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[Familial polymorph ventricular extrasystole associated with Pierre Robin syndrome].

In a family of 9 persons over 3 generations, 6 had incessant polymorphic ventricular extrasystoles, often in salves, resembling unsustained bidirectional ventricular tachycardia. Ventricular repolarisation was abnormal with giant U waves. Five persons had suffered syncopes. All had a facial abnormality: one woman had a complete Pierre Robin syndrome with mandibular hypoplasia, glossoptos and cleft palate; in the other cases, minor forms were observed, with micrognathia and ogival palate. Two patients had bone abnormalities of the feet with total agenesis of the last 2 phalanges of several toes. This familial polymorphic ventricular extrasystole with repolarisation abnormalities has many features in common with the congenital long QT syndrome; associated with the Pierre Robin syndrome and bone abnormalities of the extremities it would seem to be a new multiple congenital abnormalities syndrome.

Adolescent↗

[Acral melanoma].

Basing on 18 observations, histological features of malignant melanomas on the soles and the terminal phalanges of the toes were revealed and described in detail. A specific character of melanomas with such localization is evident from the histological pattern and clinical manifestations. It is suggested to distinguish the described acral lentiginous melanoma as a separate clinico-morphologic form of melanoma.

Female↗

The empty toe phenomenon: a type of closed degloving.

A 46-year-old man sustained a crush injury, including several phalangeal fractures and vascular disruption, when his left foot was run over by a forklift truck. Although the skin was not broken, the middle and distal phalanges of his second toe were displaced, appearing absent on radiography. This was a closed degloving injury, a rare form of trauma involving tissue separation without skin disruption. Closed degloving injuries, which can occur in conjunction with bone displacement in the toes, can produce a striking radiographic appearance, referred to in this report as the "empty toe."

Amputation, Surgical↗

Isolated macrodactyly or extremely localized Proteus syndrome?

We report on a woman with unilateral macrosyndactyly of the second and third toes, a local plantar soft tissue lump, and radiographically an abnormal shape of the phalanges of the affected toes. This finding may represent either an isolated macrosyndactyly or an extremely localised form of Proteus syndrome.

Adult↗

A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?

A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits. The second fingers and fourth fingernails were most severely affected in both patients. The mother's hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused. Besides the absence of fusion lines, the shape of the fused middle and distal phalanges was quite different from that of other types of fusion, i.e., fused bones in both patients did not maintain the normal configuration of bone, referring to as "middle-distal phalangeal complex". Distal symphalangism was observed in toes 2-5 of the mother and in toe 3 of the son. Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones. Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative.

Abnormalities, Multiple↗

Insertions of the lumbrical and interosseous muscles in the human foot.

The lumbrical and interosseous muscles in twenty-five feet of Japanese adult cadavers were dissected. The lumbrical muscles mainly continued into the dorsal aponeuroses or the terminal tendons of the extensor digitorum longus muscle, though they occasionally issued some accessory and slender tendons inserting into the bases of the proximal phalanges. Rarely, the lumbrical muscle showed an atavistic anomaly. In this anomaly, the lumbrical muscle was divided into two tails which continued into the bases of the proximal phalanges of the contiguous toes. The plantar and dorsal interosseous muscles were mainly attached to the bases of the proximal phalanges. Frequently, the plantar and dorsal interosseous muscles issued some accessory and small tendons continuing into the dorsal aponeuroses. This fact suggests that the plantar and dorsal interosseous muscles in the foot, like the palmar and dorsal interosseous muscles in the hand, are composite muscles derived from the flexor brevis, contrahens and other muscles.

Adult↗

[Isolated macrodactyly or extremely circumscribed Proteus syndrome?].

We report on two unrelated female patients with unilateral macrodactyly of the 1st and 2nd toes and of the 3rd, 4th, and 5th toes, respectively. In addition, they had a local plantar soft tissue lump and radiographically abnormally broad phalanges of the affected toes. These clinical manifestations may represent either an isolated macrodactyly or an extremely localized form of Proteus syndrome.

Abnormalities, Multiple↗

Idiopathic phalangeal acroosteolysis: a case report.

Acroosteolysis is characterized by bone resorption in the fingers and toes and can occur in several diseases. Phalangeal acroosteolysis is a rare idiopathic form. We report a case in a 13-year-old girl with a 2-year history of swelling and skin ulcers of the second and third left fingers and second right finger. The fingers were abnormally short and the nails were hypertrophic. Roentgenograms disclosed terminal phalangeal resorption in the fingers and toes. Findings were normal from tests for inflammation and dysimmunity. Biopsies of the skin lesions showed fibrosis without inflammation. Neurological evaluation and electromyographic study were normal. Serological tests for syphilis were negative. Calcium and phosphate levels in blood and urine were normal. A diagnosis of idiopathic phalangeal acroosteolysis (Joseph and Shinz disease) was given. This inherited form of acroosteolysis is transmitted on an autosomal dominant or recessive basis. It affects the tips of the distal phalanges of the fingers and toes but occasionally spreads to other bones.

Acro-Osteolysis↗

Atypical malformations in an infant exposed to warfarin during the first trimester of pregnancy.

We report a dysmorphic female infant whose mother took warfarin in therapeutic doses during the first 6 weeks of pregnancy. At birth the infant was small for dates and had a triangular facial appearance, micrognathia, microglossia, short fingers and toes, and hypoplastic nails. A skeletal survey revealed hypoplastic distal phalanges in the fingers and toes; there was no epiphyseal stippling. The pattern of malformations present in this infant may either represent the earliest teratogenic effects of warfarin or the fortuitous association of exposure to warfarin and unexplained dysmorphic features.

Abnormalities, Drug-Induced↗

Effects on toes from prenatal exposure to anticonvulsants.

BACKGROUND: Changes in the distal phalanges of the fingers, including coned epiphyses and hypoplasia of the phalanges, are recognized teratogenic effects of the anticonvulsant drugs phenytoin and phenobarbital. We hypothesized that the frequency of these changes would also be increased in the toes of children exposed to these drugs in comparison to unexposed children. METHODS: We report on the findings in an analysis of radiographs of the feet of 63 children exposed in utero to either phenytoin alone, phenobarbital alone or both drugs and 56 unexposed comparison children. RESULTS: Only subtle changes were identified. The frequency of coned epiphyses and hypoplasia of phalanges of the toes was the same in both the anticonvulsant and unexposed children. Among the anticonvulsant-exposed children, however, there was a strong association between the presence of coned epiphyses in the feet and in the hands: all five children with coned epiphyses in the hands, as described previously in the same individuals by Lu et al. ([2000] Teratology 61:277-283) had coned epiphyses in their feet (P = 0.0012). Measurements showed a shortening of metatarsals in all three treatment groups, but this was significant only in the phenytoin monotherapy-exposed children. CONCLUSIONS: Subtle changes are present in the phalanges and metatarsals of the feet of anticonvulsant-exposed children, but the overall frequency is much less than occurred in the hands of the same children. We conclude that the presence of either coned epiphyses or hypoplasia of the phalanges of the toes cannot be considered a distinctive feature of the teratogenicity of the anticonvulsant drugs phenytoin and phenobarbital.

Abnormalities, Drug-Induced↗

Free vascularised toe joint transfer for reconstruction of the metacarpo-phalangeal joint.

Two single and two double free vascularised joint transfers from the foot to hand have been undertaken in four patients over a period of four years. All were to replace metacarpo-phalangeal joints in young patients in whom the use of prosthetic devices was considered unsuitable. All the transfers were successfully completed, but one failed late in the second post-operative week due to sepsis. The results of the remaining three transfers compare favourably with prosthetic arthroplasty and continue to improve. Donor site morbidity in the foot has been minimal and is reviewed.

Adolescent↗

[Treatment of the wound on donor site after great toe-nail flap grafting].

OBJECTIVE: To investigate the method of improving the vitality of skin graft on donor site of the great toe-nail skin flap. METHODS: From June 1982 to April 1998, 252 cases of the great toe-nail flaps with piece of phalangeal bone and 18 cases of the simple great toe-nail flap were repaired with thin skin graft and packed under proper pressure. The stitches were removed two weeks later in common situation. It should be postponed on split thickness or partial survival skin flap avoiding early mobilization. RESULTS: Sixty-six cases of skin graft were necrotic after operation. Among them, 38 cases needed second skin grafting and 28 cases were healed after changing dressing. The survival rate of skin grafting was obviously higher on phalangeal marrow surface than on periosteum of the naked phalange. Contracture of the skin graft after operation made the retained skin flap expanding from medial side to lateral side and covered the whole plantar surface of the great toe. CONCLUSION: The survival rate of the skin graft on donor foot is improved after adopting the improved measures on taking the flap from great toe and paying attention to skin graft planting and packing. Free flap grafting is advocated for repairing of the wound on donor area of the great toe nail flap.

Adolescent↗

[New varieties of lateral metatarsophalangeal dislocations of the great toe].

PURPOSE OF THE STUDY: We report seven cases of traumatic dislocation of the great toe, detailing the anatomy, the mechanism of injury and the radiographic diagnosis. We propose an additional classification based on three hereto unreported cases. MATERIAL AND METHODS: Between october 1994 and october 1997, we treated seven patients with traumatic dislocation of the first metatarso-phalangeal joint of the great toe. There were six men and one woman, mean age 35 years (range 24 - 44 years). Dislocation was caused by motor vehicle accidents in four cases and by falls in three. Diagnosis was made on anteroposterior, lateral and medial oblique radiographs. According to Jahss' classification, there was one type I and three type IIB dislocations. There was also one open lateral dislocation and two dorsomedial dislocations. Only these dorsomedial dislocations required open reduction, done via a dorsal approach. Mean follow-up was 17.5 months (range 9 - 24 months) in six cases. One patient was lost to follow-up. The outcome was good in six cases and poor in one (dorsomedial dislocation). DISCUSSION: Dislocation of the first metatarso-phalangeal joint of the great toe is an uncommon injury. In 1980, Jahss reported two cases and reviewed three others described in the literature. He proposed three types of dislocation based on the feasibility of closed reduction (type I, II and IIB). In 1991, Copeland and Kanat reported a unique case in which there was an association of IIA and IIB lesions. They proposed an addition to the classification (type IIC). In 1994, Garcia Mata et al. reported another case which had not been described by Jahss and proposed another addition. All dislocations reported to date have been sagittal dislocations. Pathological alteration of the collateral ligaments has not been previously reported. In our experience, we have seen one case of open lateral dislocation due, at surgical exploration, to medial ligament rupture and two cases of dorsomedial dislocation due, at surgical exploration, to lateral ligament rupture. CONCLUSION: We propose another additional classification with pure lateral dislocation (type III) and dorso-lateral dislocation (type IL or IIL+), which are related to the formerly described variants.

Accidental Falls↗

[Suppurative acrodermatitis continua of Hallopeau. A differential diagnosis of paronychia].

HISTORY AND CLINICAL FINDINGS: A 39-year-old man was admitted for treatment of bilateral inflammatory-pustular skin changes in the area of the large toes and soles of the feet. Antibiotic treatment and an Emmert wedge resection had already been unsuccessfully performed at another hospital for what was diagnosed as paronychia. On admission there were inflammatory, in part erosive, red areas with yellow and partly confluent pustules on the distal phalanges of both great toes. The entire right nail-bed and left medial nail-bed were missing. In the area of the capillitium, both lower arms and the sulcus coronarius there were erythematous squamous plaques. INVESTIGATIONS: Radiography of the great toes demonstrated dystrophic demineralisation, in part with subchondral cystic changes of the spongiosa. Histological examination of the nail-bed showed hyperplasia and papillomatosis, definite hyperkeratosis with a prominent granular layer, as well as ortho- and parahyperkeratosis. Laboratory tests for inflammatory disease were unremarkable and there was no association with HLA B27. DIAGNOSIS, TREATMENT AND COURSE: Suppurative acrodermatitis continua of Hallopeau was diagnosed and immunosuppressive treatment with cyclosporin A given (initially 4.4 mg/kg. stepwise reduction to 2.5 mg/kg within 6 weeks, this dosage then continued for a further 10 weeks). Nearly complete healing was achieved, but the condition recurred in a mild form 2 weeks after the end of treatment. CONCLUSION: Suppurative acrodermatitis continua of Hallopeau should be included in the differential diagnosis of inflammatory changes of the distal phalanges.

Acrodermatitis↗

Leprous osteitis presenting as bone cyst and erosions.

A 30-year-old man presented to the Hansen outpatient department with swelling and ulceration of toes for 2 months and swelling of the right fifth and fourth fingers and the left second finger for 1 month. In addition to skin lesions of lepromatous leprosy (subpolar type), there was nontender, non-fluctuant swelling of the right fifth and fourth fingers and left second finger. Skin over the right fifth finger showed sinus-like openings with associated purulent discharge. He also had swelling and ulceration of second left toe. Slit-skin smear (SSS) showed a bacterial index of 6+ from the ear lobes and cutaneous nodules, 4+ from the patch, and 3+ from normal skin. Modified Ziehl-Neelsen staining of the discharge extruding from the sinuses on the right fifth finger also showed abundant acid-fast bacilli. Radiography of the hands and feet showed lytic lesions in the distal epimetaphyseal region o proximal phalanx of the right fifth finger and left second finger and erosion of distal end of proximal phalanges of both second toes. Histopathological examination of biopsy specimen from the patch (back) showed features of lepromatous leprosy, and Fite-Faraco stain for tissue acid-fast bacteria (AFB) was strongly positive. Fine-needle-aspiration cytology (FNAC) from the lytic lesion in the bone also showed predominantly foamy macrophages with strongly positive staining for AFB with a few interspersed lymphocytes, epithelioid cells and Langhans giant cells. On the basis of these features, a clinical diagnosis of subpolar lepromatous leprosy with leprous osteitis was made. In today's clinical era of improved case detection and prompt treatment with effective multidrug regimens, advanced bone changes are rarely encountered. We describe this case of lepromatous leprosy that developed cavitating lesions of the phalanges of the hand, seen on x-ray as well-defined bone cyst and erosions.

Adult↗