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At least 451 records · Page 25Linked to original sources
PubMed2002

Kindler syndrome in a Saudi kindred.

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.

Adult↗
PubMed1999

Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.

Abnormalities, Multiple↗
PubMed2001

One-year outcomes of a randomized controlled trial of an educational-behavioural joint protection programme for people with rheumatoid arthritis.

OBJECTIVE: Joint protection aims to reduce pain and local inflammation, preserve the integrity of joint structures and improve function. There is evidence that it can improve pain and function in the short term, but the long-term effects are uncertain. This study evaluated the effects of joint protection in early rheumatoid arthritis (RA). METHODS: A randomized, controlled, assessor-blinded trial of duration 1 yr was conducted. Two interventions (both 8 h) were compared: standard arthritis education, including 2.5 h of joint protection education based on typical UK practice; and a joint protection arthritis education programme, using educational-behavioural teaching methods. Assessments were made at entry and 6 and 12 months. RESULTS: Sixty-five people with RA attended the joint protection programme and 62 the standard programme. The groups were matched for age (51 and 49 yr), disease duration (21 and 17.5 months) and use of non-steroidal anti-inflammatory drugs and disease-modifying anti-rheumatic drugs. In comparison with the standard group, the joint protection group significantly improved with respect to adherence to the joint protection programme (P=0.001), hand pain (P=0.02), general pain (P=0.05), early morning stiffness (P=0.01), self-reported number of disease flare-ups (P=0.004), visits to the doctor for arthritis (P<0.01), and the AIMS2 (Arthritis Impact Measurement Scales) activities of daily living scale (P=0.04). A trend to improved swollen joint counts was identified (P=0.07). Within-group analyses also showed improvements in arthritis self-efficacy and perceived control. Hand deformity scores continued to increase in both groups. CONCLUSION: We found significant improvements in adherence, pain, disease status and functional ability amongst those attending the joint protection programme. Benefits became more apparent with time, suggesting that joint protection can help slow the progression of the effects of RA over and above the effects of drug therapy.

Arthritis, Rheumatoid↗
PubMedDate not supplied

Ulnar nerve injury after closed forearm fractures in children.

We treated two children with the unusual complication of ulnar nerve palsy after closed both-bone forearm fractures. Both patients developed an ulnar claw-hand deformity within 7 weeks of injury that resolved spontaneously by 20 weeks postinjury with nonoperative treatment. No patient showed any signs or symptoms of an ischemic compartment syndrome. Both nerve injuries were identified immediately at the time of fracture by a careful neurologic examination. This avoids confusion with a postreduction nerve entrapment injury or ischemic injury after a localized compartment syndrome, which may have considerably different treatments and outcomes. We recommend that a careful neurologic examination be recorded before any manipulative reduction of forearm fractures in children. If an ulnar nerve palsy is detected, it is probably a result of nerve contusion and should resolve without the need for surgical exploration.

Child↗
PubMed2001

Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the London Dysmorphology Database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.

Abnormalities, Multiple↗
PubMed2004

Treatment of the triphalangeal thumb.

Triphalangeal thumb is a thumb with 3 phalanges and has an estimated incidence of 1 in 25,000 live births. Clinical presentation of triphalangeal thumb can vary considerably. Most strikingly is the long finger-like thumb with clinodactyly, in the same plane as the fingers and may or may not present with an extra thumb. Anatomically, the extra phalanx can have different shapes, from wedge to rectangular. Furthermore, the involved joints, ligaments, muscles, and tendons of the first ray, from distal interphalangeal joint to radiocarpal joint, can be hypoplastic, malformed, or absent with varying degrees of stiffness or instability. Also, the first web can be insufficient, and radial polydactyly as well as other hand deformities can be present. The aim of surgical treatment is to try to reconstruct or correct the anatomic difference and at the same time provide a more acceptable appearance. In our series, depending on the malformation, operations varied from removal of the delta phalanx with ligament reconstruction to multiple osteotomies and rebalancing as well as pollicization. Complications are mostly related to structures that have not been reconstructed or corrected during operation. Results in these often complex cases can be rewarding if the surgeon has sufficient knowledge of the underlying anatomic differences.

Journal Article↗
PubMed2005

Proposal of new category for congenital unilateral upper limb muscular hypertrophy.

According to congenital anomalies of the hand and forearm classifications, the common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand. Congenital unilateral muscular hypertrophy of the upper extremity has been classified under the overgrowth (gigantism) problems as whole-limb hemihypertrophy. The common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand, which is not prominent in these patients. Only 15 cases with this anomaly have been reported since 1962. These patients have abnormal muscles with hypertrophic appearance and changed tendon to muscle length ratio. This type of muscular hypertrophy shows an increase in the number of fibers in transverse section, as also seen in multiply innervated muscles like the sartorius and gracilis in humans. Although this phenomenon has a mosaic type distribution, there is no progression of the muscular hypertrophy during growth period. Hand deformities are not due to a part of progression of the disease but result of imbalance of the extrinsic and intrinsic muscles. The evolutionary changes of skeletal muscles should be investigated to explain this congenital phenomenon and might be classified in a different entity from the present categories.

Child, Preschool↗
PubMed1993

Survival analysis of 118 patients with systemic sclerosis.

Life-table analysis based on the survival statistics of 118 Hungarian patients with systemic sclerosis suggests that the presence of skin hypo- and/or hyperpigmentation indicates a poor prognosis. Furthermore, truncal skin involvement, lung, cardiac, and renal manifestations, older age at the onset of disease, anaemia, hand deformity, and elevated erythrocyte sedimentation rate values, predict an unfavourable prognosis, whilst patients with exposure to chemicals shows a relatively favourable disease outcome.

Female↗
PubMed1990

Delayed rupture of the spleen in rheumatoid arthritis.

When tripping and falling patients with rheumatoid arthritis may adopt the 'fetal tuck' position to protect their painful deformed hands. There is then a risk of splenic injury by the left elbow, which may not be immediately apparent.

Accidental Falls↗
PubMed1992

Siebrandus Sixtius: evidence of rheumatoid arthritis of the robust reaction type in a seventeenth century Dutch priest.

Rheumatoid arthritis of the robust reaction type has been diagnosed in a seventeenth century Dutch priest, Siebrandus Sixtius, based on pictorial evidence of typical hand deformities and historical evidence affirming that he had chronic nodular rheumatism for many years. This case report, in conjunction with other pictorial depictions of probable rheumatoid arthritis, questions the view that rheumatoid arthritis is a modern disease which prevailed in the New World and was found in the Old World only after the discovery of America.

Arthritis, Rheumatoid↗
PubMed1993

Homozygous variegate porphyria: an evolving clinical syndrome.

Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa. We report two cases of homozygous variegate porphyria, one of whom represents the first South African case. We delineate a syndrome principally characterized by growth retardation, developmental delay, epileptic seizures, photosensitivity and an abnormal porphyrin excretion pattern. In addition we describe, in one case, two features not previously reported: skin disease in areas unexposed to light and a severe sensory neuropathy which may account at least in part for the hand deformities of this disorder.

Bone and Bones↗
PubMed2004

Bony entrapment of ulnar nerve after closed forearm fracture: a case report.

We report a case of ulnar nerve palsy following forearm fracture in a 13-year-old girl. Significant anterior angulation and displacement of the ulna were noted. Operation was performed 3 months after the injury, when no recovery of numbness and claw hand deformity were demonstrated. Intra-operatively the ulnar nerve was found to be embedded between fragments of the fractured ulna, which showed lack of callus formation on the preoperative radiograph. The patient achieved complete recovery of sensory and motor functions 4 months after the surgery.

Adolescent↗
PubMed1987

Antikeratin antibodies in rheumatoid arthritis. Methods and clinical significance.

A method to determine antikeratin antibodies (AKA) is described. AKA were detected by indirect immunofluorescence technique on rat esophagus as antigen in sera of patients with definite rheumatoid arthritis (RA). The frequency of AKA in rheumatoid factor (SCAT/Waaler-Rose) positive RA was 64% and in SCAT-negative RA, 28%. Of 61 control patients with non-RA rheumatic diseases, none was AKA-positive. Of healthy controls, 2.5% were AKA-positive. In serum from 88 definite RA patients, AKA were compared with precoded clinical features. A highly significant correlation to AKA was found with the presence of rheumatoid hand deformity. Some correlation to positive SCAT titre and s-Haptoglobin was observed. Our study suggests that determination of AKA will be of value in the diagnosis of RA, especially in rheumatoid factor negative cases and that the presence of AKA indicates a more aggressive form--or results of an aggressive course--of the disease.

Animals↗