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PubMed2004

PNET of the hallux.

We present the case of a 21-year-old lady who presented with a peripheral primitive neuroectodermal tumour (pPNET) of the distal phalanx of the right great toe. She had an amputation through her metatarso-phalangeal joint, the diagnosis having been confirmed histologically. Although her resection margins were clear and radiological staging revealed no metastases, she was commenced on adjuvant chemotherapy due to the high rate of metastases associated with the disease. Her surgery came after two years of intermittent pain and swelling of her toe, during which time she was undergoing conservative management, with serial visits to the outpatients department, of a radiological (magnetic resonance imaging) diagnosis of a haemangioma. This case report details her background, diagnosis and treatment as well as presenting a literature review of what is an unusual tumour in a previously unreported site.

Adult↗
PubMed1991

Congenital lipofibromatosis associated with macrodactyly of the foot.

Congenital lipofibromatosis of the foot, a type of paracrine growth disorder, is a distinct clinical entity that must be differentiated from other causes of macrodactyly, with specific diagnostic and therapeutic considerations. Eleven skeletally immature patients with congenital lipofibromatosis and macrodactyly of the foot were studied. Diagnostic histopathologic criteria were documented. The most specific pathologic finding of congenital lipofibromatosis is an overabundance of fibrofatty tissue on the plantar aspect of the foot and involved toes. Surgical defatting or debulking procedures, ray resection, and phalangeal epiphysiodesis produced significant cosmetic improvement. Syndactylization and phalangeal resection were not as beneficial.

Adolescent↗
PubMed2004

Foot function after ray resection for malignant tumors of the phalanges and metatarsals.

Four patients with malignant tumors of the proximal toe phalanx who had closed contact or direct involvement of the metatarsophalangeal joints or direct infiltration of the metatarsal bone were treated. Treatment included ray resection and reconstruction either by free microvascular fibula transfer, intermetatarsal bony fusion, or soft-tissue stabilization. Foot function was analyzed by Novel pedobarography. The four patients with a follow-up between 21 months and 8 years show almost normal gait. All patients have remained relapse free. If adequate margins can be achieved, ray resection and appropriate reconstruction may be an alternative to amputation.

Adolescent↗
PubMed1976

Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.

A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by "ball-like" remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.

Adult↗
PubMed1988

Hyperphalangeal bones induced in rat pups by maternal treatment with nifedipine.

Hyperphalangeal bones were found in postnatal rat pups of mothers treated with nifedipine during pregnancy. The anomaly occurred only at the region between the middle and distal phalanges of the 3rd and 4th fingers and toes. The critical periods of the anomaly were days 13 and 14 of pregnancy for the fingers, and days 14 and 15 of pregnancy for the toes. The incidences were dose-related, being more than 90% in both fingers and toes at a single dose of 150 mg/kg, and even more marked at the 4th digits than at the 3rd digits. Neither right/left difference nor sex difference was manifested in the incidence of the anomaly.

Abnormalities, Drug-Induced↗
PubMed2005

[Topiramate and pregnancy. Neonate with bone anomalies].

Topiramate is a new generation, antiepileptic drug used for the treatment of persistent partial crises. To date no specific teratogenic effects have been reported in humans, but they have appeared in experimental animals. We present the case of a neonate whose mother suffered from partial epilepsy, which was treated with topiramate throughout pregnancy at doses of 300 mg per day. When the child was born agenesis of the right thumb, hypoplasia of the left thumb, and syndactylia of the second and third toes of the foot with agnesis of some phalanges, and hypoplasia of the right orbicular muscle in the mouth were observed. No etiologic cause was found. We discuss whether there could have been a causal relationship with topiramate monotherapy.

Abnormalities, Drug-Induced↗
PubMed1985

Greig cephalopolysyndactyly syndrome. Report of a sporadic case.

A female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated. In addition, our patient exhibits genu recurvatum on the left side resulting from intrauterine deformation. Sonography of the head reveals normal formation of the corpus callosum. The neurological status of our baby is inconspicious, and the psychomotor development up to the age of 2 5/12 years normal. The differential diagnosis of this characteristic combination of pre- and postaxial polydactyly has to consider the acrocallosal syndrome. In sporadic cases of Greig cephalopolysyndactyly syndrome it is important to investigate and follow the neurological status of the patients and in particular to use sonography to document the intact corpus callosum. Patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded.

Child Behavior↗
PubMed1986

Spool-shaped proximal pedal phalanges.

We have observed that "spool-shaped" proximal pedal phalanges sometimes are found in single or multiple toes, often affecting both feet. These changes may be present in normal as well as abnormal feet. The etiology is unknown. Such changes do not occur in the hands.

Foot Diseases↗
PubMed1984

[Acro-coxo-mesomelic dwarfism: a new variety of autosomal recessive dwarfism].

Acro-coxo-mesomelic dwarfism seems to be a new autosomal recessive entity, one compatible with survival. This severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. Other malformations are clubhand and foot, short malformed fingers, and reduced articular mobility of elbows and hips with radial and femoral dislocations. Skeletal X-rays show the following: delayed bone age; mesomelic shortening of the limbs with cubitus brevus, radius curvus, and mostly fibula agenesis; severe acromelic deformities with clinodactyly of the IIIrd, IVth, and Vth digits and brachyrhizophalangia of the IInd and Vth digits. Brachymetacarpia is diffuse, with a "squashed candle" appearance. The IInd metacarpals and the proximal phalanx of the Vth digits have a peculiar "butterfly wings" appearance. The toes are shortened with a "drumstick" appearance and phalangeal hypoplasia, mostly of the midphalanges; hip dislocation and dysplasia (coxomelic), with hypoplasia of the femoral head and a coxa vara cylindric neck.

Adolescent↗
PubMedDate not supplied

Pigmented villonodular synovitis of the foot and ankle: Forty years of experience from the Scottish bone tumor registry.

Fourteen cases of pigmented villonodular synovitis (PVNS) of the foot and ankle accrued from the Scottish Bone Tumor Registry are presented with an average follow-up of 4.6 years. This study analyzed the clinical, radiological, and histopathological features and investigated their clinical behavior and the factors influencing recurrence. The mean age of the patients was 26.4 years (range, 8-52 years). There were 8 women and 6 men. The mean delay in presentation was 10.3 months. The anatomical sites were phalanges (n = 2), tarso-metatarsal area (n = 3), and hindfoot (n = 9) (6 extraarticular soft tissue swellings around the ankle, 2 ankle, 1 subtalar joint). Eight (57.1%) cases presented with a painless lump, 5 (35.7%) patients had painful masses, and 1 case had a lump associated with toe deformity. Peri-articular tissue invasion and cortical infiltration were found in one third on plain films. Magnetic resonance imaging findings were suggestive of synovial sarcoma in 2 cases because of extensive low-signal soft tissue hypertrophy and bone erosion. Excision of the lump was performed in 4 cases with a complete recovery. Phalangeal lesions were treated with toe amputation through the metatarsophalangeal joint, and no cases had recurrence. There were 2 recurrences affecting the ankle and the subtalar joint. There was a 14.3% recurrence rate, while complete recovery was achieved in 85.7% cases (12/14). A high index of suspicion for PVNS should be observed for cases presenting with a painless or painful mass in the foot and ankle region. Complete recovery can be achieved in the majority by complete excision. Toe amputation may be considered for foot phalangeal PVNS.

Adolescent↗
PubMed1986

Dynamic post-surgical hallux varus after lateral sesamoidectomy: treatment and prevention.

Hallux varus and clawing are occasionally seen after a McBride procedure, due to the severance of the flexor hallucis brevis, when the lateral sesamoid is removed. The present study includes six patients, (involving ten feet), who developed hallux varus and great toe clawing after McBride procedures were performed by various orthopedic surgeons. Treatment utilized partial proximal phalangeal resection, with and without silicone single-stem implants, extensor hallucis longus tendon transfer to the great toe metatarsal, and interphalangeal joint arthrodesis, or tenodesis of the great toe to correct clawing. One patient eventually required a great toe metatarsophalangeal joint fusion. This reconstructive surgery is generally effective by correcting capsular malalignment, the "bowstringing" tendency of the extensor hallucis longus, and great toe clawing that develops simultaneously with hallux varus. Lateral sesamoidectomy is risky, and believed unnecessary as adductor hallucis tenotomy is effective in relieving hallux valgus. Although, it can occur with excessive excision of the medial emminence and distal advancement of the abductor hallucis. The author is unaware of hallux varus developing after adductor hallucis tenotomies.

Adult↗
PubMed1995

Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.

We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.

Adult↗
PubMed2006

2q24-q31 deletion: report of a case and review of the literature.

We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q24.3-q31.1. The patient shows postnatal growth retardation, microcephaly, ptosis, down-slanting palpebral fissures, long eyelashes and micrognathia. Halluces are long, broad and medially deviated, while the other toes are laterally deviated and remarkably short with hypoplastic phalanges. She also showed developmental delay, seizures, lack of eye contact, stereotypic and repetitive hand movements and sleep disturbances with breath holding. Prenatal and three independent postnatal karyotypes were normal. Array-CGH analysis allowed us to identify and characterize a "de novo" 2q interstitial deletion of about 10.4Mb, involving segment between cytogenetic bands 2q24.3 and 2q31.1. The deletion was confirmed by quantitative PCR. About 30 children with 2q interstitial deletion have been reported. The deletion described here is overlapping with 15 of these cases. We have attempted to compare the clinical features of our patient with 15 overlapping cases. The emerging phenotypes include low birth weight, postnatal growth retardation, mental retardation and developmental delay, microcephaly, and peculiar facial dysmorphisms. Peculiar long and broad halluces with an increased distance between the first and the second toe are ("sandal gap" sign) present in most of the described patients. The gene content analysis of the deleted region revealed the presence of some genes that may be indicated as good candidates in generating both neurological and dysmorphic phenotype in the patient. In particular, a cluster of SCNA genes is located within the deleted region and it is known that loss of function mutations in SCNA1 gene cause a severe form of epilepsy.

Abnormalities, Multiple↗