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PubMed1995

Ectopic breast tissue, supernumerary breasts, and supernumerary nipples.

This article will review the embryology, clinical presentation, diagnosis, treatment, and clinical significance of ectopic breast tissue, supernumerary breasts, and supernumerary nipples. These structures most commonly develop along the embryonic "milk line." Supernumerary nipples can be identified at birth, whereas ectopic breast tissue becomes noticeable only after hormonal stimulation, usually during puberty, pregnancy, or lactation. Axillary ectopic breast tissue may provide a diagnostic challenge, as other benign and malignant lesions occur in this area. Fine needle aspiration is a useful tool. Ectopic breast tissue is subject to the same pathologic events that occur in normally positioned breasts. Excision may be required for diagnosis, treatment of symptoms, or cosmesis. Supernumerary nipples do not themselves pose diagnostic or symptomatic problems, but evidence suggests that they are markers for associated conditions, most notably urologic malformations or urogenital malignancies.

Breast↗
PubMed2003

Bladder dysfunction after bilateral ectopic ureterocele repair.

PURPOSE: We examined postoperative outcome, with emphasis on bladder function, in pediatric patients who underwent bilateral ectopic ureterocele repair. MATERIAL AND METHODS: We reviewed the records of 117 patients with orthotopic and ectopic ureteroceles treated between 1977 and 2000. Twelve of these patients had bilateral ectopic ureteroceles. All patients with bilateral ureteroceles were females 1 day to 2 years old at referral. Initial treatment was transureteral puncture in 6 cases, transurethral unroofing in 2 and extravesical bilateral reimplantation in 1. Of the remaining 3 patients the initial treatment was unilateral heminephroureterectomy in 1 and bilateral heminephroureterectomy in 2. Definitive treatment included bilateral upper to lower ureteroureterostomy, ureterocelectomy with trigonal and bladder neck reconstruction, and bilateral ureteroneocystotomy with or without tapering of the recipient ureter. In patients who underwent upper pole partial nephrectomy the distal upper pole ureter was removed in conjunction with trigonal surgery and ureteroneocystotomy. RESULTS: There was significant morbidity in this group of patients, including voiding dysfunction and poor bladder emptying with residual urine greater than 20% of bladder capacity in 7 of 10 patients studied by serial bladder ultrasonography. Urodynamic evaluation in 3 patients revealed increased bladder compliance and large volume residual urine. Of these 3 patients 2 perform clean intermittent catheterization. Recurrent symptomatic bacteruria was noted in 7 of the 12 patients. CONCLUSIONS: Patients undergoing bilateral ectopic ureterocele repair are at increased risk for postoperative voiding dysfunction. Whether this risk is present preoperatively or is a result of trigonal surgery is unclear.

Child, Preschool↗
PubMed2004

Ectopic liver and hepatocarcinogenesis.

Hepatocellular carcinomata are relatively rare in the western hemisphere, but they are much more common in South-East Asia and sub-Saharan Africa due to high endogenous levels of hepatitis B and C. Ectopic liver tissue usually is found incidentally (frequently at cholecystectomy), but it may also be found due to neoplastic changes or compressive effects. Ectopic liver tissue has an increased neoplastic potential over orthotopic liver, which we postulate is due to compromised vascular supply and biliary drainage. These lesions may be susceptible to surgical resection, although long-term follow-up data are poor. Ectopic or accessory liver tissue is a rare condition. Most commonly, it is found incidentally, but it may also be found as a result of neoplasia or compressive effects. These lesions appear to have an increased potential for the development of hepatocellular carcinoma in the absence of malignancy in the mother liver. Due to their anatomical features, these carcinomata appear to be susceptible to curative resection, although long-term follow-up data are poor. These carcinomata have been reported more frequently from South-East Asia than from Western countries; however, the common risk factors for hepatocellular carcinoma, such as infection with hepatitis B or C and cirrhosis, appear to be less implicated than in carcinomata of the orthotopic liver. In ectopic or accessory liver tissue, development of hepatocellular carcinoma may be the result of compromised vascular supply or biliary drainage.

Carcinoma, Hepatocellular↗
PubMed2004

Ectopic liver and hepatocarcinogenesis: report of three cases with four years' follow-up.

Hepatocellular carcinoma (HCC) may arise in ectopic livers, which are autonomous islands of normal liver parenchyma located in the abdomen or thorax. The majority of HCCs in ectopic livers are reported in oriental patients. We describe here three new cases of HCC in Caucasian patients. The clinical presentation varied from dull epigastric pain in one patient, to abrupt onset with signs and symptoms of acute abdomen caused by intra-abdominal bleeding in another patient, to an unexplained progressive increase of alpha-fetoprotein serum levels in a third patient. None had risk factors for HCC or liver disease. One of the patients developed HCC at age 34 years; she is the youngest patient ever described to develop HCC in ectopic liver. Our data further strengthen the hypothesis that ectopic livers are particularly predisposed to developing HCC. The patients were followed up for 4 years after surgery: two remain free of disease, suggesting that the unique localisation and growth pattern may render these tumours particularly susceptible to curative resection.

Adult↗
PubMedDate not supplied

Ectopic bone formation in children and adolescents with head injuries: its management.

During an 11-year prospective study at Kennedy Memorial Hospital for Children (Brighton, MA), ectopic bone formation occurred in 22 of 145 children and adolescents admitted in coma following head injury. Subsequent deformities and limitation of motion were an impediment to rehabilitation in 15 of these patients, who recovered from the coma. Several bone excision procedures, either alone or in conjunction with other physical and/or pharmacological modes of treatment, were followed by recurrence of ectopic bone until salicylates were used. The latter eliminated or minimized recurrence of ectopic bone. The study suggests a useful role for salicylates not only in preventing recurrence, but also in minimizing the occurrence of ectopic bone formation in these patients.

Adolescent↗
PubMed1996

Ectopic E2F expression induces S phase and apoptosis in Drosophila imaginal discs.

Previous experiments suggest that a key event in the commitment of cultured mammalian cells to entering S phase is a rise in activity of the transcription factor E2F. In this report, we study the role of Drosophila E2F in imaginal disc cells in vivo, by examining the distribution of the endogenous protein and studying the consequences of ectopic E2F expression. First, we find that endogenous E217 falls from high to very low levels as cells initiate DNA synthesis during a developmentally regulated G1-S-transition in the eye disc. Second, we find that ectopic E2F expression drives many otherwise quiescent cells to enter S phase. Subsequently, cells throughout the discs express reaper (a regulator of apoptosis) and then die. Third, we find that ectopic E2F expression during S phase in normally cycling cells blocks their re-entry into S phase in the following cell cycle. Although we do not know the fate of these cells, we suspect that ultimately they are killed by ectopic E2F. Taken together, our results show that an elevation in the level of E2F is sufficient to induce imaginal disc cells to enter S phase. Furthermore, they suggest that the downregulation of E2F upon entry into S phase may be essential to prevent the induction of apoptosis.

Animals↗
PubMed1999

Six3 overexpression initiates the formation of ectopic retina.

The homeobox gene sine oculis (so) is essential for visual system formation in Drosophila. A vertebrate member of the so/Six gene family, Six3, is expressed in the developing eye and forebrain. Injection of Six3 RNA into medaka fish embryos causes ectopic Pax6 and Rx2 expression in midbrain and cerebellum, resulting in the formation of ectopic retinal primordia. Injected mouse Six3 RNA initiates ectopic expression of endogenous medaka Six3, uncovering a feedback control of Six3 expression. Initiation of ectopic retina formation reveals a pivotal role for Six3 in vertebrate retina development and hints at a conserved regulatory network underlying vertebrate and invertebrate eye development.

Animals↗
PubMed2000

Ectopic deposition of lignin in the pith of stems of two Arabidopsis mutants.

The biosynthesis of lignin in vascular plants is regulated both developmentally and environmentally. In the inflorescence stems of Arabidopsis, lignin is mainly deposited in the walls of xylem cells and interfascicular fiber cells during normal plant growth and development. The mechanisms controlling the spatial deposition of lignin remain unknown. By screening ethyl methanesulfonate-mutagenized populations of Arabidopsis, we have isolated two allelic elp1 (ectopic deposition of lignin in pith) mutants with altered lignin deposition patterns. In elp1 stems, lignin was ectopically deposited in the walls of pith parenchyma cells in addition to its normal deposition in the walls of xylem and fiber cells. Lignin appeared to be deposited in patches of parenchyma cells in the pith of both young and mature elp1 stems. The ectopic deposition of lignin in the pith of elp1 stems was accompanied by an increase in the activities of enzymes in the lignin biosynthetic pathway and with the ectopic expression of caffeoyl coenzyme A O-methyltransferase in pith cells. These results indicate that the ELP1 locus is involved in the repression of the lignin biosynthetic pathway in the pith. Isolation of the elp1 mutants provides a novel means with which to study the molecular mechanisms underlying the spatial control of lignification.

Arabidopsis↗
PubMed2004

Benign ectopic thyroid tissue in a cutaneous location: a case report and review.

BACKGROUND: For many years, lateral, aberrant thyroid tissue in adults was a term used almost exclusively for metastatic thyroid carcinoma. However, aberrant, benign ectopic thyroid tissue does occur, and it is most commonly found as a part of the evaluation of endocrine dysfunction. Rarely, aberrant, benign ectopic thyroid presents as a primary mass. CASE REPORT: We present a 35-year-old female who presented for removal of a lifelong posterior lateral neck nodule. RESULTS: Histologic examination and immunohistochemical studies confirmed the presence of aberrant, benign ectopic thyroid tissue. The patient had no endocrine problems, and she had a normally located and functioning thyroid gland. CONCLUSIONS: This case illustrates that not all aberrant thyroid tissues in adults are malignant or associated with endocrine disorders. This case also illustrates the rare association of ectopic thyroid and a normally located and functioning thyroid gland. In this patient, a somatic mutation in a transcription factor important in thyroid migration could explain these findings.

Adult↗
PubMed2005

Transgene-triggered, epigenetically regulated ectopic expression of a flower homeotic gene pMADS3 in Petunia.

pMADS3 is a class C floral homeotic gene of Petunia that is specifically expressed in stamens and carpels of developing flowers. We previously reported that introduction of a part of the pMADS3 genomic sequence silenced endogenous pMADS3 (sil-pMADS3) in transgenic Petunia hybrida. Here we report that introduction of the same sequence triggers ectopic expression of endogenous pMADS3 in sepals, petals and leaves (ect-pMADS3), accompanied by homeotic conversion of the floral organs and altered leaf morphology similar to that of an Arabidopsis curly leaf mutant. The occurrence of the ect-pMADS3 phenotype depended on the presence of pMADS3 intron 2 in the transgenes. Occasionally, sil-pMADS3 and ect-pMADS3 phenotypes somatically interconverted. Some T1 progeny inherited their parent's pMADS3 expression pattern, while others switched from sil-pMADS3 to ect-pMADS3 and vice versa. Both phenotypes occasionally occurred even after the transgenes were segregated away. RT-PCR analyses of ectopically expressed pMADS3 transcripts indicated that two pMADS3 alleles were often differently regulated. Furthermore, reciprocal crosses with untransformed Petunia indicated that pMADS3 alleles other than the one ectopically expressed in T0 plants were sometimes expressed ectopically in T1 plants: the paramutation-like transmission of epigenetic regulation between alleles. We detected in the transformants aberrant transcripts, including sense and antisense pMADS3 intron 2 sequences of heterogeneous molecular sizes, irrespective of the pMADS3 phenotypes. We speculate on possible molecular mechanisms underlying these epigenetic phenomena.

Chromosome Mapping↗
PubMed2005

Activation of Rac1 or Cdc42 during early morphogenesis of eye discs induces ectopic antennae in Drosophila.

The Rho family small guanosine triphosphatases (GTPases) play important roles in many cellular processes, especially in regulation of cytoskeletal organization. In this study, I examined the functions of Rac1 and Cdc42 for disc morphogenesis in Drosophila. I expressed either a constitutively active form or a dominant negative form of each protein during early morphogenesis of eye discs. Inactivation of Rac1 or Cdc42 resulted in small eye phenotypes. On the other hand, I found that activation of either Rac1 or Cdc42 induces ectopic antennae. In some cases, an almost complete antenna was observed instead of an eye, which was possibly transformation from an eye to an antenna. As a molecular evidence for the ectopic antennae, I found that the Distal-less protein, which is essential for the distalization process, was ectopically induced in the eye discs. I also found that the Decapentaplegic and Wingless proteins, which are upstream morphogenetic signaling proteins of the distalization process, could be ectopically induced by activation of Rac1 or Cdc42. My observations suggest novel functions of Rac1 and Cdc42 for disc morphogenesis.

Animals↗
PubMed1986

Intra-cholecystic ectopic liver.

A 56-year-old Japanese woman who had an ectopic liver attached to the inner surface of the gallbladder is reported. The ectopic nodule measuring 1.2 X 0.5 X 0.8 cm was found incidentally when her gallbladder was resected because of cholelithiasis. Ectopic liver tissue in reported cases war located on the serosal surface, or in the wall of the gallbladder. This report described, to our knowledge, the first case of an ectopic liver nodule attached to the mucosal surface of the gallbladder with a thin pedicle.

Choristoma↗
PubMed2006

Laparoscopic management of a transitional cell carcinoma arising in a right ectopic ureter.

Ectopic ureter is a rare abnormality, so presenting a transitional cell carcinoma (TCC) arising from an ectopic ureter is extremely rare. We report here a case of a man with an invasive transitional cell carcinoma arising from a right ectopic ureter and managed by laparoscopy. To our knowledge, this is the fourth case described in the literature, and the second case of a TCC arising in a right ectopic ureter.

Carcinoma, Transitional Cell↗
PubMedDate not supplied

Ectopic cilium in seven horses.

Ectopic cilium was diagnosed by slit-lamp biomicroscopy and treated surgically by transconjunctival excision in seven adult horses. All cases presented with a common history of blepharospasm, ocular discharge and keratitis. Ophthalmic examination revealed a single translucent cilium in the upper eyelid palpebral conjunctiva, emerging approximately 5 mm from the eyelid margin. Corneal ulceration was not observed in any horse. Most horses responded well to transconjunctival surgical excision. There was recurrence of ectopic cilium 6 weeks postoperatively in one horse. Histopathologic examination was performed in two cases and confirmed the diagnosis of ectopic cilium in one horse. This is the first publication of ectopic cilia in horses and emphasizes their importance as etiology for epiphora, blepharospasm and keratitis.

Animals↗
PubMedDate not supplied

Use of a dermal biopsy punch for removal of ectopic cilia in dogs: 19 cases.

OBJECTIVE: To evaluate the use of a dermal biopsy punch for accurate and quick removal of ectopic cilia in dogs. ANIMALS STUDIED: This study reports the treatment of ectopic cilia detected in 12 dogs during the period from June 2002 to December 2004. Five cases were affected with ectopic cilia in the right eye, and five in the left eye, with two cases affected bilaterally. Nineteen ectopic cilia were detected in 12 dogs. PROCEDURE: The technique described in this study consists of using a 2-3-mm skin biopsy punch with the aid of an operating microscope. RESULTS: No recurrence was noted in any of the cases. The presurgical blepharospasm due to the presence of the cilia resolved as well as uneventful corneal healing of any associated corneal erosions or ulcers. CONCLUSIONS: This method offers a simple, practical alternative to the traditional scalpel procedure as described in the veterinary ophthalmic literature.

Animals↗
PubMed1995

Pseudoureterocele: potential for misdiagnosis of an ectopic ureter as a ureterocele.

OBJECTIVE: To present several case reports of children with 'pseudoureteroceles'. Familiarization with this entity should help to avoid an error in diagnosis and possible improper therapy. PATIENTS AND METHODS: Three girls with ectopic ureters entering mesonephric duct cysts are presented for review. RESULTS: Misdiagnosis of the pseudoureterocele as an ectopic ureter was made in two children. The 'pseudoureterocele' may lie dormant for many years and often presents with acute urinary incontinence and/or onset of urinary tract infections. Resection of the dysplastic kidney and ipsilateral ureter, marsupialization of the cyst into the vagina, and closure of the vesical fistula is the preferred treatment. CONCLUSION: An ectopic ureter draining into a Gartner's duct cyst can be confused with an ectopic ureterocele. Correct diagnosis is vital to ensure proper treatment.

Adolescent↗
PubMed2004

Transurethral incision of duplex system ureteroceles in neonates: does it increase the need for secondary surgery in intravesical and ectopic cases?

OBJECTIVE: To evaluate the relevance of ureterocele ectopia and associated reflux on the outcome of duplex system ureteroceles (DSU) after neonatal transurethral incision (TUI). PATIENTS AND METHODS: The study included 41 neonates with a diagnosis of DSU; the ureterocele was ectopic in 24 (58%). Before TUI, vesico-ureteric reflux (VUR) was present in 13 lower moieties (32%) and seven contralateral ureters (17%). TUI was always performed within the first month of life. The follow-up and management were tailored for each patient from the findings at ultrasonography, voiding cysto-urethrography and renal scintigraphy. Results of intravesical and ectopic DSU were compared using Fisher's exact test. RESULTS: TUI was effective in allowing ureteric decompression in all but one patient (2.4%). After TUI, VUR ceased in six lower ipsilateral moieties and in two contralateral ureters, while new VUR occurred in three contralateral kidneys. De novo VUR in the punctured moiety appeared in 13 cases (32%). Nine upper poles were not functioning. Twenty-one patients (51%) required secondary surgery. Ureteric reimplantation was indicated exclusively for reflux in the punctured moiety in only in two cases (5%), while in a further two iatrogenic reflux in a nonfunctioning upper moiety required total heminephro-ureterectomy. There was no significant difference between intravesical and ectopic ureteroceles in the occurrence of VUR in the punctured moiety, rate of nonfunctioning upper poles or need for secondary surgery. CONCLUSIONS: About half of the patients with a DSU need secondary surgery, but this is rarely indicated for de novo reflux in the punctured moiety only. The need for secondary surgery was greater whenever there was associated reflux before endoscopic incision. There was no difference in the outcome of intravesical and ectopic ureteroceles and such distinction seems no longer to be of clinical relevance.

Female↗
PubMedDate not supplied

A rare association of synchronous intraductal carcinoma of the breast and invasive carcinoma of ectopic breast tissue of the vulva: case report and literature review.

Only 17 cases of breast carcinoma arising in vulvar ectopic mammary tissue have been reported. We present a unique case of synchronous pure intraductal carcinoma of the breast (DCIS) and invasive carcinoma of ectopic breast tissue of the vulva. A 53-year-old woman presented with a 2-cm nodule in left labium major of the vulva. A surgical biopsy revealed an invasive carcinoma of ectopic mammary tissue. The mammography showed irregular microcalcifications of the right breast. The patient underwent left hemivulvectomy, bilateral inguinal sentinel lymph node biopsy, and radioguided breast resection (radioguided occult lesion localization) of the microcalcifications. The definitive histology revealed negative inguinal sentinel nodes, no further residual tumor in the vulva, and a high-grade (grade 3) DCIS in the breast. The synchronous occurrence of primary breast carcinoma and ectopic breast tissue carcinoma in the vulva is an extremely rare finding, only once previously being reported and leading to unsolved problems of differential diagnosis. The presence of a pure DCIS of the breast makes this case really unique, definitively confirming the independent primary origin of both mammary tumors. The inguinal sentinel node biopsy avoided a bilateral inguinal dissection.

Breast↗