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PubMed1983

Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

Hirschsprung's disease usually occurs as an isolated malformation as a result of multifactorial causation. A family in which four males (two brothers and two maternal uncles) had Hirschsprung's disease and absence or hypoplasia of the nails and distal phalanges of the great toe and thumb (type D brachydactyly) is described. Hand abnormalities were not present in any other family members, and the obligate heterozygous females were without gastrointestinal problems. The pattern of inheritance was consistent with X-linked recessive inheritance; however, autosomal dominant inheritance with incomplete penetrance in females or multifactorial causation could not be completely excluded.

Adolescent↗
PubMed1981

[Albopapuloid epidermolysis bullosa (Pasini's disease)].

The aim for this communication is one case of the dystrophic Epidermolysis bullosa in its variant just called as "albopapuloid". The patient a male of 25 years, suffers from the disease since the age of 2. His mother and one brother show the same disease. The clinical manifestations began as bulloe on the superior and inferior limbs. The bullae heal with atrophic scars and the eruption is constantly relapsing after subsiding. Besides the bullous eruption there are other lesions persistently coming out as whitish elevations which are elongate as to form numerous streaks on the surface of the skin. Such lesions started at the age of 5 and do not come from the bullae but they are quite independent, and constitute the essential characteristic for the albopapuloid clinical variant. Small miliary epidermal cysts are seen over the scars. Dystrophic changes of the nails with absence of many of them and the toes show the lst phalanges partially absorbed. On histological examination the bullae are subepidermal and contain a fibrin-leukocytic exudate. The albopapuloid lesions reveal keratosis, epithelial atrophy, diffuse and condensed fibrosis in the corium and around the hair follicles.

Adult↗
PubMed1993

Pfeiffer's syndrome family tree. Review of the literature.

Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abnormalities. This case study reviews four generations of a family with craniofacial abnormalities, multiple simple syndactylies, and delta phalanges of bilateral great toes and thumbs inherited in an autosomal dominant fashion.

Acrocephalosyndactylia↗
PubMed1999

Phalangeal morphology of the paromomyidae (?primates, plesiadapiformes): the evidence for gliding behavior reconsidered.

A comparative morphometric analysis of isolated proximal and intermediate phalanges attributed to the paromomyids Ignacius graybullianus and Phenacolemur simonsi was undertaken to test the hypothesis that these fossil phalanges exhibit evidence of a dermopteran-like interdigital patagium. Linear dimensions were collected for the fossil phalanges and a comparative sample of associated proximal and intermediate phalanges representing extant tree squirrels, tree shrews, dermopterans (colugos), gliding rodents and marsupials, and prosimian primates. Quantitative data indicate that the proximal and intermediate phalanges of paromomyids are most similar in their overall shape to those of the dermopteran Cynocephalus. The proximal phalanges of paromomyids and colugos possess well-developed flexor sheath ridges and broad, high shafts, whereas the intermediate phalanges of these taxa are most similar to one another in their trochlear morphology. Discriminant analysis indicates that all of the paromomyid intermediate phalanges resemble those from colugo toes more so than those from colugo fingers. Moreover, the relative length and midshaft proportions of both the proximal and intermediate phalanges of paromomyids closely resemble those of several squirrels that lack an interdigital patagium. The following conclusions are drawn from this study: 1) paromomyids share a number of derived phalangeal features with modern dermopterans that may be indicative of a phylogenetic relationship between them, 2) existing intermediate phalanges of paromomyids are inconsistent with the "mitten gliding" hypothesis because they do not possess the distinctive length and midshaft proportions characteristic of colugo manual intermediate phalanges, and 3) paromomyids share with colugos and the scaly-tailed squirrel Anomalurus several aspects of phalangeal morphology functionally related to frequent vertical clinging and climbing on large-diameter arboreal supports.

Animals↗
PubMed2006

Chondromyxoid fibroma of the foot and ankle: 40 years' Scottish bone tumour registry experience.

Ten cases of histologically proven chondromyxoid fibroma (CMF) of the foot and ankle with a mean follow-up of 6.1 years were retrospectively reviewed using the Scottish Bone Tumour Registry. The patients' mean age was 19 years; there were six males and four females. The anatomical locations were five phalangeal, three metatarsal, one tarsal affecting body of os calcis and one distal tibial. The median delay in presentation was 4.5 months. The modes of presentation were pain only (n=4), painful lump (n=4) and painless lump (n=2). The typical radiological finding was an expansile, lobulated, cystic lesion. Cortical erosion was documented in 80% patients. In four cases, curettage alone was carried out, while five patients underwent curettage along with autogenous bone grafting. One patient with distal phalangeal CMF had a primary toe amputation. Two patients had recurrences 9 and 16 months after their initial curettage. Both of them were males with proximal phalangeal CMF, associated with cortical erosion. Foot and phalangeal CMF initially treated with curettage only should be closely followed up, as we observed a 20% recurrence rate within a 2-year period. Cases featuring cortical erosion require thorough curettage and may require autogenous bone grafting to prevent fracture.

Adolescent↗
PubMed1992

New skeletal dysplasia with unique brachydactyly.

We report on 2 male propositi, their mothers, and a maternal aunt with a new skeletal dysplasia associated with a unique pattern of digital malformation, variable mild short stature, and mild bowleg with proximal overgrowth of the fibula. The digital malformations comprise a pattern of brachydactyly which includes short, abducted thumbs, short index fingers, and markedly short, abducted great toes. The radiographic findings include hypoplastic thumbs and great toes with short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Radiographs of the long bones show mild metaphyseal and epiphyseal irregularity, tibial spurs, and relative elongation of the fibulae. The males are very similarly affected whereas the females show phenotypic variation and are generally less severely affected. The family histories from 2 fairly extensive pedigrees suggest X-linked dominant inheritance.

Adolescent↗
PubMed2006

Shoe adaptation after amputation of the II - V phalangeal bones of the foot.

In The Netherlands, about 50% of all amputations of the lower limb are toes and forefoot amputations. Traumata of toes and mid-foot are rare. Preservation of the foot is the primary goal for treatment. Crush injuries of the foot may be associated with prolonged morbidity. This case study presents an insole solution for the solitary first phalangeal bone after amputation of the phalangeal bones II - V. The normal adaptation for forefoot amputations is stiffening of the sole of the shoe and a rocker bar to improve the toe off phase with load reduction of the forefoot. Because the patient had to do excessive stair climbing during work another solution was chosen. As a foot orthosis, a metal soleplate was made in order to have free movement during loading and toe-off during walking. The soleplate gives safety and provides self-adjusting properties after toe off. This enables the shoe technician to make a shoe without a rocker bar or an extra stiff insole. The 0.5 mm custom-made spring-steel plate is also used as a protective in industrial safety shoes. To improve shoe adaptation more research and case reports have to be published in order to inform doctors and shoe technicians about everyday solutions to partial foot amputations.

Amputees↗
PubMed1995

[Weary hereditary sclerosing poikiloderma].

INTRODUCTION: Hereditary sclerosing poikiloderma is a genodermatosis with dominant autosomal transmission and variable penetration. The first case was described by Weary in 1969 in 7 members of two black families. CASE REPORT: A 10-year-old girl had localized regional poikiloderma of the fingers and club toes. These lesions were associated secondarily with linear symmetric bands of sclerotic tissue in the axiallary regions. On the X-ray examinations of the distal phalanges of the fingers and the toes showed a proximal growth foyer and absent ungueal phalanges, excepting in the fourth finger of the left hand. Capillaroscopy of the supra-ungueal fold of the fingers showed abnormal capillary circulation. Histology and ultrastructural examinations did not reveal any pathognomonic alterations. DISCUSSION: This case is the first reported in a white patient. The radiological aspect and the results of the capillaroscopy of the fingers and the toes have not been reported previously in this rare genodermatosis. Inheritance of this genodermatosis is poorly defined.

Abnormalities, Multiple↗
PubMed1989

[Taybi-Rubinstein syndrome: the value of the x-ray picture].

28 cases of Taybi-Rubinstein syndrome with different radiological appearances are presented along with radiological differential diagnosis. Broadening of the distal phalanx of the thumb (68%) and great toe (64%) was the most common radiological sign followed by incomplete fissures of the distal phalanges of the thumb and first toes. Radiological examination in association with clinical signs and laboratory investigations is an essential part in the diagnosis of the Taybi-Rubinstein syndrome.

Abnormalities, Multiple↗
PubMed1983

Ewing's sarcoma of the phalangeal bone.

A rare case of Ewing's sarcoma of the toe bone is described and compared with three cases of phalangeal Ewing's sarcoma. The lesion in two cases was initially treated as infection and the diagnosis was delayed for several months. Roentgenographic and aspiration cytology examinations in cases with clinically unresolving infection of the hands and feet may prevent delayed diagnosis. Radical surgery alone may be curative if no metastases are found preoperatively in careful clinical investigations.

Adult↗
PubMed1996

Aesthetic refinements in toe-to-hand transfer surgery.

Techniques for aesthetic refinement are as important as those for functional improvement in toe-to-hand transfer. The appearance of the thumb reconstructed using various types of great toe transfer can be improved by reduction of the soft tissue, bone, interphalangeal joint, and nail and by secondary pulp reduction and contouring procedures. Finger and thumb reconstructions using lesser toes can be improved aesthetically by minimal inclusion of adipofibrous tissue under the plantar skin flap especially at the metatarsophalangeal joint region, thus decreasing the anterior-posterior bulkiness. Tight extensor repair, temporary K-pin fixation of the proximal and distal interphalangeal joint in extension, followed by prolonged use of a nighttime extension splint and secondary pulp reduction help to avoid the claw and drumstick appearances of the transferred lesser toe. Adequate soft-tissue coverage, cruciate skin incisions, extensive mobilization, and thinning and trimming of the skin flaps of the digital amputation stump lead to a smooth junction between the amputated digit and the transferred toe. In the distal digital reconstruction, skeletonization of medial and lateral neurovascular bundles of the harvested toe helps primary closure of the digital wound, thus avoiding the unsightly skin graft on the sides of the reconstructed digit. Regarding the donor foot, preservation of the proximal 0.5 to 1 cm of the proximal phalangeal stump of the great toe maintains the span of the foot, thus improving donor site appearance. In single lesser toe or combined second and third toe transfer, the proximal phalanx should not be preserved but an optimal web space should be reconstructed. Primary closure without skin graft is essential for aesthetic appearance of the donor foot.

Amputation, Traumatic↗
PubMed1976

[Sarcoidosis of the skeleton. Review of the literature and case report. (author's transl)].

The frequency of sarcoidosis in the skeleton varies between 3 and 36%. Skeletal sarcoidosis is rare in early stages (Löfgren-syndrom), relatively frequent in late stages. The initial phase is characterized by the formation of miliary non-caseating epitheloid-cell granulomas in the bone marrow. The invasion of the bone marrow may either be tolerated by the bone tissue or it initiates a perifocal osteosclerosis or a osteolysis. Correspondingly the X-ray of the skeleton shows normal structure or focal osteosclerosis or osteolysis. Therefore in the first case the sarcoidosis cannot be identified by X-ray. Most frequent locations are the phalanges of the fingers and toes, less common the stem skelton (skull, vertebrae, pelvis) and very rare the long tubular bones. In most cases the skeletal sarcoidosis is well tolerated. Report of a case of osteosclerotic sarcoidosis of the pelvis of a 39-years old woman with generalized sarcoidosis which was diagnozed four years earlier. The X-rays of the phalanges were normal. The biopsy of the iliac crest shows miliary sarcoid granuloma of the bone marrow and accretion of lamellar bone on the surface of the bone trabeculi with a distinct mosaic pattern. Treatment with steroids during the following five years was ineffective.

Adolescent↗
PubMed2000

Should the amputations of the great toe be replanted?

Seventeen great toes, amputated at the distal phalangeal to the level of the MTP joint, were replanted between 1990 and 1998, at Izmir Hand and Microsurgery Hospital. Replantation in five out of six complete amputations, and seven out of eleven incomplete amputations were successful, and the overall survival rate was 76.4%. In failed replantations, the base of the proximal phalanx of the great toe was preserved during closing of the stump. Nine of 17 patients were available for review in the follow-up period of mean 3.5 years (range 1-6.5 years). Clinical and biomechanical evaluations of the operated feet were carried out in five patients who had replanted great toe, and in four patients who had amputated one. The uninjured sides were used as control group. The patients in the two groups had no significant subjective symptoms, nearly normal ROM of the MTP joint and protective sensation was achieved in the replanted great toes. With the numbers available, while radiographical parameters of the involved and the control sides demonstrated no significant differences in either groups, pedographical studies revealed consistent changes in weight-bearing distribution of the feet with amputated great toes. Although the great toe amputation causes no disturbance in gait, it alters the load distribution of the foot.

Adolescent↗
PubMed2000

Fingertip reconstructions using partial-toe transfers.

Fifty-six partial toes were transferred to reconstruct fingertip deficits. The transfers from the big toe mainly consisted of 3 trimmed big toetips, 3 vascularized nail grafts, 3 onychocutaneous flaps, 19 thin osteo-onychocutaneous flaps, and 2 hemipulp flaps. The transfers from the second toe mainly consisted of 8 trimmed second toetips, 5 reduced second toes, and 9 whole distal phalanges. The average values of postoperative sensory recovery of the osteo-onychocutaneous flaps including the vascularized nail grafts were 3.1 (Semmes-Weinstein test) and 6.3 mm (moving two-point discrimination) at 2.6 years after the transfer; those of the thin osteo-onychocutaneous flaps were 3.1 and 7.2 mm at 2.0 years after surgery; those of the trimmed big toe tip transfers were 3.61 and 6.5 mm at 1.8 years after surgery; and those of the trimmed second toetip transfers were 3.37 and 6.3 mm at 2.6 years after transfer. Those of the distal phalanx of the second toe were 3.41 and 7.9 mm at 1.2 years after surgery, and those of the reduced second toe were 3.2 and 6.7 mm at 10.6 months after surgery.

Adult↗
PubMedDate not supplied

Free second toe transfer for reconstruction of the distal phalanx of the fingers.

Free transfers of the distal parts of the second toe for reconstruction of distal phalangeal losses of the fingers were successfully carried out. This method is believed to be the best for functional and cosmetic reasons, but major postoperative vascular problems exist. To overcome these problems, multiple vascular anastomoses were employed at operation. The indications for this method are limited in Japanese patients, and its use depends on the patient's age, sex, religious beliefs and the shape of the second toe.

Adolescent↗
PubMed1986

Thiemann's finger or toe disease. Follow-up of seven cases.

Thiemann's disease is a non-inflammatory disorder of unknown etiology, affecting the epiphyses of the phalanges of the fingers and the first toe in children. We have re-examined seven patients after up to 18 years. Two patients had had pain in the affected digits for several years. In four patients radiographs after closure of the growth plates showed normal phalangeal dimensions without arthrosis. We conclude that different degrees of severity of epiphyseal disturbance consistent with the type described by Thiemann may be encountered. It is possible that trauma may worsen the prognosis by deformation of a susceptible epiphysis.

Bone Diseases↗
PubMed2003

Variations in the insertion of the extensor hallucis longus muscle.

Reports that describe abnormalities of the muscles and tendons of the leg and foot are important with regard to understanding the function of the lower limb and correlating these abnormalities with the clinical aspects. Variations in the insertion of the extensor hallucis longus muscle were studied in 60 adult human cadavers. Three different patterns of insertion were noticed. Pattern I (65%): the extensor hallucis longus muscle had a single tendinous insertion on the dorsal aspect of the base of the distal phalanx of the big toe. Pattern II (26.67%): the muscle terminated in two tendons. Pattern III (8.33%): the muscle terminated in three tendinous slips. Various sites of insertion of the extensor hallucis longus muscle were recorded other than the dorsal aspect of the base of the distal phalanx of the big toe. These were the dorsal aspect of the base of the proximal phalanx of the big toe and the capsule of the first metatarso-phalangeal joint or a connection with the tendon of the extensor hallucis brevis. The frequency of occurrence of lateral deviation of the big toe at the metatarso-phalangeal joint (hallux valgus) was recorded. It is suggested that the presence of these variations in the insertion of the extensor hallucis longus muscle may have a role in explaining its association with hallux valgus.

Cadaver↗