More common subtypes autosomal dominant; rare subtypes autosomal recessive.
Prenatal Diagnosis
DNA analysis, if mutation known in family.
Incidence
Combined prevalence for all types approximately 1:5,000 in the world.
Age at Presentation
Birth to adulthood, depending on the type.
Pathogenesis
Classical (formerly types I and II): Prevalence: 1:20,000 to 50,000; AD; mutations in type 1 and type 5 collagen.
Hypermobility (formerly type III): Prevalence: 1:3,000 to 5,000 may be higher as many have mild disease; largely AD but AR forms are possible. Vascular (formerly type IV): Prevalence: 1:100,000 to 250,000; AD; mutations in type 3 and type 1.
Kyphoscoliosis (formerly type VI): Rare; AR; mutation in lysyl hydroxylase (PLOD1) and prolyl isomerase (FKBP14).
Arthrochalasia (formerly type VII A and B): Rare; AD; mutation in type 1 collagen.
Dermatosparaxis (formerly type VII C): Very rare; AR; mutation in procollagen 1-N-proteinase (ADAMTS2).
Key Features
Classical
Skin: Severe, excessive laxity and hyperextensibility, fragility, splitting of the skin; poor wound healing; thin, widened scars (parchment/paper-like) over bony prominences; molluscoid pseudotumors, calcification, and easy bruising.
Joints: Less severe hypermobility; instability and chronic musculoskeletal pain; Frequent joint dislocations and subluxations; joint pain common; early osteoarthritis.
Cardiac: Mitral valve prolapse.
Hypermobility
Skin: Less severe, variable increased elasticity, velvet-like consistency, easy bruising.
Joints: Variable hypermobility, instability, and chronic musculoskeletal pain common. Frequent dislocations, subluxations, and early osteoarthritis.
Periodontal type (formerly type VIII): AD, similar to classical type, periodontal disease, hyperelastic, fragile skin, and C1R/C1S mutations.
Type V: Hyperelastic skin, fissuring, bruising, and scarring.
Type IX: XLR, lysyl oxidase deficiency, and skeletal defects.
Type X: Fibronectin deficiency.
Type XI: Benign hypermobile joint syndrome.
Progeroid type: Loose, elastic skin, slow wound healing and atrophic scars, and hypermobile joints.
Cardiac valvular type: Hypermobile joints and hyperextensible skin and cardiac valve defects.
Differential Diagnosis
Normal spectrum hypermobility, cutis laxa, pseudoxanthoma elasticum, Marfan syndrome (kyphoscoliosis and hypermobility forms), child abuse (easy bruisability, poor wound healing), Loeys-Dietz (vascular), osteogenesis imperfect types I and IV, skeletal dysplasia syndromes, and developmental syndromes of childhood (eg, Fragile-X).
Laboratory Data
Classical and hypermobility types: Diagnosis is clinical, genetic testing is available; Beighton score screening test as an aid for hypermobility.
Vascular, arthrochalasia, and dermatosparaxis types: Studies on cultured skin fibroblasts to detect collagen alterations; special collection media required. DNA-based testing also available.
Kyphoscoliosis type: Urinary enzyme assay.
Management
Multidisciplinary
Dermatology: Children with even mild markers of hypermobility might consider referral for cutaneous evaluation.
Orthopedic surgery/Physical therapy: For all types with joint hypermobility and early intervention for newborns and infants with hypotonia and delayed development of gross motor skills.
Ophthalmology: Monitoring and/or treatment.
Cardiology: Echocardiography to rule out Marfan syndrome.
Vascular surgery: Evaluate for vascular abnormalities.
Wound care: Management of injuries, optimize healing, and minimize scarring.
Prognosis
With the exception vascular type (>80% have a life-threatening complication by 40 years of age), most patients live a normal life with type-associated limitations.
PEARL/WHAT PARENTS ASK
How should we adjust our child’s physical activities? Severe variants may require major restrictions in activity and careful monitoring. However, most children present with mild-to-moderate hypermobility and may participate normally in sports activities or adjust based on pain and/or joint symptoms. Low-impact sports may be safest.
0.4 to 2.7 per 100,000 people; more common in white females.
Age at Presentation
90% of children present between 2 and 14 years of age.
Pathogenesis
Unknown. Increased deposition of collagen and extracellular matrix. Possibly initiated by a vascular injury to multiple processes. Borrelia afzelii infection may be a factor in Europe. US strains are different and are not associated with morphea.
Key Features
Linear morphea is most common form in children; 42% to 67% of childhood cases; 3 variants:
En coup de sabre (ECDS)
Skin: Induration and atrophy of paramedian forehead.*
Musculoskeletal: Underlying muscle and bone atrophy.
Ophthalmologic: Underlying ocular involvement in ~14%, sclerosis of ocular adnexal structures in ~42%, and ~21% anterior uveitis. Ocular involvement indicates a high likelihood of CNS involvement.
Neurologic:
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