Perthes Disease: Or something else? Differential Diagnosis

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Gaucher disease – genetic disorder with autosomal recessive inheritance; lipid storage disease due to defect in the enzyme beta-glucocerebrosidase, resulting in storage of cerebrosides primarily in the spleen and marrow-containing bones.
  • Ossification disorders (bone formation disorders) in hormonal disorders, unspecified.

Musculoskeletal system and connective tissue (M00-M99).

  • Bacterial coxitis (inflammation of the hip joint).
  • Coxitis fugax (hip flare) – for diagnosis: radiograph: structural disturbance of the femoral head; sonography: effusion; inflammatory parameters (eg, CRP): negative.
  • Femoral head necrosis (actually incorrect: femoral head necrosis) – disease characterized by death of part of the bony head of the femur. (possibly drug-induced).
  • Juvenile idiopathic arthritis (JIA; synonyms: juvenile rheumatoid arthritis (JRA), juvenile chronic arthritis, JCA) – form of arthritis (inflammatory joint disease / joint inflammation) that occurs in children and adolescents.
  • Meyer dysplasia – rare mild epiphyseal dysplasia (malformation at the end of the bone) occurring exclusively at the femoral heads (bilateral/both sides in 50% of cases); the condition is congenital (i.e., congenital), more common in males than females; symptoms include occasional hip joint pain.
  • Osteochondrosis dissecans – circumscribed aseptic bone necrosis below the articular cartilage, which may end with rejection of the affected bone area with the overlying cartilage as a free joint body (joint mouse).
  • Osteomyelitis (bone marrow inflammation).

Neoplasms – tumor diseases (C00-D48)

  • Tumor diseases, unspecified
  • Leukemia (cancer of the blood), unspecified
  • Chondroblastoma – neoplasm originating from the cartilage cells.

Medication

  • Cortisone-induced

Conditions in which bone necrosis also occurs:

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Achondroplasia (synonyms: chondrodysplasia, chondrodystrophia fetalis); common mutation affecting growth of the skeletal system (short-limbedness, achondroplastic short stature/dwarfism); usually sporadic occurrence and autosomal-dominant inheritance in 20% of cases
  • Klinefelter syndrome – genetic disease with mostly sporadic inheritance: numerical chromosomal aberration (aneuploidy) of the sex chromosomes (gonosomal anomaly), which occurs only in boys or Men occurs; in the majority of cases characterized by a supernumerary X chromosome (47, XXY); clinical picture: large stature and testicular hypoplasia (small testis), caused by hypogonadotropic hypogonadism (gonadal hypofunction); here usually spontaneous onset of puberty, but poor pubertal progress.
  • Trisomy 21 (Down syndrome) – special genomic mutation in humans in which the entire 21st chromosome or parts of it are present in triplicate (trisomy). In addition to physical characteristics considered typical for this syndrome, the cognitive abilities of the affected person are usually impaired; furthermore, there is an increased risk of leukemia.
  • Tricho-rhino-phalangeal syndrome (TRPS; synonym: Langer-Giedion syndrome) – genetic disorder with autosomal dominant inheritance; characterized by the common occurrence of the following symptoms: Underdevelopment, excess skin, multiple (numerous) cartilaginous exostoses (bone growths), characteristic facies (Latin facies “face, countenance”), cone epiphyses, and other abnormalities.

Blood, blood-forming organs – immune system (D50-D90).

  • Hemophilia (hemophilia)
  • Sickle cell anemia (med.: drepanocytosis; also sickle cell anemia, sickle cell anemia) – genetic disease with autosomal recessive inheritance affecting erythrocytes (red blood cells); it belongs to the group of hemoglobinopathies (disorders of hemoglobin; formation of an irregular hemoglobin called sickle cell hemoglobin, HbS).
  • Thalassemia – autosomal recessive hereditary synthesis disorder of the alpha or beta chains of the protein portion (globin) in hemoglobin (hemoglobinopathy/diseases resulting from impaired formation of hemoglobin).
    • Α-Thalassemia (HbH disease, hydrops fetalis/generalized fluid accumulation); incidence: mostly in Southeast Asians.
    • β-Thalassemia: most common monogenetic disorder worldwide; incidence: People from Mediterranean countries, Middle East, Afghanistan, India and Southeast Asia.

Endocrine, nutritional, and metabolic diseases (E00-E90).