Camurati–Engelmann disease: Difference between revisions

From WikiMD's Wellness Encyclopedia

← Older edit
No edit summary
CSV import
 
Line 1: Line 1:
{{SI}}
{{Infobox medical condition
| name            = Camurati–Engelmann disease
| image          = [[File:Autosomal_dominant_-_en.svg|200px]]
| caption        = Camurati–Engelmann disease is inherited in an [[autosomal dominant]] pattern.
| synonyms        = Progressive diaphyseal dysplasia
| pronounce      =
| specialty      = [[Medical genetics]]
| symptoms        = [[Bone pain]], [[muscle weakness]], [[fatigue]], [[headache]], [[hearing loss]]
| onset          = Childhood
| duration        = Lifelong
| causes          = Mutations in the [[TGFB1]] gene
| risks          = Family history
| diagnosis      = [[Genetic testing]], [[X-ray]]
| differential    = [[Osteopetrosis]], [[Paget's disease of bone]]
| treatment      = [[Corticosteroids]], [[pain management]]
| medication      = [[Corticosteroids]]
| frequency      = Rare
| deaths          =
}}
{{redirect|Engelmann syndrome|the neuro-genetic disorder|Angelman syndrome}}
{{redirect|Engelmann syndrome|the neuro-genetic disorder|Angelman syndrome}}
{{Short description|Rare genetic disorder affecting bones and muscles}}
{{Short description|Rare genetic disorder affecting bones and muscles}}
[[File:Autosomal_dominant_-_en.svg|Autosomal dominant|thumb]]
[[File:Autosomal_dominant_-_en.svg|Autosomal dominant|left|thumb]]
'''Camurati–Engelmann disease''' ('''CED''') is a rare genetic disorder that primarily affects the bones and muscles, leading to progressive bone thickening, muscle weakness, and chronic pain. The condition is characterized by abnormal bone remodeling, particularly in the long bones and skull, resulting in excessive bone growth (hyperostosis) and increased bone density (osteosclerosis).
'''Camurati–Engelmann disease''' ('''CED''') is a rare genetic disorder that primarily affects the bones and muscles, leading to progressive bone thickening, muscle weakness, and chronic pain. The condition is characterized by abnormal bone remodeling, particularly in the long bones and skull, resulting in excessive bone growth (hyperostosis) and increased bone density (osteosclerosis).
 
CED is an autosomal dominant disorder caused by mutations in the '''TGFB1 gene''', which encodes the transforming growth factor-beta 1 (TGF-β1) protein. This protein plays a crucial role in bone formation, inflammation, and tissue repair.
CED is an autosomal dominant disorder caused by mutations in the '''TGFB1 gene''', which encodes the transforming growth factor-beta 1 (TGF-β1) protein. This protein plays a crucial role in bone formation, inflammation, and tissue repair.
 
== '''Causes and Genetic Basis''' ==
== '''Causes and Genetic Basis''' ==
Camurati–Engelmann disease is caused by mutations in the TGFB1 gene, which disrupts the normal function of TGF-β1, a cytokine involved in:
Camurati–Engelmann disease is caused by mutations in the TGFB1 gene, which disrupts the normal function of TGF-Œ≤1, a cytokine involved in:
* Bone growth and remodeling
* Bone growth and remodeling
* Regulation of inflammation
* Regulation of inflammation
* Tissue repair and immune system function
* Tissue repair and immune system function
The disease follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing it on to their offspring. Some cases, however, may arise from spontaneous mutations rather than being inherited.
The disease follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing it on to their offspring. Some cases, however, may arise from spontaneous mutations rather than being inherited.
== '''Clinical Features and Symptoms''' ==
== '''Clinical Features and Symptoms''' ==
The symptoms of CED vary among individuals and worsen with age. The most common symptoms include:
The symptoms of CED vary among individuals and worsen with age. The most common symptoms include:
=== Bone Abnormalities ===
=== Bone Abnormalities ===
* Thickened bones (hyperostosis) – most notably in the long bones (femur, tibia, humerus) and skull.
* Thickened bones (hyperostosis) – most notably in the long bones (femur, tibia, humerus) and skull.
Line 22: Line 37:
* Pain and tenderness – particularly in the legs, arms, and skull.
* Pain and tenderness – particularly in the legs, arms, and skull.
* Abnormal gait – due to leg pain and muscle weakness.
* Abnormal gait – due to leg pain and muscle weakness.
=== Muscle and Neurological Symptoms ===
=== Muscle and Neurological Symptoms ===
* Muscle weakness – especially in the legs and arms.
* Muscle weakness – especially in the legs and arms.
Line 30: Line 44:
* Hearing loss
* Hearing loss
* Vision problems
* Vision problems
=== Other Symptoms ===
=== Other Symptoms ===
* Delayed puberty – Some individuals experience hormonal imbalances.
* Delayed puberty – Some individuals experience hormonal imbalances.
* Weight loss and failure to thrive – particularly in childhood.
* Weight loss and failure to thrive – particularly in childhood.
* Joint stiffness – due to bone overgrowth affecting mobility.
* Joint stiffness – due to bone overgrowth affecting mobility.
== '''Diagnosis and Imaging''' ==
== '''Diagnosis and Imaging''' ==
Diagnosing Camurati–Engelmann disease requires a combination of clinical evaluation, imaging studies, and genetic testing.
Diagnosing Camurati–Engelmann disease requires a combination of clinical evaluation, imaging studies, and genetic testing.
=== Radiographic Features ===
=== Radiographic Features ===
X-rays and CT scans typically reveal:
X-rays and CT scans typically reveal:
Line 44: Line 55:
* Increased bone density in the skull, pelvis, and vertebrae.
* Increased bone density in the skull, pelvis, and vertebrae.
* Narrowing of the bone marrow cavity, which may lead to reduced blood cell production.
* Narrowing of the bone marrow cavity, which may lead to reduced blood cell production.
=== Genetic Testing ===
=== Genetic Testing ===
* Identifies mutations in the TGFB1 gene, confirming the diagnosis.
* Identifies mutations in the TGFB1 gene, confirming the diagnosis.
* Helps in family screening for inherited cases.
* Helps in family screening for inherited cases.
== '''Treatment and Management''' ==
== '''Treatment and Management''' ==
Currently, there is no cure for Camurati–Engelmann disease, but treatment focuses on symptom management and improving quality of life.
Currently, there is no cure for Camurati–Engelmann disease, but treatment focuses on symptom management and improving quality of life.
=== Pain Management ===
=== Pain Management ===
* Nonsteroidal anti-inflammatory drugs (NSAIDs) – such as ibuprofen or naproxen, help reduce bone pain.
* Nonsteroidal anti-inflammatory drugs (NSAIDs) – such as ibuprofen or naproxen, help reduce bone pain.
* Corticosteroids (e.g., prednisone) – can be used for severe cases to decrease inflammation and pain.
* Corticosteroids (e.g., prednisone) – can be used for severe cases to decrease inflammation and pain.
* Bisphosphonates – used in some cases to help regulate bone turnover.
* Bisphosphonates – used in some cases to help regulate bone turnover.
=== Physical Therapy and Supportive Care ===
=== Physical Therapy and Supportive Care ===
* Physical therapy – strengthens muscles and improves mobility.
* Physical therapy – strengthens muscles and improves mobility.
* Orthopedic interventions – in severe cases, surgery may be needed to correct bone deformities.
* Orthopedic interventions – in severe cases, surgery may be needed to correct bone deformities.
* Hearing aids – for those experiencing hearing loss due to skull thickening.
* Hearing aids – for those experiencing hearing loss due to skull thickening.
=== Hormonal and Growth Support ===
=== Hormonal and Growth Support ===
* Growth hormone therapy – may be considered in cases of delayed puberty or stunted growth.
* Growth hormone therapy – may be considered in cases of delayed puberty or stunted growth.
* Dietary support – ensuring adequate calcium and vitamin D for bone health.
* Dietary support – ensuring adequate calcium and vitamin D for bone health.
== '''Prognosis and Long-Term Outlook''' ==
== '''Prognosis and Long-Term Outlook''' ==
The severity of Camurati–Engelmann disease varies widely. Some individuals experience mild symptoms, while others may have severe mobility restrictions and chronic pain. With proper management, many individuals lead normal lives, but progressive bone thickening can cause increasing complications over time.
The severity of Camurati–Engelmann disease varies widely. Some individuals experience mild symptoms, while others may have severe mobility restrictions and chronic pain. With proper management, many individuals lead normal lives, but progressive bone thickening can cause increasing complications over time.
== '''See Also''' ==
== '''See Also''' ==
* '''[[Bone remodeling]]'''
* '''[[Bone remodeling]]'''
Line 75: Line 79:
* '''[[TGFB1 gene mutations]]'''
* '''[[TGFB1 gene mutations]]'''
* '''[[Genetic bone disorders]]'''
* '''[[Genetic bone disorders]]'''
== '''External Links''' ==
== '''External Links''' ==
* [https://rarediseases.org/rare-diseases/camurati-engelmann-disease/ National Organization for Rare Disorders (NORD) - CED]
* [https://rarediseases.org/rare-diseases/camurati-engelmann-disease/ National Organization for Rare Disorders (NORD) - CED]

Latest revision as of 21:12, 4 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Camurati–Engelmann disease
Synonyms Progressive diaphyseal dysplasia
Pronounce
Specialty Medical genetics
Symptoms Bone pain, muscle weakness, fatigue, headache, hearing loss
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Mutations in the TGFB1 gene
Risks Family history
Diagnosis Genetic testing, X-ray
Differential diagnosis Osteopetrosis, Paget's disease of bone
Prevention N/A
Treatment Corticosteroids, pain management
Medication Corticosteroids
Prognosis N/A
Frequency Rare
Deaths


"Engelmann syndrome" redirects here. For the neuro-genetic disorder, see Angelman syndrome.

Rare genetic disorder affecting bones and muscles


Autosomal dominant

Camurati–Engelmann disease (CED) is a rare genetic disorder that primarily affects the bones and muscles, leading to progressive bone thickening, muscle weakness, and chronic pain. The condition is characterized by abnormal bone remodeling, particularly in the long bones and skull, resulting in excessive bone growth (hyperostosis) and increased bone density (osteosclerosis). CED is an autosomal dominant disorder caused by mutations in the TGFB1 gene, which encodes the transforming growth factor-beta 1 (TGF-Œ≤1) protein. This protein plays a crucial role in bone formation, inflammation, and tissue repair.

Causes and Genetic Basis[edit]

Camurati–Engelmann disease is caused by mutations in the TGFB1 gene, which disrupts the normal function of TGF-Œ≤1, a cytokine involved in:

  • Bone growth and remodeling
  • Regulation of inflammation
  • Tissue repair and immune system function

The disease follows an autosomal dominant inheritance pattern, meaning that an affected individual has a 50% chance of passing it on to their offspring. Some cases, however, may arise from spontaneous mutations rather than being inherited.

Clinical Features and Symptoms[edit]

The symptoms of CED vary among individuals and worsen with age. The most common symptoms include:

Bone Abnormalities[edit]

  • Thickened bones (hyperostosis) – most notably in the long bones (femur, tibia, humerus) and skull.
  • Increased bone density (osteosclerosis) – leading to bone stiffness.
  • Pain and tenderness – particularly in the legs, arms, and skull.
  • Abnormal gait – due to leg pain and muscle weakness.

Muscle and Neurological Symptoms[edit]

  • Muscle weakness – especially in the legs and arms.
  • Fatigue – due to chronic pain and muscle inefficiency.
  • Nerve compression – from thickened bones affecting cranial and peripheral nerves, leading to symptoms such as:
  • Headaches
  • Hearing loss
  • Vision problems

Other Symptoms[edit]

  • Delayed puberty – Some individuals experience hormonal imbalances.
  • Weight loss and failure to thrive – particularly in childhood.
  • Joint stiffness – due to bone overgrowth affecting mobility.

Diagnosis and Imaging[edit]

Diagnosing Camurati–Engelmann disease requires a combination of clinical evaluation, imaging studies, and genetic testing.

Radiographic Features[edit]

X-rays and CT scans typically reveal:

  • Thickening of long bones (diaphyseal dysplasia).
  • Increased bone density in the skull, pelvis, and vertebrae.
  • Narrowing of the bone marrow cavity, which may lead to reduced blood cell production.

Genetic Testing[edit]

  • Identifies mutations in the TGFB1 gene, confirming the diagnosis.
  • Helps in family screening for inherited cases.

Treatment and Management[edit]

Currently, there is no cure for Camurati–Engelmann disease, but treatment focuses on symptom management and improving quality of life.

Pain Management[edit]

  • Nonsteroidal anti-inflammatory drugs (NSAIDs) – such as ibuprofen or naproxen, help reduce bone pain.
  • Corticosteroids (e.g., prednisone) – can be used for severe cases to decrease inflammation and pain.
  • Bisphosphonates – used in some cases to help regulate bone turnover.

Physical Therapy and Supportive Care[edit]

  • Physical therapy – strengthens muscles and improves mobility.
  • Orthopedic interventions – in severe cases, surgery may be needed to correct bone deformities.
  • Hearing aids – for those experiencing hearing loss due to skull thickening.

Hormonal and Growth Support[edit]

  • Growth hormone therapy – may be considered in cases of delayed puberty or stunted growth.
  • Dietary support – ensuring adequate calcium and vitamin D for bone health.

Prognosis and Long-Term Outlook[edit]

The severity of Camurati–Engelmann disease varies widely. Some individuals experience mild symptoms, while others may have severe mobility restrictions and chronic pain. With proper management, many individuals lead normal lives, but progressive bone thickening can cause increasing complications over time.

See Also[edit]

External Links[edit]

Osteochondrodysplasias
Osteodysplasia/
osteodystrophy
Chondrodysplasia/
chondrodystrophy
(including dwarfism)


Extracellular ligand disorders
Cytokine
Ephrin
WNT
TGF
Fas ligand


NIH genetic and rare disease info[edit]

Camurati–Engelmann disease is a rare disease.

Rare and genetic diseases

Rare diseases - Camurati–Engelmann disease

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


Genetic disorders relating to deficiencies of transcription factor or coregulators
(1) Basic domains
(2) Zinc finger
DNA-binding domains
(3) Helix-turn-helix domains
3.1
3.2
3.3
3.5
(4) β-Scaffold factors
with minor groove contacts
(0) Other transcription factors




Bone diseases
General
Inflammatory
Degenerative
Neoplastic
Metabolic
This bone disease related article is a stub.


This article is a medical stub. You can help WikiMD by expanding it!
PubMed
Wikipedia
Retrieved from "https://wikimd.com/index.php?title=Camurati–Engelmann_disease&oldid=6544672"