg 1994 ; 149 : 228-34 et 35-6.

-         Colige A, Sieron AL, Li-S-W, Schwarze U et al. 
Human Ehlers-Danlos syndrome type VIIc and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. 
Am J Hum Genet 1999; 65: 308-17.

-         Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A.
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIc). 
Am J Hum Genet 2004; 131A:18-28.

Updated: August 2019