From: The differential diagnosis of children with joint hypermobility: a review of the literature
Type and Inheritance | Major features | Minor features | Laboratory |
---|---|---|---|
Classical AD | Skin hyperextensibility Widened atrophic scars Joint hypermobility | Smooth velvety skin Molluscoid pseudotumors Subcutaneous spheroids Complications of joint hypermobility (sprains, subluxations/dislocations, pes planus) Muscle hypotonia Delayed gross motor development Easy bruising Manifestations of tissue extensibility and fragility†Postoperative hernia Positive family history | Abnormalities in skin collagen under electron microscopy Abnormal collagen type V 30% due to mutation in tenascin |
Hypermobility AD | Skin involvement (hyperextensibility and/or smooth, velvety skin) Generalised joint hypermobility | Recurring joint dislocations Chronic joint/limb pain Positive family history | Â |
Vascular AD | Thin, translucent skin Arterial/intestinal/uterine fragility or rupture Extensive bruising Characteristic facial appearance | Acrogeria Hypermobility of small joints Tendon and muscle rupture Talipes equinovarus Early onset varicose veins Arteriovenous, carotid-cavernous sinus fistula Pneumothorax/pneumohaemothorax Gingival recession Positive family history Sudden death in close relatives | Abnormal type 3 collagen COL3A1 mutation |
Kyphoscoliotic AR | Generalised joint laxity Severe muscle hypotonia at birth Scoliosis at birth, progressive Scleral fragility and rupture of the ocular globe | Tissue fragility, including atrophic scars Easy bruising Arterial rupture Marfan-like habitus Microcornea Radiologically considerable osteopenia Family history | Urinalysis for lysylpyridinoline and hydroxylysylpyridinoline |
Arthrochalasia AD | Severe generalised joint hypermobility with recurrent subluxations Congenital hip dislocation | Skin hyperextensibility Tissue fragility, including atrophic scars Easy bruising Muscle hypotonia Kyphoscoliosis Radiologically mild osteopenia | Skin biopsy and demonstration of abnormal collagen type 1 |
Dermatosparaxis AR | Severe skin fragility Sagging, redundant skin | Soft doughy skin texture Easy bruising Premature rupture of fetal membranes Large hernias (inguinal and umbilical) | Demonstration of abnormal collagen 1 chains in skin |