Congenital double lip and ascher syndrome: II. Relationship to the lower lip sinus syndrome

Congenital double lip and ascher syndrome: II. Relationship to the lower lip sinus syndrome

Congenital Double Lip and Ascher Syndrome: II. Relationship to the Lower Lip Sinus Syndrome A. E. RINTALA Department of Plastic Surgery, Finnish R...

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Congenital Double Lip and Ascher Syndrome: II. Relationship to the Lower Lip Sinus Syndrome A. E. RINTALA Department

of Plastic

Surgery,

Finnish

Red Cross Cleft Centre,

Helsinki,

Finland

Two rare lip malformations interest both the geneticist and the plastic surgeon; the lower lip sinus syndrome described in the first part of this paper (Rintala and Ranta. 1981) and the double lip which may appear as a separate entity or as part of the Ascher syndrome (Ascher. 1910). Since there is some confusion concerning the differential diagnosis and the inter-relationship of some of 0 LIr these two affections own observations are presented in this short paper.

reported in the literature (Gorlin ct (I/.. 1976; Suter and Vakilzadeh, 1977; Lebuibson L’I trl., 1978), but the true incidence is probably much higher than these figures suggest. Most of the reported cases have been sporadic. but autosomal inheritance (Panneton. 1936; dominant Franceschetti, 1955; Barnett et trl., 1973) and endocrine disturbances or allergic reactions (Stehr et (II.. 1962) have been suggested as possible etiological factors.

Epidemiology

Report of Cases

The foetal lip at the 70 mm stage between the second and third months consist of two parts; the inner pars villosa and the outer pars glabra. separated by a horizontal sulcus. Persistence of this s&us is thought to result in the congenital double lip deformity (Warbrick et cd., 1952). Usually the congenital double lip deformity in irs bilateral form only appears in the upper lip but cases have been reported of it involving the lower lip alone, or both lips together in the same patient (Stein. 1930: Hausamen el LI/., 1969). Occasionally. unilateral forms have been described (Delaire ef (II., 1969). In the Ascher syndrome the double lip is combined with blepharochalazis and (in about 50 (I<, of the cases) with non-toxic thyroid enlargement. The double lip is usually a congenital abnormality but may develop later in life. Most of the “acquired” forms belong to the Ascher syndrome and vice versa (Bienengraber and Rosenthal. 1963; Tapaszto t’f (II., 1963). Microscopically both types are indisting+uishable and consist of hypertrophic mucous g&t-& in the \illous part of the lip (Findlay, 1954; GuerreroSantos and Altamirano, 1969). In the acquired form the swelling may not only be more widespread and uniform but has been reported to recur following surgical excision. unlike the congenital variety (Eisenstodt, 1949). Over 100 cases of double lip and about 50 patients \vith the Ascher syndrome have been

Case 1. A man aged 2X. with no family hlstor!/ of any noted that fence puberty congenital malformations there has been a slowly increasing bum otherwise asymptomatic swelling of the upper lip. which had now become aesthetically disfiguring. Recently the lower lip had also become slightly thicker. For the last seven years he had been treated with tranqullllscrs for psychiatric reasons but as far as could be ascertained he was not allergic to these or any other drugs. On examination there was bilateral blepharochalazis (Fig. I). The upper lip was obviously enlargsd. negroid in appearance. with a shallow transverse sulcus on lhe mucosal aspect of the lip where mucosal swelling was more pronounced (Fig. 2). In the lower lip the same signs were noted to a lesser degree. The thyrotd gland WBS normal in size and consistency. The thyroid function tests showed no abnormality whatever. At operation, the thickness of the upper lip was found to be due to excessive submucous tissue, which was excised. The muscular layers were macroscopically Histological showed loose normal. examination connective tissue covered by normal labial epithelium. In the deeper parts hypertrophic mucous glandular tissue and dilated ducts were seen surrounded by diffuse fibrosis and lymphocytic infiltration. At the follow up eight months later there was no recurrence of the swelling of the upper lip. The untreated lower lip and the lids were unchanged.

Case 2. A 16-year-old otherwise hcalthq girl presented with a congenital upper double lip which had possibly increased slightly in size and growth. but h;~l caused

31

BRITISH

Fig. 1 Bilateral blepharochalasis (Aschcr syndrome). Case I.

and

acquired

double

Fig. 3

Congenital

upper

double

lip.

OF PLASTIC

SURGERY

Both lips are swollen and in the upper ridges are seen. Case I.

lip bilateral

lip.

only minor aesthetic embarrassment. No change in the lower lip had been observed. There was no family history of any congenital malformation. On examination the upper lip was obviously enlarged due to bilateral swelling mainly on the mucosal aspect (Fig. 3). A shallow horizontal sulcus could be seen only when the lips were tensed during smiling. The bipartite nature of the swelling in the middle of the upper lip was accentuated by a tight frenulum.

Case 2.

JOURNAL

Fig. 2 mucosal

On the right side of the mucosal aspect of the lower lip there was a shallow horizontal transverse sulcus (Fig. 4). Behind this the mucosa was hyperplastic. forming a ridge-like elevation. The left side of the lower lip was normal. At operation hypertrophic glandular tissue from the upper lip was removed inner aspect of the

Fig. 4

Fig. 5

right lower

On the mucosal aspect of the lip there is a transverse ridge similar to those seen in the lowet lip sinus syndrome (Rintala and Ranfa. 1981). Case 2.

upper lip. Case 3.

Congenital

uncomplicated

double

(‘ON<;1

NITAL

1XlI’BLE

LIP AND

ASC‘HER

SYNDROMI

Micrc~xqGall~ the specimen consisted of hypertrophic mucclus glands with dilated ducts, in places surrounded I>! scanty

I\mphocytic

infiltration.

Conclusions From personal observation of three patients. hitherto unreported, and a critical rekiev, aI the conclu5ion5 can bt: literature [he following drawn : niosl of the lower lip deformitic~ prc\ icjusl> interpreted as double lips rclatcd IO cleft5 are acrually lip Gnuses of the tr;inkverscfurro\h type. (ii)

Discussion Some

presented in the literature as (Mahon rt rrl.. 1940: Calnon. 1053: War!,any. 1971) were without any doubt lip sinu\cs of the lateral mucosal transverse-groove type (RIntula and Ranta. 1981). This is confirmed by the clinical photographs. the simultaneous prcsencc of ;I cleft. the familial occurrence and the IaLl\ (,I‘ a double upper lip. The same may well apply to xxiie misinlcrprclation e;lrlicIreports (Lucas-Championni~re. 1869: Lannelonpuc. 1X79). but cannot be proved iIs no illuslralions arc available. On the other hand. Barnott cl 111. ( I973 I described u patient with ii typical bilateral upperd0~1blc lip. I~~wcr lip furrows similar 10 C~LII. SI~LISCSof [he trxnsvcrse type. and ;I wide bifid u\ul;i Iinicrof~~rni of a cleft). In other case report5 both lips have pre5ented as a typical double lip. without any ob\ ions cleft (Dingman and Billman. I%I7; Findlay. 195-l: Franceschetti. lY55: Delairc vi (il.. IY6Y: Barnett PI (I/.. 1973; Papanayoton double

and

of the caes lower

Hat/iotis. long

lips

lc)73).

ago as 1924, Hilgenreiner proposed the hypothcG5 that lower lip sinuses too could bc rcmnant5 01‘ the horizontal sulci. With this in mind ir 15 surprising that only Calnan (19531 drc\\ attention to their similarity to the double lip. remarking thai both “seem to be associated in 5~lmc \v;IJ”. .4\

;I family history of the lip sinus syndrome tr)gelhrr with clefts suggcst5 ;I doiiiinanl mode 01 tran5misxion. autt)somul 13~ contrast the solitary double lip ~‘1x5 usualI\ have been bporadic. A familial ~xxurrcncc of [he double lip has been ~~~s~nnall~ in connection with (he /\5ClWl reported syndrome and suggests that the etiology 01 t hesc malformations rnU4! bc both heterogrnic.

lower lip, al1cn appearing (111) The double topclher with :I double upper 11p. may bc mol-phologically indistiliEuisllabIc from the Iowci. lip sinus of the transverse-sulcu5 type. Microscopically both consist of h) pcrplastic t~~uco:~s glands. In the ,Ascher syndrome: further hypertrophy with some inflammatory reaction seems 10 [ahe place. (iv)

There vxms to be a bctwecn the pathogenesi~ lhe d~>uble lip.

close relationship of lip ~inuxs and

Taking into consideration the traIlsverse muco4 furrows. the conical elcva~l~~ns and 01 her microforms, the median. p;lramcc!ian and bifurcated types of the lip-4nus byndrome and their close relationship to the double lip. the theory of the role of the transverse hulci does not offer ;I atislactnry explanation for their pathogencsi4.

References

34

BRITISH

Kie$rchirurgir, edited by Rosenthal. W., Hoffman-Axthelm, W. and BienengrHber, A. Leipzig. J. A. Barth. Calnan, J. S. (1953). Congenital double lip: Record of a case with a note on the embryology. British Journal of Plastic Surgery. 5, 197. Delaire, J., Landais, H., Billet, J. and Lajarte. A. Y. (1969). Les doubles l&res. ActuaIitPs Odonto-ston~utologiqtrrs, (Paris) 87, 365. Dingman, R. 0. and Billman, H. (1947). Double lip. Journal c$ Oral Surgery, (Chicago) 5, 146. Eisenstodt, L. W. (1949). Blepharochalasis with double upper lip. Americun Journul ofOpkrhalmology, (Chicago), 32, 118. Findlay, G. H. (1954). Idiopathic enlargements of the lips: Cheilitis granulomatosa, Ascher’s syndrome and double lip. British Journai of’Dermatofog~, 66, 129. Franceschetti, A. (1955). Manifestation de bl&pharochalasis chez le p&re, associC $ des doubles ltvres apparaisant tgalement chez sa tillette Lgte d’un mois. Journal de Gh&riyue Humaine, (Geneva) 4, 181. Go&n, R. J., Pindborg, J. J. and Cohen, M. M. (1976). Syudromes of the Head und Neck. 2nd edition. New York. McGraw-Hill. Guerrero-Santos, J. and Altamirano, J. T. (1967). The use of W-plasty for the correction of double lip deformity. Plosric ant1 Ruconstructioe Surgery. 39. 478. Hausamen, J. E., Solbach, H. G. and Pape, H. D. (1969). Deutsche Klinischer Beitrag zum Ascher-Syndrome. Zuhndrtzlichr Zeitschrifi. (Munich) 24, 983. Hilgenreiner, H. (1934). Three cases of congenital fist&s. mucous membrane pouches on the lower lip: nature and cause of malformation, with review of 47 cases on record. Deutsche

Zeitschrift

ficr Chirtrrgie,

Lebuisson, Quillard, Frunqais

de”Pks,

OF PLASTIC

SURGERY

Lucas-Championni&re, J. (1869). Sur un vice de conformation t&-rare de la l&vre inftirieure. Journal de Mbdecine et de Chirurgie

Prutique,

40, 442.

Mason, M. L. Anson, B. J. and Beaton, L. E. (1940). The surgical and anatomical aspects of a case of double lower lip. Surgqv, Gynuccolog~ cited Obstetrics, 70, 12. Panneton. P. (1936). Le blkpharo-chalazis. A propos de 51 ca< dans une m&me famille. Archives d’Ophtnlwkq+r et Rr~:ue G&Prnle

d’Ophtalmologie,

53, 729.

Papanayoton, syndrome.

P. H. and Hatziotis, J. C. (1973). Ascher’s Report of a case. Oral Surgery, Ortrl Mellicirle and Oral Pathology. 35, 467. Rintala, A. and Ranta, R. (1981). Lower lip sinuses: I. Epidemiology microforms and transverse mucosal grooves. British

Jourrzul

of Plastic

Surgery,

34, 26.

Stehr, K.. Werb, K. and LSblich, H. J. (1962). Pathogenese und Therapie des Ascher-Syndroms. Deutsche Medizinischr Wocherwchr# (Stuttgart) 87, 1148. Stein, R. (1930). Blepharochalasis des Unterlides. Klini.wIw Momtsbliitterf~ir Augenheilkurlde. (Stuttgart) 84, 846. Suter, L. and Vakilzadeh, F. (1977). Ascher-Syndrom. Houturzt, (Berlin) 28, 257. Tapasztb, J., Liszkay, L. and Vass, Z. (1963). Some data on the pathogenesis of blepharochaiasis. Actcl Ophthalmc~io,oicu (Kobenhavn) 41, 167. Warbrick, J. G., McIntyre. J. R. and Ferguson, A. G. (1951). Remarks on the aetiology of congenital bilateral fistulae of the lower lip. British Jaurnul of Plastic Surgery. 4, 254. Warkany, J. (1971 ). Congenitul Mo&mutions. Double Lip. Chicago. Year Book Medical Publishers. p. 616.

188, 273.

Lannelongue, 0. (1879). Comm&ication: median cleft of the lower lin and iaw. Bulktim et M&wires de la Sock%& drs Chirurgks

JOURNAL

The Author

5, 617.

D., Leroy, L. Aron, J. (1978). Le syndrome d’Ophtulmologie,

12, 750.

J. J., Jeaneau, de Laffer-Ascher.

E.

and

Jmrmul

Dr A. E. Rintala, MD, Finnish Red Cross Cleft Centre. Department of Plastic Surgery, Pohj. Hesperiank. 17. 00260 Helsinki 26, Finland.