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Tuberous sclerosis with gingival lesions
Tuberous sclerosis with gingival lesions Report
of a case
P. Papanayotou,, D.D.X., Thessaloniki, Greece SCHOOL
OF DENTISTRY,
M.D.,’
UNIVERSITY
ad
E. Vezirtzi,
D.D.S.,**
OF THESSALONIKI
A case of Bourneville-Pringle syndrome with oral manifestations in a 40-year-old The oral manifestations of this rare syndrome consist of multiple tumorlike papillomas which are located mainly on the anterior gingivae of the upper jaw. The histologic examination revealed small papillomas.
mxnan is described.
T
uberous sclerosis or the Bourneville-Pringle syndrome is a congenital disorder in which tumorlike masses are found in many organs of the body. The disease in its full development is characterized by a triad of symptoms consisting of epilepsy, mental retardation, and adenoma sebaceum.“, S,i, !’ Any phase of the triad may be manifest alone or in combination with another in the absence of the third.4, lo Although the term sclerosis was first mentioned in 1862 by T’on Recklinghausen,” in 1880 Bourneville’ described the classic form of the disease in a 14 month-old infant. After this, in a series of publications between 1880 and 1900, ten cases of mental deficiency associated with the presence of nodules in the brain were described. Bourneville called this condition “tuberous sclerosis.“” In 18% Balzer and Menetrier’ described lesions of the face consisting of discrete red papules which they called “adcnoma scbaceum.” Five years later Pringle” reported a case in which there were facial lesions of firm, whitish or grayish, solid nodules distributed over the nose and nasolabial folds. These lesions are similar in appearance to those of “sebaceous adenoma” described by Balzer and Nlcnetrier.l However, the relation between the skin lesions and those of the cerebral disorder (tuberous sclerosis) was clearly recognized by Vogt’” who, in 1908, introduced the triad of epilepsy, mental retardation, and sebaceous *Associate **Instructor
578
Professor of Oral Medicine. of Oral Medicine.
Yolume Number
Tuberous sclerosis with gingival
39 4
Figs. 1 and 8. Tuberous
Pig. 3. Peduneulated
lesions
579
sclerosis. Sebaceous adenomas on face.
oral lesions extending
mainly
on anterior
maxillary
gingiva.
adenoma. The syndrome is relatively rare and is found in about 0.1 to 0.6 per cent of all persons with epilepsy and mental deficiency. Tn the general population, it is seen in almost 1 in 300,000 to 1 in 500,000 persons.8 The oral manifestations of the syndrome consist of multiple nodules, fibromas, and papillomas which vary in size from that of a pinpoint to that of a small pea. They are usually the color of normal oral mucosa, but occasionally they are grayish, bluish, red, or yellow. They are located most frequently on the anterior gingiva, especially of the upper jaw, but they may also be found on the lips, the buccal mucosa, the dorsum of the tongue, the palate, etc.?’ 8, I2 Conditions in which there are malformed teeth as well as marked diastemas between the upper lateral incisors and cuspids could also be encountered.‘2 According to Gorlin and his co-authors,7 there is no statistical relationship so far as the frequenc.y of oral manifestations is concerned. Yet Schuermann and associates12 write that they found 11 per cent of 186 patients to have such oral manifestations. These manifestations seem to appear first either at from 4 to 10 years of age or at puberty, while there is no difference between the two sexes with respect to their occurrence.
Oral April,
Kurg. 1975
Fig. 4. Lesions on skin of hands.
Fig. 5. Lesions on skin of legs. CASE
REPORT
9 40.year-old woman came to the Clinic for an examination of lesions on the gingivae Family
medical
normal parents and brothers, and she claimed that neurologic disturbances, epilepsy, or mental deficiency.
no
history
The patient years previously, Oral
of Thessaloniki
history
The patient had physiologically one from her family ever exhibited Past
of Stomstology at the University of the upper and lower jaws.
did not mention any disease. She first noticed the gingival lesions almost whereas she remembered having had the skin lesions since childhood.
3
examination
Multiple nodules were observed toward the anterior size of a pinpoint to that of a pea. They were whitish form a unique papillomatous surface; some others papillomas. Similar but fewer nodules were observed on arch and anterior gingivae of the mandible.
maxillary gingivae, varying from the gray in color. Some mere uniting to were isolated and resembled small the lingual segment of the maxillary
Extraoral
examination
Mainly on the middle third of the face, over the nose and the nasolabial folds, as well as on the skin of the forehead, small nodules ranging from the size of a pinpoint to that of a small pea were observed. They were slightly elevated and white-gray in color, giving the skin an uneven and rough appearance. Similar but isolated lesions were also observed on the skin of the dorsum of the hands and legs. Neurologic
and dermatologic
examinations
The patient, who showed evidence of mental deficiency, was not very cooperative with the examiners. Examination of the cutaneous lesions by a dermatologist disclosed the existence on the fact of “sebaceous adenoma.” Roentgenographic
X-my Histologic
findings
examination
of the skull and hands was normal.
findings
Examination of the nodules taken from the anterior maxillary existence of pupillomatous hypcrplasia of squamous epithelium.
gingivse
revealed
the
DISCUSSION
The literature contains very few references to the oral manifestations of tubcrous sclerosis or the Bourneville-Pringle syndrome. In 1941 Butterworth and Wilson8 described a case of tuberous sclerosis in which they found few fibrous papil1a.c on the gingiva in the incisor and canine regions, a small, firm papilloma on the margin of the tongue, and a large fibrous plaque on the dorsum of the tongue. Good and Garb,” in 1943, presented a cast of fibromas on the upper lip. In 1960 Gorlin and associates’ designated as oral manifestations fibromas which occur most commonly on the gingiva and occasionally on the tongue and palate. On the other hand, Davis and colleagues,5 in 1964, presented as oral manifestations the existence of a pedunculated hemangioma on the tongue of a U-year-old male patient and a large pcdunculated hpperplastic gingival growth in a 41 -pear-old man. Finally, Macklcr and associates,10 in 1972, described another cast of tubcrous sclerosis in a X-year-old female patient with fibrous gingivnl hypcrplasia. The rcportcd cast of tuberous sclerosis is a typical one, for it combined mental tlcficicncy with the sebaceous adenoma, whercns numerous intraoral IIO~~U~CS wwc ohserved, located mainly on the anterior gingiva of the upper jaw. SUMMARY
A typical case of tubcrous sclerosis has been dcseribed. The intraoral lesions nodules of varying sixes, located mainly *jaw. Histologically, it was proved to hyperplasia.
or the Bourneville-Cringle syndrome were in the form of multiple whitish on the anterior gingiva of the upper be a case of gingival papillomatous
REFERENCES
I. Rnlzer, F., and Menetrier, P.: fitude SW un cas d’adenomes scbaees de la face et du cuir c~hevclu, Arch. Physiol. 6: 564-570, 1885. 2. Ilourncville, I).: Sclereuse tubBreusc: drs cireonvolutions crr+brales, Idiotic: et Bpilepsie h6miplCgique, Arch. Neural. (Paris) 1: 81-91, 1880.
582
Papanayotou
and Vezirtzi
Oral April,
Surg. 1975
3. Butterworth, T., and Wilson, M. : Dcrmatologic Aspects of Tubcrow Scl~~tosis;, ~r(*lr. Dcrmatol. Syph. 43: l-41, 1941. 4. Chao, I). : Congenital Neurocutanaous Syndromw in ~‘hildhood. Il. Tuberow S(,ll)rosis, .T. Pediatr. 55: 447-459, 1959. 5. Davis, H., Baer, P., Archard, II., and Palmer, J.: Tul)erous Sclerosis \Vith Oral Manifrst:rtions; Report of Two Cases, ORAL STTRO.17: 395.400, 1964. 6. Good, (:., and Garb, T.: Symmetric Nevi of Faw, Tubrrous Salcrosis *~pil(~psy :mtl Fibromatous Growth on Scalp With Abnormal ~~rr~c~T~l~alogr:l~r~sof M~wbc’rs of th(x Familv. Arch. Dermxtol. Svuh. 47: 197-215. 1943. 7. Gorlil<‘R., Chaudhry, A., “a\ld Kelln, E.: ‘Oral Manifwtations of thca Fit~;CCt~r:~l(l-(::~r~l~~~~r, Pringle-Hourneville, Robin Adrenogenital and ITurl(‘r-I’fauntllt,r Syndromw, OIi.\I. Sl’li(:. 13: 1236-l 244. 1960. 8. Gorlin, R., anil Pindborg, J. : Syndromes of the ITcad and Nwk, New York, 1964, McGr:~uHill Book Company, TIP. 528-535. 9. Jordan. IV.: Familial Tulwous Sclerosis. Hr. Med. J. 2: 132-135. 1956. EL: ‘I’uhwous Sclrrosls \Vith Gingiwl Ixsiow, 10. Macklcr, St., Shoulars, II., and Burkw, ORAL Sl!R(;. 34: 619-624, 1972. 11. Pringlc, R. S.: A Case of Congenital Allenoma Seh:~wum, l{r. J. Dcwnaiol. 2: T-14, 1X90. drr Mundscllleinlllaut un(l 12. Schuermann, IT., Greither, A., and ITornc&~in, 0. : Krankhciten der Linow. Iierlin. 1966. TJrban & Schwarzrnbrw. III). 47-48. 13. Vogt, IT. : Zur patilologib und pathologischcn de;‘v~*~‘scl~eitlt~~l~~~~idiotic,fornlc,rl. I I. Tubcriisr Sklerose, Monatsschr. Psvchol. Neurol. 24: 106-150. 190X. 14. Von Re~klinghausrn, F. :“Cited hy Macklcr ct n1.l” II
/
Beprint vequcsts to: Prof. P. Papanayotou Department of Stomatology Dental School University of Thessaloniki Thrssaloniki, Greece
of a case
P. Papanayotou,, D.D.X., Thessaloniki, Greece SCHOOL
OF DENTISTRY,
M.D.,’
UNIVERSITY
ad
E. Vezirtzi,
D.D.S.,**
OF THESSALONIKI
A case of Bourneville-Pringle syndrome with oral manifestations in a 40-year-old The oral manifestations of this rare syndrome consist of multiple tumorlike papillomas which are located mainly on the anterior gingivae of the upper jaw. The histologic examination revealed small papillomas.
mxnan is described.
T
uberous sclerosis or the Bourneville-Pringle syndrome is a congenital disorder in which tumorlike masses are found in many organs of the body. The disease in its full development is characterized by a triad of symptoms consisting of epilepsy, mental retardation, and adenoma sebaceum.“, S,i, !’ Any phase of the triad may be manifest alone or in combination with another in the absence of the third.4, lo Although the term sclerosis was first mentioned in 1862 by T’on Recklinghausen,” in 1880 Bourneville’ described the classic form of the disease in a 14 month-old infant. After this, in a series of publications between 1880 and 1900, ten cases of mental deficiency associated with the presence of nodules in the brain were described. Bourneville called this condition “tuberous sclerosis.“” In 18% Balzer and Menetrier’ described lesions of the face consisting of discrete red papules which they called “adcnoma scbaceum.” Five years later Pringle” reported a case in which there were facial lesions of firm, whitish or grayish, solid nodules distributed over the nose and nasolabial folds. These lesions are similar in appearance to those of “sebaceous adenoma” described by Balzer and Nlcnetrier.l However, the relation between the skin lesions and those of the cerebral disorder (tuberous sclerosis) was clearly recognized by Vogt’” who, in 1908, introduced the triad of epilepsy, mental retardation, and sebaceous *Associate **Instructor
578
Professor of Oral Medicine. of Oral Medicine.
Yolume Number
Tuberous sclerosis with gingival
39 4
Figs. 1 and 8. Tuberous
Pig. 3. Peduneulated
lesions
579
sclerosis. Sebaceous adenomas on face.
oral lesions extending
mainly
on anterior
maxillary
gingiva.
adenoma. The syndrome is relatively rare and is found in about 0.1 to 0.6 per cent of all persons with epilepsy and mental deficiency. Tn the general population, it is seen in almost 1 in 300,000 to 1 in 500,000 persons.8 The oral manifestations of the syndrome consist of multiple nodules, fibromas, and papillomas which vary in size from that of a pinpoint to that of a small pea. They are usually the color of normal oral mucosa, but occasionally they are grayish, bluish, red, or yellow. They are located most frequently on the anterior gingiva, especially of the upper jaw, but they may also be found on the lips, the buccal mucosa, the dorsum of the tongue, the palate, etc.?’ 8, I2 Conditions in which there are malformed teeth as well as marked diastemas between the upper lateral incisors and cuspids could also be encountered.‘2 According to Gorlin and his co-authors,7 there is no statistical relationship so far as the frequenc.y of oral manifestations is concerned. Yet Schuermann and associates12 write that they found 11 per cent of 186 patients to have such oral manifestations. These manifestations seem to appear first either at from 4 to 10 years of age or at puberty, while there is no difference between the two sexes with respect to their occurrence.
Oral April,
Kurg. 1975
Fig. 4. Lesions on skin of hands.
Fig. 5. Lesions on skin of legs. CASE
REPORT
9 40.year-old woman came to the Clinic for an examination of lesions on the gingivae Family
medical
normal parents and brothers, and she claimed that neurologic disturbances, epilepsy, or mental deficiency.
no
history
The patient years previously, Oral
of Thessaloniki
history
The patient had physiologically one from her family ever exhibited Past
of Stomstology at the University of the upper and lower jaws.
did not mention any disease. She first noticed the gingival lesions almost whereas she remembered having had the skin lesions since childhood.
3
examination
Multiple nodules were observed toward the anterior size of a pinpoint to that of a pea. They were whitish form a unique papillomatous surface; some others papillomas. Similar but fewer nodules were observed on arch and anterior gingivae of the mandible.
maxillary gingivae, varying from the gray in color. Some mere uniting to were isolated and resembled small the lingual segment of the maxillary
Extraoral
examination
Mainly on the middle third of the face, over the nose and the nasolabial folds, as well as on the skin of the forehead, small nodules ranging from the size of a pinpoint to that of a small pea were observed. They were slightly elevated and white-gray in color, giving the skin an uneven and rough appearance. Similar but isolated lesions were also observed on the skin of the dorsum of the hands and legs. Neurologic
and dermatologic
examinations
The patient, who showed evidence of mental deficiency, was not very cooperative with the examiners. Examination of the cutaneous lesions by a dermatologist disclosed the existence on the fact of “sebaceous adenoma.” Roentgenographic
X-my Histologic
findings
examination
of the skull and hands was normal.
findings
Examination of the nodules taken from the anterior maxillary existence of pupillomatous hypcrplasia of squamous epithelium.
gingivse
revealed
the
DISCUSSION
The literature contains very few references to the oral manifestations of tubcrous sclerosis or the Bourneville-Pringle syndrome. In 1941 Butterworth and Wilson8 described a case of tuberous sclerosis in which they found few fibrous papil1a.c on the gingiva in the incisor and canine regions, a small, firm papilloma on the margin of the tongue, and a large fibrous plaque on the dorsum of the tongue. Good and Garb,” in 1943, presented a cast of fibromas on the upper lip. In 1960 Gorlin and associates’ designated as oral manifestations fibromas which occur most commonly on the gingiva and occasionally on the tongue and palate. On the other hand, Davis and colleagues,5 in 1964, presented as oral manifestations the existence of a pedunculated hemangioma on the tongue of a U-year-old male patient and a large pcdunculated hpperplastic gingival growth in a 41 -pear-old man. Finally, Macklcr and associates,10 in 1972, described another cast of tubcrous sclerosis in a X-year-old female patient with fibrous gingivnl hypcrplasia. The rcportcd cast of tuberous sclerosis is a typical one, for it combined mental tlcficicncy with the sebaceous adenoma, whercns numerous intraoral IIO~~U~CS wwc ohserved, located mainly on the anterior gingiva of the upper jaw. SUMMARY
A typical case of tubcrous sclerosis has been dcseribed. The intraoral lesions nodules of varying sixes, located mainly *jaw. Histologically, it was proved to hyperplasia.
or the Bourneville-Cringle syndrome were in the form of multiple whitish on the anterior gingiva of the upper be a case of gingival papillomatous
REFERENCES
I. Rnlzer, F., and Menetrier, P.: fitude SW un cas d’adenomes scbaees de la face et du cuir c~hevclu, Arch. Physiol. 6: 564-570, 1885. 2. Ilourncville, I).: Sclereuse tubBreusc: drs cireonvolutions crr+brales, Idiotic: et Bpilepsie h6miplCgique, Arch. Neural. (Paris) 1: 81-91, 1880.
582
Papanayotou
and Vezirtzi
Oral April,
Surg. 1975
3. Butterworth, T., and Wilson, M. : Dcrmatologic Aspects of Tubcrow Scl~~tosis;, ~r(*lr. Dcrmatol. Syph. 43: l-41, 1941. 4. Chao, I). : Congenital Neurocutanaous Syndromw in ~‘hildhood. Il. Tuberow S(,ll)rosis, .T. Pediatr. 55: 447-459, 1959. 5. Davis, H., Baer, P., Archard, II., and Palmer, J.: Tul)erous Sclerosis \Vith Oral Manifrst:rtions; Report of Two Cases, ORAL STTRO.17: 395.400, 1964. 6. Good, (:., and Garb, T.: Symmetric Nevi of Faw, Tubrrous Salcrosis *~pil(~psy :mtl Fibromatous Growth on Scalp With Abnormal ~~rr~c~T~l~alogr:l~r~sof M~wbc’rs of th(x Familv. Arch. Dermxtol. Svuh. 47: 197-215. 1943. 7. Gorlil<‘R., Chaudhry, A., “a\ld Kelln, E.: ‘Oral Manifwtations of thca Fit~;CCt~r:~l(l-(::~r~l~~~~r, Pringle-Hourneville, Robin Adrenogenital and ITurl(‘r-I’fauntllt,r Syndromw, OIi.\I. Sl’li(:. 13: 1236-l 244. 1960. 8. Gorlin, R., anil Pindborg, J. : Syndromes of the ITcad and Nwk, New York, 1964, McGr:~uHill Book Company, TIP. 528-535. 9. Jordan. IV.: Familial Tulwous Sclerosis. Hr. Med. J. 2: 132-135. 1956. EL: ‘I’uhwous Sclrrosls \Vith Gingiwl Ixsiow, 10. Macklcr, St., Shoulars, II., and Burkw, ORAL Sl!R(;. 34: 619-624, 1972. 11. Pringlc, R. S.: A Case of Congenital Allenoma Seh:~wum, l{r. J. Dcwnaiol. 2: T-14, 1X90. drr Mundscllleinlllaut un(l 12. Schuermann, IT., Greither, A., and ITornc&~in, 0. : Krankhciten der Linow. Iierlin. 1966. TJrban & Schwarzrnbrw. III). 47-48. 13. Vogt, IT. : Zur patilologib und pathologischcn de;‘v~*~‘scl~eitlt~~l~~~~idiotic,fornlc,rl. I I. Tubcriisr Sklerose, Monatsschr. Psvchol. Neurol. 24: 106-150. 190X. 14. Von Re~klinghausrn, F. :“Cited hy Macklcr ct n1.l” II
/
Beprint vequcsts to: Prof. P. Papanayotou Department of Stomatology Dental School University of Thessaloniki Thrssaloniki, Greece