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Camurati-Engelmann disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Camurati-Engelmann disease

Camurati-Engelmann disease is a rare skeletal disorder characterized by the abnormal thickening of bones in the limbs and skull, leading to pain, muscle weakness, and potential neurological complications.

Overview & Symptoms

Camurati-Engelmann disease is a skeletal condition characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. The degree of bone thickening and the age at which symptoms first appear vary among affected individuals.

Common symptoms and features of the condition include:

  • Limb abnormalities: Bone pain (ranging from mild to severe, often worsening with stress, activity, or cold weather), muscle weakness in the arms and legs, quick fatigue, difficulty standing from a seated position, and an unsteady or waddling walk. Other limb issues include joint deformities (contractures), flat feet, swelling, and redness (erythema).
  • Spinal abnormalities: An abnormal curvature of the spine.
  • Skull and facial changes: An unusually thick skull, which can lead to an abnormally large head (macrocephaly), a prominent forehead, a large lower jaw, and bulging eyes with shallow eye sockets. These changes become more prominent with age.
  • Neurological problems: In about a quarter of affected individuals, the thickened skull increases pressure on the brain or compresses the spinal cord, causing headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis.
  • Rare features: Abnormally long limbs in proportion to height, decreased muscle mass and body fat, delayed teething, frequent cavities, delayed puberty, a shortage of red blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly), thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet.

Frequency

The prevalence of Camurati-Engelmann disease is unknown. More than 300 cases have been reported worldwide.

Causes

Mutations in the TGFB1 gene cause Camurati-Engelmann disease. This gene provides instructions for producing a protein called transforming growth factor beta-1 (TGFβ-1), which regulates cell activities such as growth, division, differentiation, movement, and controlled cell death. TGFβ-1 is highly abundant in skeletal tissues, where it helps regulate the formation and growth of bone and cartilage.

The mutations associated with Camurati-Engelmann disease result in an overly active TGFβ-1 protein. This increased signaling leads to excess bone formation, causing the abnormally thick bones in the limbs and skull that underlie the movement and neurological symptoms of the disorder. Some individuals with the disease do not have an identified mutation in the TGFB1 gene, and in those cases, the cause remains unknown.

Learn more about the gene associated with Camurati-Engelmann disease

  • TGFB1

Inheritance

This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person may inherit the mutation from an affected parent, or the condition may result from a new mutation in people with no family history of the disorder. Some individuals who carry the altered gene never develop symptoms, a phenomenon known as reduced penetrance.

Other Names for This Condition

  • Camurati-Engelmann syndrome
  • CED
  • Diaphyseal dysplasia
  • Diaphyseal hyperostosis
  • Diaphyseal osteosclerosis
  • Engelmann disease
  • PDD
  • Progressive diaphyseal dysplasia

Frequently Asked Questions

Urgent signs include new or worsening headaches, visual changes (blurred vision, double vision), hearing loss, tinnitus, facial weakness, or episodes of dizziness. If any of these develop, especially with a rapid increase in head circumference or new neurological deficits, seek immediate neurologic evaluation; imaging (MRI or CT) may be required to assess bone overgrowth and compression.
Therapy should focus on low‑impact, endurance‑building activities such as swimming or stationary cycling, combined with gentle stretching to prevent contractures. Sessions should be short (15–20 minutes) and frequent, with ample rest to avoid over‑exertion. Use of orthotic devices can support weak joints, and a gradual progression in resistance training helps improve muscle bulk without triggering pain.
Camurati‑Engelmann disease is caused by mutations in the TGFB1 gene and follows an autosomal dominant inheritance pattern. Sequencing of TGFB1 confirms the diagnosis. Once a pathogenic variant is identified, targeted testing can be offered to at‑risk relatives, and prenatal or pre‑implantation genetic diagnosis is possible for families planning future pregnancies. Genetic counseling should discuss variable expressivity, the 50 % transmission risk, and psychosocial implications.
Bisphosphonates (e.g., pamidronate) have been used to reduce bone turnover and pain, though response varies. Low‑dose corticosteroids can sometimes alleviate pain but carry long‑term side effects. Recent case series suggest that angiotensin‑II receptor blockers (e.g., losartan) may modulate TGF‑β signaling and improve symptoms, but these are off‑label and should be prescribed by a specialist familiar with the disease. Physical therapy and targeted strength training are essential adjuncts.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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