X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.

Hair transplantation using a freely transferred nonhair-bearing skin flap.

Cicatricial alopecia is a common sequela of burns involving the head region. The authors present a case of an extensive form of cicatricial alopecia in an 18-year-old female patient who sustained a burn to the head at 2 years of age. The patient was treated with combined scalp reduction with the aid of tissue expanders and micrografting of the freely transferred, preexpanded deep inferior epigastric artery nonhair-bearing skin flap. The aim of this article is to show that hair transplantation on the freely transferred nonhair-bearing skin flap may be associated with infection and fat necrosis, and the end result is not satisfactory, as in the cases of hair transplantation on a normal bald scalp.

Orbicularis oculi myocutaneous flap in reconstruction of postburn lower eyelid ectropion.

The management of postburn lower eyelid ectropion is difficult, since the contraction of the skin graft may give rise to secondary deformities especially around the lateral 1/3 of the lower eyelid. In this paper, the results of reconstruction in lower eyelid ectropion with a laterally based orbicularis oculi myocutaneous flap from the upper eyelid in 7 young patients are presented. Satisfactory function and cosmesis were obtained in the evaluation of the patients up to 40 months follow-up. The method proved versatile as the donor scar was well-hidden in the supratarsal fold and the temporally based myocutaneous flap provided additional support to the lower eyelid by exerting an upward pull against the gravity. It is concluded that usage of this flap in postburn ectropion cases is worthwhile to avoid any recurrences. reserved.

Motor and sensory reinnervation in the hand after an end-to-side median to ulnar nerve coaptation in the forearm.

End-to-side coaptation of the median to ulnar nerve through an epineurial window was performed 5 cm proximal to the wrist in a patient with high median nerve injury associated with a 35 cm long nerve gap. Forty-three months after the operation, sensory examination revealed the presence of diminished protective sensation (3.61-4.31 NCM Semmes-Weinstein monofilament) in the large part of the median nerve dermatome. In the two-point discrimination test, single point was perceived in the median nerve dermatome pointing to the presence of protective sensation. MRI and EMG studies indicated limited motor reinnervation in the opponens pollicis muscle. This novel method of nerve repair may be chosen in the management of very long nerve gaps, where conventional methods are likely to give an unsuccessful result.

Progressive gangrene of the hand following extravasation of antibiotics associated with hereditary resistance to activated protein C.

Protein C, a vitamin K-dependent potent anticoagulant, is synthesized in the liver. Hereditary resistance to activated protein C is a condition that increases the risk of thrombosis as a result of mutation in factor V gene (factor V Leiden). It is generally accepted to be associated with venous thrombosis. We present a patient who was given antibiotics via the dorsal hand veins. Venous thrombosis in the hand that ensued from the extravasation of antibiotics resulted in the formation of arterial thrombosis that eventually lead to necrosis. Factor V gene analysis showed that the patient was heterozygous for the common factor V arginine506 to glutamine mutation. To the best of our knowledge, hand necrosis due to antibiotic extravasation associated with hereditary resistance to activated protein C has not been reported previously.

Deep inferior epigastric artery (DIEA) skin flap: clinical experience of 15 cases.

Skin flaps devoid of rectus muscle, raised on a single musculocutaneous perforator (14 cases), and on two musculocutaneous perforators (1 case) of the deep inferior epigastric artery (DIEA) were used in 14 patients to cover various defects during a period of 3 years. The flaps were raised on the perforator arising slightly lateral to the centre of the muscle below the umbilicus, which is a sub-branch of the lateral branch of DIEA. The defects were located on the upper limb in four, the lower limb in nine, and the scalp and forehead in the remaining two cases. In one patient, the flap was preexpanded for 4 weeks prior to transfer. The longest flap was 40 x 12 cm, and the widest flap was 30 x 18 cm in dimension. All donor defects were closed primarily. Two flaps were lost due to venous thrombosis on the fourth postoperative day. Tip necrosis was observed in two flaps, both of which were salvaged from venous thrombosis at 36 hours and 5 days postoperatively. The remaining 11 flaps survived completely. The DIEA skin flap was found to provide the following benefits: (1) the largest available skin flap where the donor site could be closed primarily; (2) decreased possibility of abdominal wall weakness and hernia formation; and (3) potential of obtaining a thin flap either by trimming of the subcutaneous fat or by preexpansion.

The development of neovascularisation in flap perfabrication with vascular implantation: an experimental study.

Femoral arteriovenous pedicles were implanted beneath the abdominal skin in rats (n = 30) to investigate the development of neovascularisation over time. New vessel formation was assessed by micro-angiography and quantified under light microscopy. Flap viability was assessed by dye injection studies at different time intervals. Two weeks after implantation of the vascular pedicles, neovascularisation was confined to the vicinity of the arteriovenous pedicle only and none of the flaps were viable. At 4 and 6 weeks, 4 out of 6 flaps were viable, with new vessel formation being widespread throughout the subcutaneous tissue. All flaps were viable at 8 and 12 weeks. Neovascularisation in the dermis up to the epidermis was observed after 8 weeks. Neovascularisation in the panniculus carnosus showed a steady increase after 6 weeks. There was a decrease in the total number of vessels at 12 weeks compared to 8 weeks but at 12 weeks the diameters of the vessels were considerably larger. Flap survival was best predicted by the amount of neovascularisation in the panniculus carnosus. In this experimental model, it is concluded that prefabricated flaps should be raised at 8 weeks instead of 4 or 6 weeks after the implantation of an arteriovenous pedicle, to reduce the risk of flap failure.

Upper limb reconstruction with reverse flaps: a review of 52 patients with emphasis on flap selection.

Reverse flaps lend themselves to transposition from proximal to distal locations in the extremities. This series comprised 18 radial forearm flaps, 17 digital artery flaps, 13 posterior interosseous flaps, 3 lateral arm flaps, 2 dorsal digital flaps, and 1 dorsal metacarpal flap, all of which were utilized in a reverse pattern. The radial forearm flap was mainly chosen for defects involving part of the palm and the palmar aspect of the first web space. The posterior interosseous flap was more commonly utilized for resurfacing the dorsum, dorsal aspect of the first web space, and especially the hypothenar aspect of the hand. The lateral arm flap was used to reconstruct antecubital fossa and proximal forearm defects. All posterior interosseous and lateral arm donor areas were closed primarily. Sensate digital artery flaps yielded 5 mm on average static two-point discrimination in 6 to 18 months of follow-up. Functional and cosmetic results concerning the recipient and donor areas were found to be satisfactory. It was concluded that reverse flaps are versatile tools in the coverage of all kind of defects in the upper limb and should be thought of in the first place.

Anomalous flexor digitorum superficialis muscle belly: an unusual case of mass in the palm.

A case of anomalous superficialis muscle belly in the palm is presented. Nineteen such cases have been reported until now. Our case differs in that the anomalous muscle originated from the flexor digitorum superficialis tendon to the index finger by way of an accessory tendon.

Macrodactyly: report of eight cases of a rare anomaly.

Macrodactyly or megalodactyly is a rare anomaly of the extremities. Neural factors are involved in the etiology. Presented here are eight cases which comprise five macrodactylous toes and three fingers. The mean age at first referral was 6.8 years. Six patients underwent resection of the proximal phalanges together with bulk reduction of the soft tissue mass. Only soft tissue reduction was performed in the remaining two patients. Skin necrosis was observed in two cases, one of which necessitated amputation at the proximal interphalangeal joint level. The functional outcome was evaluated as poor with limited range of motion and stiffness in the joints. As far as functional results are concerned, macrodactylous toes had a better prognosis than that of fingers. It was concluded that none of the available methods as yet gives ideal functional and cosmetic results in macrodactyly.

Reinnervation and neovascularisation in prefabricated free muscle flaps.

In this study, immediate muscle reinnervation in flap prefabrication was investigated and compared with those flaps which were reinnervated after prefabrication. Using the flow-through wrap-around technique for neovascularisation, denervated external abdominal oblique random muscle flaps in Lewis rats were either immediately reinnervated by implantation of the epigastric nerve or reinnervated late after free transfer, following the prefabrication period of 15 days. Half of the flaps from each group were microsurgically transferred to isogeneic rats. Thirty days later, the flaps were harvested, and neovascularisation and reinnervation were studied with microangiography and immunohistochemistry using antibodies to protein gene peptide (PGP) 9.5, calcitonin gene-related peptide (CGRP), and von Willebrand factor (vWF). Microangiography and quantification of the vWF-stained vessels in the flaps confirmed increased neovascularisation over a longer time course. Reinnervation was found to have no influence over neovascularisation. Nerve sprouting was present 15 days after nerve implantation to the muscle and became widespread by 30 days. CGRP immunoreactivity, which is thought to have some role in trophic and regulatory processes, was observed only after 30 days of reinnervation. Regardless of the timing and extent of reinnervation, a considerable amount of muscle atrophy was observed in the flaps.

Free sensate secondary skin flaps: an experimental study on patterns of reinnervation and neovascularisation.

The main purposes of the present study were: 1) to compare differences, if any, in the patterns of reinnervation between secondary skin flaps, created either from "innervated skin grafts" or from ordinary denervated skin grafts; 2) to examine the influence of time, and the possible roles of granulation tissue and fibrosis in reinnervation following implantation of a nerve trunk into a secondary skin flap at different stages; and 3) to compare neovascularisation before and after free transfer of these flaps. Neurovascular changes were studied in a rat model by microangiography and by immunohistochemical techniques, using antisera to protein gene product 9.5 (panneural marker), to calcitonin gene-related peptide (sensory neurones) and to von Willebrand Factor (endothelial cell marker). The results indicate a potential clinical role for secondary sensate skin flaps where conventional methods of reconstruction including free neurovascular flap transfers are not available.

Expansion of fascial flaps: histopathologic changes and clinical benefits.

In order to meet the requirements of large defects created by sacral and trochanteric pressure ulcers, tensor fasciae latae and lumbosacral fasciocutaneous flaps were expanded with a silicone expander in six patients (10 flaps). In 8 of the flaps the location of pressure ulcers was trochanteric, and in 2 it was sacral. In each case the period of expansion was 4 weeks. Histopathologic examination after expansion showed an increase in the vascularity and overall thickness of fascia in both types of flaps. After 4 weeks of expansion, the perifascial areolar tissue was replaced with thick granulation tissue in the tensor fasciae latae flaps. This markedly vascular layer of granulation tissue interposed between the fasciae and the subcutaneous tissue augmented the internal matrix of the flap, thereby lowering the potential for shearing during flap elevation. Conceivably, owing to the absence of an areolar tissue layer in the lumbosacral fasciocutaneous flaps, no layer of granulation tissue was observed. The average thickness of the fibrous capsule formed around the expanders was 573.2 microns, which was composed of three structurally different zones. Prior tissue expansion obviously assisted primary closure of the flap donor site. In addition, it seems that the tissue-expansion process rendered the distal portion of fascial flaps more robust because of increased vascularity. It is therefore proposed that preparatory tissue expansion of fascial flaps has several advantages. The obvious benefits include the ability to close larger defects while closing the donor site primarily. As a result of this study, the additional benefits may include a reduction in the mechanical shear potential of these flaps and an improvement in their vascularity.

The effect of bile on the gastric mucosal barrier in the presence and after blockade of normal gastric acidity.

Induced physiologic changes in the gastric mucosa was investigated both in the presence of normal gastric acidity and after parietal cell vagotomy (PCV), in dogs. Cholecystogastrostomy and common bile duct ligation was performed in eleven and PCV was added to this procedure in five dogs. During histopathological examination, 70 days after the procedure, both groups proved to have superficial gastritis. The most prominent changes occurred at the anastomotic site and at the gastric antrum. Bile had broken down the gastric mucosal barrier and the Na+ flux roughly paralleled the H+ back diffusion. Potassium had taken part in the bi-directional movement of ions in the gastric mucosa, as well as the sodium flux, and in the late phase it accompanied the action of sodium ions. The destruction of the K+-H+ pump, possibly located in the plasma membrane, may be the responsible mechanism of this flux.