Acta Oto-Laryngologica
ISSN: 0001-6489 (Print) 1651-2251 (Online) Journal homepage: http://www.tandfonline.com/loi/ioto20
Lateral Fistulae and Cysts of the Neck: Heredity and Diagnosis H. Enbom, Å. Widström & P. Magnusson To cite this article: H. Enbom, Å. Widström & P. Magnusson (1978) Lateral Fistulae and Cysts of the Neck: Heredity and Diagnosis, Acta Oto-Laryngologica, 86:sup360, 64-66, DOI: 10.3109/00016487809123475 To link to this article: http://dx.doi.org/10.3109/00016487809123475
Published online: 08 Jul 2009.
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Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ioto20 Download by: [McMaster University]
Date: 04 April 2016, At: 00:16
Acta Otolaryngol, Suppl. 360: 64-66, 1979
LATERAL FISTULAE AND CYSTS OF T H E NECK Heredity cr ncl Dirrg nos is
family with congenital fistulae from the second cleft or pouch over four generations is described. In order to obtain some idea of how often anomalies are found in relatives of patients with this type of malformation a material embracing 114 patients has been examined. The investigation demonstrates that patients with a complete lateral fistula of the neck from the second cleft or pouch showed a heredity of 35%. whilst patients with lateral neck cysts did not show any recognizable familial tendency. Views on differential diagnosis are presented, including the value of fine-needle biopsy, where in 92% of the cases a diagnosis of branchial cysts of the neck was obtained.
Downloaded by [McMaster University] at 00:16 04 April 2016
Ahstrtrct. A
In the first month of intra-uterine life the developing neck shows a series of branchial arches with grooves in between. The internal grooves are called pharyngeal pouches and the external ones branchial clefts. Eventually the arches coalesce providing the neck with a smooth contour. When this amalgamation is disturbed, lateral neck fistulae or cysts occur. A fistula is not always complete. It can come to a blind end or develop a cystic expansion either with an orifice on the skin o r in the throat, so-called external or internal sinuses. A lateral neck cyst may be discovered between the skin and mucous membrane of the throat at any level along the fistula track. Usually the neck cyst is found below the sternocleidomastoid muscle’s anterior border and externally to the carotid’s bifurcation. Histology A fistula from the second cleft or pouch in its external portion is outlined by stratified squa-
mous epithelium but lined with columnar ciliated epithelium in its internal portion. Subepithelially, lymphoid tissue is always found and regularly also seromucous salivary gland tissue. The fistula track is covered by a thin layer of striped muscle that unites externally with the platysma and internally runs into the palatopharyngeal muscle. A cyst from the second cleft or pouch is covered with stratified squamous epithelium if it lies externally and, if it is deeply situated, columnar (sometimes ciliated) epithelium. Lymphatic tissue is found around the cyst, whose content is viscous, with a high content of cholesterol. Along the whole of its track a cervico-auricular fistula is furnished with a stratified, horny squamous epithelium. In the track, follicles emerge and in the stroma are found sebaceous glands and sweat glands. A cyst from the first branchial cleft has the characteristics of a dermoid cyst. A report o n kin The reason for our interest in the hereditary side here was that one of the authors has seven relatives with lateral neck fisulae, covering four generations (Fig. 1). The course of the fistula track has in all cases been that typical for neck fistulae from the second branchial cleft and histologically in all cases the picture has been the usual, with stratified squamous epithelium externally with columnar epithelium in the internal section of the fistula track and the surrounding lymphoid tissues.
Lcrtc.icrlJi'.~tulaerriicl cysts of the neck
Q Q @
65
ported above are not included in this material, nor are the relatives of the 114 patients operated on. These cases fall into 70 lateral neck cysts, 40 fistulae from the second pouch or cleft, and 4 cervico-auricular fistulae from the first pouch or cleft. No case has been traced of fistula or cyst from the third of fourth pouch or cleft (Fig. 2 ) . Of the 70 patients operated on for neck cysts it has been possible to contact 63-it was not considered reasonable to rely entirely on the information given in the case journals, with regard to the presence of possible malformations in the kindred. Two of the 63 cases proved to be of interest here; in one of these the maternal grandmother was stated to have had "tuberculosis" on the neck, and in the other case the same was reported for the maternal grandmother's sister. It has been impossible to verify the diagnoses. The remaining 61 people can recall no kin with a fistula or swelling on the neck. Of the 40 patients operated on for neck fistula from the second pouch or cleft it was possible to interview 35. Complete lateral neck fistula was found in 25 of these, whilst the remaining 10 had external sinus. Of these 3 5 , 10 were able to recollect one or more relatives with fistula of the neck. None of the four with cervico-auricular fistula knew of any kindred suffering from fistula or cyst on the neck. The investigation of the material presented here has thus shown a heredity of 3S% for
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I
9
9
9
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d ' Q Q d d d $ ? * Q F;,q, I . Kindred. Seven cases of branchial fistulas in four
Downloaded by [McMaster University] at 00:16 04 April 2016
generations of one family.
A perusal of the literature has revealed that a number of authors (among others Bedoni, 1962; Binn, 1965; Bourget, 1966; Rowley, 1969: Wheeler, 1958) have described neck fistulae over several generations but, so far as we have been able to discover, only one kin up to four generations has been reported (Bohme, 1960). Often described in these articles is the simultaneous occurrence of pre-auricular fistulae, deformed outer ears (floppy ears), prearticular pits, and conductive hearing loss due to malformation of the ossicles, and mandibular hypoplasia suggesting simultaneous involvement of the first two branchial arches. In the kin described here, in addition to the fistulae from the second branchial cleft or pouch, there are also pre-auricular fistulae in 3 cases and, in one case, a slight degree of mandibular hypoplasia. All of them have undergone audiological investigation but no case of conductive hearing loss has been demonstrated and no defect of the ossicles seems likely in the material. The inheritability of lateral neck fisulae from the second cleft or pouch has been reported (Alasdair, 1973) as being dominant, with reduced penetrance.
In order to gain some idea of how often fistulae or cysts appear in several generations, a retrospective material of 1 14 patients operated on for fistulae or cysts during the period 1 9 6 4 77 inclusive, at the Regional Hospital, Orebro, has been investigated. Those in the kin re5- 7X3X56
I
1
1r1ve.stigtrtiori qf hc.iiclit-y
25
Y ' ri l"l
If
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I
I
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Fig 2 Material from the Regional Hospital, Orebro, Sweden. Lateral fistulae and cysts of the neck, 1964-77
Downloaded by [McMaster University] at 00:16 04 April 2016
66
H . Enboin
rt
crl.
complete fistulae from the second pouch or cleft but no reliable evidence in regard to lateral neck cysts.
ment, accompanied by the clinical picture and the exact location.
Ditig nost ic MI lu e of f i n e-t I re tllr biopsy Differential diagnosis of fistula with the orifice externally on the neck seldom creates any problems. But when a cystic resistance of the neck is present, there are quite a lot of diagnostic alternatives to consider. Although these will not be gone into here it is worth mentioning one patient who was operated for a lateral neck cyst, having earlier been treated with tuberculostatics for a diagnosis of “cervical tuberculoma” . In recent years, in the investigation of suspected cysts, fine-needle biopsy has been used regularly. In order to evaluate the diagnostic accuracy the cyst material has been searched for this purpose also. Of the total of 70 patients, 55 underwent preoperative-fine-needle biopsy. Cytologic investigation produced a preoperative diagnosis of lateral neck cyst in 51 (92%)) of these. In the remaining 4 patients the cytological diagnoses recorded a reactive proliferative process, malignity. atheroma, and necrotic material. These diagnoses have been rechecked and confirmed. In the first two diagnoses, inflamed neck cysts were concerned, where the diagnosis cannot always be made without a risk of overdiagnosis. The possibility of a cystic transformed metastasis of stratified epithelial cancer must, however, be taken into account. Thus in the assessment of the cytology report it is necessary that the cytological diagnosis shall agree with the clinical picture. The cytological diagnosis in fineneedle biopsy is made a great deal easier if, when the biopsy is carried out, both air-dried and spirit-fixed material is sent for assess-
ZUSAMMENFASSUNG Nach einer topographischen und embryologischen Vorstellung von kongenitalen Halsfisteln und -zysten wird eine Familie mit kongenitalen Halsfisteln des 2. Kiemengangs in vier Generationen prasentiert. Urn festzustellen, wie oft disese Anomalie bei Anverwandten der Patienten mit dieser Art von MiSbildungen vorkommt, wurde ein retrospektives Studium gemacht. Die Untersuchung ergab eiiie positive Heriditat in 35 % bei Patienten mit kompletten kongenitalen Halsfisteln des 2 . Kiemengangs, dagegen keine familiare Haufung bei Patienten mit lateralen Halszysten. Differentialdiagnostische Gesichtspunkte werden vorgelegt, unter anderem der diagnostische Wert der Franzenpunktion bei lateralen Halszystem, wobei die Diagnose in 92% der Fille praoperatif korrekt gestellt war.
REFERENCES Alasdair, G. W. 1973. Inheritance of branchial sinuses and preauricular fistulae. Terurology 9 , 225. Bedoni, C. & Zibordi, F. 1962. Congenital fistulas of the neck and preauricular region with special description of an observation of Familar nature: 5 cases in two generations. Ann Otol Rhino/ Lorytzgol 6 1 , 229. Binn, P. M . & Lord, 0. C. 1965. Five cases of bilateral branchial fistulas in three generations of one family. J Ltrrvngol Otol 79, 455. Bourguet, J . , Mazeas, R. & Lehuerou, Y. 1966. De I’atteinte des deux premiers tentes et des deux premiers arcs branchiaux. Ann Otoltiryrigol Chir Cervico,fnc 83, no. 4-5, 317. Bohme, G. 1960. Uber einen Fall von bilat symmetrische Ohren-Halsfisteln mit Heriditat uber vier Generationen. Arch Klin El-p 0hrc.11 N o s e n Kehlkopfheilkd 8. 359. Rowley, P. T. 1969. Familial hearing loss associated with branchial fistulas. Petlititric,,s 4 4 . no. 6. 978. Wheeler, C. E.. Shaw. R. & Cowley, E. P. 1958. Branchial anomalies in three generations of one family. Arch Derrncitol 77. 7 1S . H . Etibotn
E N T Deptirrrnent OrehRJ Hospitol S-70185 Orebro Sweden
ISSN: 0001-6489 (Print) 1651-2251 (Online) Journal homepage: http://www.tandfonline.com/loi/ioto20
Lateral Fistulae and Cysts of the Neck: Heredity and Diagnosis H. Enbom, Å. Widström & P. Magnusson To cite this article: H. Enbom, Å. Widström & P. Magnusson (1978) Lateral Fistulae and Cysts of the Neck: Heredity and Diagnosis, Acta Oto-Laryngologica, 86:sup360, 64-66, DOI: 10.3109/00016487809123475 To link to this article: http://dx.doi.org/10.3109/00016487809123475
Published online: 08 Jul 2009.
Submit your article to this journal
Article views: 4
View related articles
Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=ioto20 Download by: [McMaster University]
Date: 04 April 2016, At: 00:16
Acta Otolaryngol, Suppl. 360: 64-66, 1979
LATERAL FISTULAE AND CYSTS OF T H E NECK Heredity cr ncl Dirrg nos is
family with congenital fistulae from the second cleft or pouch over four generations is described. In order to obtain some idea of how often anomalies are found in relatives of patients with this type of malformation a material embracing 114 patients has been examined. The investigation demonstrates that patients with a complete lateral fistula of the neck from the second cleft or pouch showed a heredity of 35%. whilst patients with lateral neck cysts did not show any recognizable familial tendency. Views on differential diagnosis are presented, including the value of fine-needle biopsy, where in 92% of the cases a diagnosis of branchial cysts of the neck was obtained.
Downloaded by [McMaster University] at 00:16 04 April 2016
Ahstrtrct. A
In the first month of intra-uterine life the developing neck shows a series of branchial arches with grooves in between. The internal grooves are called pharyngeal pouches and the external ones branchial clefts. Eventually the arches coalesce providing the neck with a smooth contour. When this amalgamation is disturbed, lateral neck fistulae or cysts occur. A fistula is not always complete. It can come to a blind end or develop a cystic expansion either with an orifice on the skin o r in the throat, so-called external or internal sinuses. A lateral neck cyst may be discovered between the skin and mucous membrane of the throat at any level along the fistula track. Usually the neck cyst is found below the sternocleidomastoid muscle’s anterior border and externally to the carotid’s bifurcation. Histology A fistula from the second cleft or pouch in its external portion is outlined by stratified squa-
mous epithelium but lined with columnar ciliated epithelium in its internal portion. Subepithelially, lymphoid tissue is always found and regularly also seromucous salivary gland tissue. The fistula track is covered by a thin layer of striped muscle that unites externally with the platysma and internally runs into the palatopharyngeal muscle. A cyst from the second cleft or pouch is covered with stratified squamous epithelium if it lies externally and, if it is deeply situated, columnar (sometimes ciliated) epithelium. Lymphatic tissue is found around the cyst, whose content is viscous, with a high content of cholesterol. Along the whole of its track a cervico-auricular fistula is furnished with a stratified, horny squamous epithelium. In the track, follicles emerge and in the stroma are found sebaceous glands and sweat glands. A cyst from the first branchial cleft has the characteristics of a dermoid cyst. A report o n kin The reason for our interest in the hereditary side here was that one of the authors has seven relatives with lateral neck fisulae, covering four generations (Fig. 1). The course of the fistula track has in all cases been that typical for neck fistulae from the second branchial cleft and histologically in all cases the picture has been the usual, with stratified squamous epithelium externally with columnar epithelium in the internal section of the fistula track and the surrounding lymphoid tissues.
Lcrtc.icrlJi'.~tulaerriicl cysts of the neck
Q Q @
65
ported above are not included in this material, nor are the relatives of the 114 patients operated on. These cases fall into 70 lateral neck cysts, 40 fistulae from the second pouch or cleft, and 4 cervico-auricular fistulae from the first pouch or cleft. No case has been traced of fistula or cyst from the third of fourth pouch or cleft (Fig. 2 ) . Of the 70 patients operated on for neck cysts it has been possible to contact 63-it was not considered reasonable to rely entirely on the information given in the case journals, with regard to the presence of possible malformations in the kindred. Two of the 63 cases proved to be of interest here; in one of these the maternal grandmother was stated to have had "tuberculosis" on the neck, and in the other case the same was reported for the maternal grandmother's sister. It has been impossible to verify the diagnoses. The remaining 61 people can recall no kin with a fistula or swelling on the neck. Of the 40 patients operated on for neck fistula from the second pouch or cleft it was possible to interview 35. Complete lateral neck fistula was found in 25 of these, whilst the remaining 10 had external sinus. Of these 3 5 , 10 were able to recollect one or more relatives with fistula of the neck. None of the four with cervico-auricular fistula knew of any kindred suffering from fistula or cyst on the neck. The investigation of the material presented here has thus shown a heredity of 3S% for
I d d 9 Q ?
d
I
9
9
9
9
d
9
I - - t - + l ' l - l A
d ' Q Q d d d $ ? * Q F;,q, I . Kindred. Seven cases of branchial fistulas in four
Downloaded by [McMaster University] at 00:16 04 April 2016
generations of one family.
A perusal of the literature has revealed that a number of authors (among others Bedoni, 1962; Binn, 1965; Bourget, 1966; Rowley, 1969: Wheeler, 1958) have described neck fistulae over several generations but, so far as we have been able to discover, only one kin up to four generations has been reported (Bohme, 1960). Often described in these articles is the simultaneous occurrence of pre-auricular fistulae, deformed outer ears (floppy ears), prearticular pits, and conductive hearing loss due to malformation of the ossicles, and mandibular hypoplasia suggesting simultaneous involvement of the first two branchial arches. In the kin described here, in addition to the fistulae from the second branchial cleft or pouch, there are also pre-auricular fistulae in 3 cases and, in one case, a slight degree of mandibular hypoplasia. All of them have undergone audiological investigation but no case of conductive hearing loss has been demonstrated and no defect of the ossicles seems likely in the material. The inheritability of lateral neck fisulae from the second cleft or pouch has been reported (Alasdair, 1973) as being dominant, with reduced penetrance.
In order to gain some idea of how often fistulae or cysts appear in several generations, a retrospective material of 1 14 patients operated on for fistulae or cysts during the period 1 9 6 4 77 inclusive, at the Regional Hospital, Orebro, has been investigated. Those in the kin re5- 7X3X56
I
1
1r1ve.stigtrtiori qf hc.iiclit-y
25
Y ' ri l"l
If
IL
I
I
t l w I1
9
X nI
?">Ia 1
(
t l i
I
0
Fig 2 Material from the Regional Hospital, Orebro, Sweden. Lateral fistulae and cysts of the neck, 1964-77
Downloaded by [McMaster University] at 00:16 04 April 2016
66
H . Enboin
rt
crl.
complete fistulae from the second pouch or cleft but no reliable evidence in regard to lateral neck cysts.
ment, accompanied by the clinical picture and the exact location.
Ditig nost ic MI lu e of f i n e-t I re tllr biopsy Differential diagnosis of fistula with the orifice externally on the neck seldom creates any problems. But when a cystic resistance of the neck is present, there are quite a lot of diagnostic alternatives to consider. Although these will not be gone into here it is worth mentioning one patient who was operated for a lateral neck cyst, having earlier been treated with tuberculostatics for a diagnosis of “cervical tuberculoma” . In recent years, in the investigation of suspected cysts, fine-needle biopsy has been used regularly. In order to evaluate the diagnostic accuracy the cyst material has been searched for this purpose also. Of the total of 70 patients, 55 underwent preoperative-fine-needle biopsy. Cytologic investigation produced a preoperative diagnosis of lateral neck cyst in 51 (92%)) of these. In the remaining 4 patients the cytological diagnoses recorded a reactive proliferative process, malignity. atheroma, and necrotic material. These diagnoses have been rechecked and confirmed. In the first two diagnoses, inflamed neck cysts were concerned, where the diagnosis cannot always be made without a risk of overdiagnosis. The possibility of a cystic transformed metastasis of stratified epithelial cancer must, however, be taken into account. Thus in the assessment of the cytology report it is necessary that the cytological diagnosis shall agree with the clinical picture. The cytological diagnosis in fineneedle biopsy is made a great deal easier if, when the biopsy is carried out, both air-dried and spirit-fixed material is sent for assess-
ZUSAMMENFASSUNG Nach einer topographischen und embryologischen Vorstellung von kongenitalen Halsfisteln und -zysten wird eine Familie mit kongenitalen Halsfisteln des 2. Kiemengangs in vier Generationen prasentiert. Urn festzustellen, wie oft disese Anomalie bei Anverwandten der Patienten mit dieser Art von MiSbildungen vorkommt, wurde ein retrospektives Studium gemacht. Die Untersuchung ergab eiiie positive Heriditat in 35 % bei Patienten mit kompletten kongenitalen Halsfisteln des 2 . Kiemengangs, dagegen keine familiare Haufung bei Patienten mit lateralen Halszysten. Differentialdiagnostische Gesichtspunkte werden vorgelegt, unter anderem der diagnostische Wert der Franzenpunktion bei lateralen Halszystem, wobei die Diagnose in 92% der Fille praoperatif korrekt gestellt war.
REFERENCES Alasdair, G. W. 1973. Inheritance of branchial sinuses and preauricular fistulae. Terurology 9 , 225. Bedoni, C. & Zibordi, F. 1962. Congenital fistulas of the neck and preauricular region with special description of an observation of Familar nature: 5 cases in two generations. Ann Otol Rhino/ Lorytzgol 6 1 , 229. Binn, P. M . & Lord, 0. C. 1965. Five cases of bilateral branchial fistulas in three generations of one family. J Ltrrvngol Otol 79, 455. Bourguet, J . , Mazeas, R. & Lehuerou, Y. 1966. De I’atteinte des deux premiers tentes et des deux premiers arcs branchiaux. Ann Otoltiryrigol Chir Cervico,fnc 83, no. 4-5, 317. Bohme, G. 1960. Uber einen Fall von bilat symmetrische Ohren-Halsfisteln mit Heriditat uber vier Generationen. Arch Klin El-p 0hrc.11 N o s e n Kehlkopfheilkd 8. 359. Rowley, P. T. 1969. Familial hearing loss associated with branchial fistulas. Petlititric,,s 4 4 . no. 6. 978. Wheeler, C. E.. Shaw. R. & Cowley, E. P. 1958. Branchial anomalies in three generations of one family. Arch Derrncitol 77. 7 1S . H . Etibotn
E N T Deptirrrnent OrehRJ Hospitol S-70185 Orebro Sweden
