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Ligamentary structure of the base of the nail.

The authors report the results of 115 dissections of the base of the distal phalanx of fingers and toes. In 85% of cases including hypoplastic supernumerary digits, there is a connective ligament-like structure. It is a dorsal expansion of the lateral ligament of the distal inter-phalangeal joint arising from the intermediate phalanx and ending in the matrix and the lunula. This ligament may have a role in biomechanical strains on the nail. It can explain some dystrophic nails associated with some malpositioned joints in fingers or toes.

Fingers↗

Evaluation and management of toe fractures.

Fractures of the toe are one of the most common lower extremity fractures diagnosed by family physicians. Toe fractures most frequently are caused by a crushing injury or axial force such as stubbing a toe. Joint hyperextension and stress fractures are less common. Most patients have point tenderness at the fracture site or pain with gentle axial loading of the digit. Anteroposterior and oblique radiographs generally are most useful for identifying fractures, determining displacement, and evaluating adjacent phalanges and digits. Referral is indicated in patients with circulatory compromise, open fractures, significant soft tissue injury, fracture-dislocations, displaced intra-articular fractures, or fractures of the first toe that are unstable or involve more than 25 percent of the joint surface. Most children with fractures of the physis should be referred, but children with selected nondisplaced Salter-Harris types I and II fractures may be treated by family physicians. Stable, nondisplaced toe fractures should be treated with buddy taping and a rigid-sole shoe to limit joint movement. Displaced fractures of the lesser toes should be treated with reduction and buddy taping. Patients with displaced fractures of the first toe often require referral for stabilization of the reduction.

Fracture Fixation↗

Mutation of HOXA13 in hand-foot-genital syndrome.

There are several human syndromes which involve defects of the limbs and the Müllerian ducts or its derivatives. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Stern et al. Additional reports describing other affected families have also been published. Limb anomalies include short first metacarpals of normal thickness, small distal phalanges of the thumbs, short middle phalanges of the fifth fingers, and fusion or delayed ossification of wrist bones. In the feet, the great toe is shorter due to a short first metatarsal and a small, pointed distal phalanx. Uterine anomalies are common in females with HFG, and typically involve a partially divided (bicornuate) or completely divided (didelphic) uterus, representing defects of Müllerian duct fusion. Urinary tract malformations in affected HFG females include a displaced urethral opening and malposition of ureteral orifices in the bladder wall; affected males may have hypospadias (ventrally misplaced urethral opening) of variable severity. We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. The mutation converts a highly conserved tryptophan residue in the homeodomain to a stop codon, which truncates 20 amino acids from the protein and likely eliminates or greatly reduces the ability of the protein to bind to DNA.

Abnormalities, Multiple↗

[The biphalangy of the thumb. General review of the literature].

The thumb has only two phalanges whereas the other fingers present three. For two millennia, many anatomists tried to solve this riddle. Four different theories can be found in the review of literature, to explain what element misses in the radial column. In the first theory (Galen), the first metacarpal should be the proximal phalanx of the thumb. The particular ossification of the first metacarpal advocates for this theory. In the second theory (Sappey), the first metacarpal should result from the fusion between the true first metacarpal and the proximal phalanx of the thumb, and the proximal epiphysis should be constituted from both metacarpal and phalangeal parts. In the third theory (Paturet), the middle phalanx is thought to be missing. Apart morphological considerations, the main argument refers to symbrachydactyly, which consists in decreasing digital ray length (by reducing the middle phalanx), and usually affects digits excluding the thumb. In case the thumb is affected (in complex symbrachydactylies), the reduction concerns thus the first metacarpal, suggesting that the thumb middle phalanx has already disappeared. In the fourth theory (Pfitzner), the distal phalanx of the thumb should result from the fusion between the second and third phalanges of the thumb. This mechanism, named symphalangy, is well known in the foot, especially in the fifth toe, but also for the other toes, and even in the two ulnar fingers.

Humans↗

A severe case of mandibuloacral dysplasia in a girl.

We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. On follow-up, hands and feet showed progressive camptodactyly of fingers and toes with total loss of subcutaneous tissue. The clavicles were hypoplastic. Intelligence was normal. We review the literature on the subject and discuss differential diagnosis.

Adolescent↗

Cartilaginous sesamoid or nodule of the interphalangeal joint of the big toe.

Since 1971, a cartilaginous sesamoid or nodule has been identified in the plantar ligament of the interphalangeal joint of the big toe in 29 of the 58 patients (50%) from whom spurs of the plantar medical aspect of the adjacent phalanges were removed because of painful callouses. It is felt that the firm mass of the cartilaginous sesamoid may have contributed to the callous formation in many cases. These cartilaginous sesamoids have all been removed when found.

Adult↗

Syndromic dystelephalangy.

We report an 8-year-old boy with a distinctive facial phenotype, deformities of fingers and toes and limitation of knee movement of unknown etiology. He had a round face, a long nose, a thin upper lip, a small mouth and micrognathia. In spite of microcephaly and retarded speech development secondary to hearing loss his mental development was within normal limits. The most distinctive radiographic abnormality was hypoplasia of the distal end of the middle phalanges with radial deviation of the distal phalanges.

Abnormalities, Multiple↗

Trichorhinophalangeal syndrome type I.

A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.

Adult↗

Distribution of pacinian corpuscles in the cat forefoot.

The distribution of pacinian corpuscles in the cat forefoot was investigated using celloidin sections stained with haematoxylin and eosin. The corpuscles were oval or elliptical, their longitudinal and transverse diameters being 590.0 +/- 207.6 microns and 320.0 +/- 119.6 microns. There were 667 corpuscles (mean value for 4 feet) in each forefoot, 80% of which were in the toe region and the remainder in the palmar region. The number of corpuscles was similar in both forefeet. There was no difference in light microscopic structure. Corpuscles were located (1) in the dermis and subcutaneous tissue of the skin folds covering the claw, (2) between the flexor digitorum tendon and middle phalanx, (3) in the subcutaneous adipose tissue of the metacarpal pad and (4) in short digital muscle of the carpal pad. Scattered corpuscles were found in contact with the periosteum of distal and middle phalanges and with flexor tendon sheath, and in the dermis of the palm. Corpuscles were observed to be clustered in the skin folds of the toes. Skin folds, made of dorsal hairy skin, covered the claw on both sides, with most corpuscles in contact with hair follicles and others scattered between hair follicles. Forefoot corpuscles were often in proximity with blood vessels. Corpuscles in the palmar region were seen to be arranged along the superficial palmar metacarpal nerve.

Adipose Tissue↗

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.

Human synpolydactyly (SPD) is an inherited congenital limb malformation caused by mutations in the HOXD13 gene. Heterozygotes are typically characterized by 3/4 finger and 4/5 toe syndactyly with associated duplicated digits; hands and feet of homozygotes are very small because of a shortening of the phalanges, metacarpal and metatarsal bones. Here we describe the phenotype and molecular basis of a spontaneous mutation of Hoxd13 in mice that provides a phenotypically and molecularly accurate model for human SPD. The new mutation, named synpolydactyly homolog (spdh), is a 21 bp in-frame duplication within a polyalanine-encoding region at the 5'-end of the Hoxd13 coding sequence. The duplication expands the stretch of alanines from 15 to 22; the same type of expansion occurs in human SPD mutations. spdh/spdh homozygotes exhibit severe malformations of all four feet, including polydactyly, syndactyly and brachydactylia. The phenotype of spdh is much more severe than that exhibited by mice with a genetically engineered, presumably null, disruption of Hoxd13. Thus spdh probably acts in a dominant-negative manner and will be valuable for examining interactions with other Hox genes and their protein products during limb development. Homozygous mice of both sexes also lack preputial glands and males do not breed; therefore, spdh/spdh mice may also be valuable in studies of reproductive physiology and behavior.

Abnormalities, Multiple↗

[Frostbite of the upper and lower limbs in an expert mountain climber: the value of bone scan in the prediction of amputation level].

A 38 year old man was admitted to our hospital 10 days after suffering a frostbite injury in hands and feet while practicing mountain climbing, at 8,100 meters of altitude, while he was trying to reach the top of the K2 mountain. A 99mTc-MDP bone scan performed in aseptic conditions showed: in hands: absence of bone uptake in the 3rd phalanx and distal portion of 2nd phalanx of the 5th finger of the left hand, and multiple areas of increased uptake in the distal portion of both hands. In feet: uptake decreases in the 2nd phalanx of the first toe of the left foot, and absence of bone uptake in the 3rd phalanx of the 2nd toe of the left foot, and in 2nd phalanx of the 1st toe and 3rd phalanx of the 2nd, 3rd and 4th toes of the right foot. As in the hands, there were multiple areas of increased uptake in the distal portion of both feet. The phalanges with absence of bone uptake had to be amputated, while those that presented increased uptake recovered with conservative treatment. Bone scan is indicated in the evaluation of frostbite injuries and helps to establish the prognosis early.

Adult↗

Somatosensory representation of the climbing fiber system in the rostral intermediate cerebellum.

The fine grain organization of the climbing fiber (CF) representation for the intermediate cortex of lobules III, IV, and Va was examined. Data were obtained from cats anesthetized with sodium pentobarbital. Through extracellular recording techniques, CF responses were identified in 814 Purkinje cells; 74% were elicited by mechanical stimulation of various body surfaces. Of the CF responses elicited by stimulation, 60% involved the ipsilateral hindlimb, 36% represented parts of the forelimb, and only 4% represented areas of the face, tail, or abdomen. Hindlimb representation predominated in lobules III and IV, and forelimb representation was mainly confined to lobule Va. No distinct parasagittal zones that involved all three lobules were identified. In general, the organization for most sublobules could be best described as a mixture of patches of forelimb or hindlimb representations. Within the patches there was considerable diversity of receptive field types, particularly for the extremities. The receptive fields involving the distal phalanges were generally smaller than those for the proximal areas, but a range in field sizes was evident for both distal and proximal regions. More than half of either the forelimb or the hindlimb representation was limited to the distal paw areas; the two middle toes received the most frequent representation. Representations of the proximal limb areas were generally centered around either the wrist or the heel, or around the elbow or knee, but many of these receptive fields also extended to the phalanges. The multiple representation of various areas of forelimb and hindlimb throughout the rostral intermediate cortex was consistent with the type of organization that had been identified in other regions of the anterior lobe, although each cortical area contained a unique proportional CF representation of various body areas.

Animals↗

Lawnmower injuries in the United States: 1996 to 2004.

STUDY OBJECTIVE: We update the epidemiology of lawnmower injuries, together with leading mechanisms of lawnmower injury in the United States, for the entire age range by using nationally representative data. METHODS: Data were obtained from the National Hospital Discharge Survey 1996-2003 and the National Electronic Injury Surveillance System 1996-2004. RESULTS: Individuals in the 60- to 69-year age group had the highest push mower injury incidence in 2004, whereas those in the 70 years and older age group had the highest riding mower injury incidence. Children younger than 15 years also had a substantial injury incidence. Individuals in the 15- to 19-year age group had the highest rate of hospitalizations caused by lawnmower injuries from 1996 through 2003, with 0.72 per 100,000 person-years (95% confidence interval 0.07 to 1.36). Debris from under the mower hitting a body part or entering the eye was the most common mechanism for lawnmower injury. The second most common mechanism of injury was nonspecific pain onset after the ordinary operation of the mower. Fracture of 1 or more phalanges of the foot was the most common diagnosis among lawnmower injury hospitalizations, with 34.4%, followed by traumatic amputation of the toe, with 32.4%. There is an increasing trend of lawnmower injuries in the United States during the last 9 years. CONCLUSION: Lawnmower injuries increase with age, with peaks in persons older than 59 years. Given the high incidence of projectile-related injuries, improved protective apparel and eyewear could lower the rate of injury for all age groups. The increasing trend of lawnmower injuries in the United States suggests that more must be done to prevent lawnmower injuries.

Adolescent↗

The interphalangeal joint of the great toe in rheumatoid arthritis.

The radiographic abnormalities of the interphalangeal joint of the great toe in 50 patients with rheumatoid arthritis were compared with those in 14 patients with psoriatic arthritis. Alterations were seen in 50% of the rheumatoid joints. Characteristic superficial erosions along the medial aspect of the proximal and distal phalanges, with little change in the joint space, differed from more widespread and extensive destruction of this joint in psoriasis. In addition, periosteal proliferation, bony ankylosis and tuft resorption, frequently noted in psoriatic arthritis, were unusual in rheumatoid disease. An anatomic investigation of the interphalangeal joint of the great toe explains the sites of marginal erosions in rheumatoid arthritis. Although selective involvement of this articulation occurs in psoriatic arthritis and Reiter's syndrome, it is the radiographic pattern of articular abnormality which allows their differentiation from rheumatoid arthritis.

Arthritis↗