Musculoskeletal Disorders

The parents of a 10-year-old boy of normal intelligence brought him for evaluation because of his tall stature. He was 154 cm tall (3 cm above 97th percentile) and weighed 34.3 kg (50th percentile). He exhibited significant arachnodactyly, with an upper to lower segment ratio of 0.8 and an arm span to height ratio of 1.1. He had a long, angular face with a high arched palate and crowded dentition, ptosis, myopia, superior lens subluxation, pectus excavatum, widely spaced and low-set nipples, grade 2/6 ejection systolic murmur at the left sternal border, midthoracic scoliosis, joint hypermobility, positive thumb sign and wrist sign, and pes planus.

Concerned parents sought evaluation of their 3-year-old daughter, whose developmental milestones were somewhat delayed. The child sat without support at 10 months of age and walked at 17 months of age.

Ten days after ballet practice, a 9-year-old girl noticed a nonpruritic, petechial rash on her lower legs. Swelling of the ankles and knees was also apparent. The patient was afebrile, otherwise healthy, and had no abdominal pain. There was no family history of blood dyscrasias. The patient was taking no medications.

A 46-year-old man complained of “irritation” in the groin of several months' duration.

A 13-year-old girl was notably short and had short fourth metacarpals and metatarsals. She was very mildly mentally retarded.

Bilateral skewfoot in a 7-year-old boy. The deformities were rigid in this child, and there was no improvement with growth.

For the past 3 years, a 17-year-old boy had experienced intermittent pain in the right knee. The pain worsened when he went up and down stairs, ran, jumped, or knelt.

A right parietal cephalhematoma was first noted on this 2-week-old girl 2 days after her birth. Robert P. Blereau, MD of Morgan City, La, explains that a cephalhematoma is caused by bleeding under the outer periosteum of a newborn's skull bone, usually the parietal bone, and becomes evident as a swelling by day 2 or 3 after delivery. The swelling is confined to the involved bone and, therefore, does not go past the suture lines or the midline of the skull.

An 80-year-old man, who could not walk because of a large mass on his right leg, was brought to the emergency department. The mass had been increasing in size on the anterior region of his right thigh for approximately 6 months. The patient also complained of “lumps” that had developed on his extremities during the past 2 months.

Abrupt onset of symmetric inflammatory arthritis and edema, as seen on the dorsum of this 72-year-old man's hand, is characteristic of remitting seronegative symmetric synovitis with pitting edema-or RS3PE. The work-up of this patient was essentially negative for other types of inflammatory arthritides.

This 1-year-old boy has a mild, flexible metatarsus adductus deformity of the right foot.

A mildly painful, nonpruritic rash on the forearms and legs prompted a 42-year-old man to go to the emergency department (ED). The patient noted the rash when he awoke that morning. He had had joint pain and fever for the past 7 days and generalized malaise with chills that began about 3 days earlier. He had no significant medical history.

During a routine preschool examination, it was noted that this 4-year-old boy, who weighed 30.8 kg (68 lb), did not seem to rotate his arms. The child's mother stated that she first noticed this 2 or 3 years earlier but thought it was related to her son's obesity. The youngster appears to function normally; he is able to write and play football and basketball. No other family members are known to be similarly affected.

This neonate was born with a high arched and cleft palate and a small jaw-the result of Pierre Robin syndrome, an autosomal recessive disorder also characterized by micrognathia and pseudomacroglossia.

A 51-year-old man-a 6 ft, 240 lb bodybuilder-presented with long-standing, chronic rotational instability of the left knee as the result of a valgus blow to the joint during a football game 20 years earlier. The patient complained of extreme pain and reported that he felt the tibia sliding around under the left femur.

A 3120-g male infant was born to a 31-year-old gravida II para I mother at 37 weeks' gestation following an uncomplicated pregnancy. There was no history of oligohydramnios, but diminished fetal movements were noted. The infant was born vaginally with complete breech presentation and Apgar scores of 7 and 8 at 1 and 5 minutes, respectively.

The parents of an 18-month-old girl were curious about a depressed area on their daughter's lower back, which had been present at birth. The child was otherwise healthy.

This contorted hand of a 49-year-old man demonstrates Dupuytren's contracture, a disorder first described by Baron Guillaume Dupuytren in 1831. Although the condition may occur as a completely independent abnormality, it is commonly associated with chronic liver disease, diabetes mellitus, epilepsy, palmar fasciitis, carpal tunnel syndrome, rheumatoid arthritis, pulmonary tuberculosis, and alcoholism. This patient had a history of alcohol abuse.

A 76-year-old woman had a 40-year history of rheumatoid arthritis (RA). She had repeatedly refused treatment with disease-modifying drugs, including methotrexate. Nodules began to develop 15 years after the initial diagnosis; they recurred after surgical removal.

The use of preserved artificial tears several times a day provided little relief to this 54-year-old woman with red and painful eyes. The patient had a history of rheumatoid arthritis and dry eye syndrome; the latter is very common in patients with rheumatoid arthritis.

A 65-year-old woman, who was confined to a wheelchair because of severe rheumatoid arthritis, was concerned about nodules that had erupted on her fingers and hands during the previous 3 weeks. Her medical history included colon cancer, chronic renal insufficiency, anemia, and hypertension. The nonpruritic nodules were painful when they began to form under the skin; however, once they erupted, the pain disappeared.

A variety of rheumatic diseases-systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and the vasculitides among them-manifest as “lumps, bumps, and holes” involving the extremities. Each of these diseases works through specific mechanisms on different structures of the skin to produce a distinctive pathology. In doing so, each provides clues to the cause, which the history and physical examination can help confirm.

This 64-year-old woman has had rheumatoid arthritis for 15 years; her hands show classic rheumatic changes. She also had a leg ulcer that had failed to heal in 8 years despite three skin grafts.

Various types of cutaneous lesions may occur in association with RA, including rheumatoid nodules, rheumatoid neutrophilic dermatitis, vasculitis, palpable purpura, and pyoderma gangrenosum. Many of these manifestations-including rheumatoid nodules-are specific for RA. The presence of these nodules is associated with seropositive disease and with a more severe, erosive clinical presentation. The nodules appear in 20% to 30% of patients with RA. Sites of predilection are those subject to shear stress, including the subcutaneous tissues over the extensor aspects of the elbow region, over the sacrum in bedridden persons, and at the pericardial and pleural surfaces.

This 60-year-old man has had rheumatoid arthritis (RA) for 40 years. Typical of progressive, long-standing disease is the deformity seen here in his hands and feet.

Cutaneous and subcutaneous lesions of the extremities may be clues to the presence of rheumatic diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and the vasculitides. The history and physical examination can generally help confirm the cause. Skin biopsy is sometimes necessary for a definitive diagnosis; useful results depend on a technique that gives the depth necessary to see the pathology and proper interpretation of biopsy specimens by an experienced dermatopathologist.

This 20-month-old girl was born to a 28-year-old mother at 38 weeks' gestation. The pregnancy was uncomplicated, and vaginal delivery was normal. The infant sat with support at 10 months of age, sat without support at 12 months, crawled at 13 months, and walked at 18 months. She had not yet begun to talk at 20 months. The child was noted to have frequent laughing episodes and often made flapping movements with her hands.

After this 9-year-old boy complained of “growing too fast” during the past 1 to 2 years, his parents sought medical advice. He had no significant past medical history.

A 56-year-old man who consumed moderate amounts of alcohol was awakened by an intense burning pain in the right great toe; local erythema and edema were also present. Within hours, the pain became excruciating, and the same symptoms developed in the left great toe. Acetaminophen provided no relief. The patient's serum uric acid level was 8.8 mg/dL.

The patient reported that he had noticed the facial eruption a couple of months earlier. On examination, the lesion appeared more plaque-like and dense than is typical of rosacea. The differential diagnosis included lupus, mycosis fungoides, rosacea, and angiosarcoma.