= HUTCHINSON-GILFORD SYNDROME

= autosomal recessive inheritance; most commonly in populations with consanguineous marriages (Japanese, Jewish)

Age: shortly after adolescence; M÷F = 1÷1

• characteristic habitus + stature:
  • symmetric retardation of growth
  • absent adolescent growth spurt
  • dwarf with short stature + light body weight
  • spindly extremities with stocky trunk
  • beak-shaped nose + shallow orbits
• premature senescence:
  • birdlike appearance; graying of hair + premature baldness
  • hyperpigmentation; voice alteration; bilateral cataracts
  • diffuse arteriosclerosis; osteoporosis
• scleroderma-like skin changes:
  • atrophic skin + muscles; circumscribed hyperkeratosis
  • telangiectasia; tight skin; cutaneous ulcerations
  • localized soft-tissue calcifications
• endocrine abnormalities:
  • diabetes; hypogonadism
• generalized osteoporosis
• Skull
  • thin cranial vault
  • delayed sutural closure + wormian bones
  • hypoplastic facial bones (maxilla + mandible)
• Chest
  • narrow thorax + slender ribs
  • progressive resorption with fibrous replacement of outer portions of thinned clavicles (HALLMARK)
  • coronary artery + heart valve calcifications with cardiac enlargement
• Extremities & joints
  • short + slender long bones
  • coxa valga
  • valgus of humeral head
  • acroosteolysis of terminal phalanges (occasionally)
  • flexion + extension deformities of toes (hallux valgus, pes planus)
  • excessive degenerative joint disease of major + peripheral joints
  • neurotrophic joint lesions (feet)
  • widespread osteomyelitis + septic arthritis (hands, feet, limbs)
• Soft tissue
  • soft-tissue atrophy of extremities
  • soft-tissue calcifications around bony prominences (ankle, wrist, elbow, knee)
  • peripheral vascular calcifications = premature atherosclerosis

Prognosis: most patients die in their 30s / 40s from complications of arteriosclerosis (myocardial infarction, stroke) or neoplasm (sarcoma, meningioma, thyroid carcinoma)

DDx: Cockayne syndrome (mental retardation, retinal atrophy, deafness, family history)