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Recurrent oral carcinoma in Ferguson-Smith disease
Recurrent oral carcinoma in Ferguson-Smith disease
T. J. Malins, R. P. Ward-Booth Department of Oral and Maxillo-Facial Surgery, Sunderland District General Hospital, U.K.
T. J. Malins, R. P. Ward-Booth: Recurrent oral carcinoma in Ferguson-Smith disease. Int. J. Oral Maxillofac. Surg. 1990; 19." 165-166. Abstract. A p a t i e n t with multiple self-healing s q u a m o u s cell c a r c i n o m a s of the skin is presented. M u c o u s m e m b r a n e i n v o l v e m e n t in this c o n d i t i o n is very u n c o m m o n a n d the lesions m a y show aggressive behaviour.
M u l t i p l e familial self-healing epithelio m a t a o f the skin were first described b y F e r g u s o n - S m i t h in 19342. Transmission is by a u t o s o m a l d o m i n a n t inheritance. Two large Scottish families are well described in the literature 2 a n d genetic pedigree analysis has suggested t h a t the c o n d i t i o n m a y have arisen in these two families from a single mut a t i o n a r o u n d 1790. The incidence is u n k n o w n b u t the c o n d i t i o n is very rare. T h e m a j o r i t y o f reported cases are f r o m the west o f Scotland. Some cases rep o r t e d in N o r t h A m e r i c a a p p e a r to have been due to e m i g r a t i o n o f affected individuals. T h e m e a n age o f onset o f the t u m o u r s is 25.5 years:. N o t u m o u r h a s been observed to develop before puberty. T h e sites o f prediliction are the exposed areas, especially the nose, ears a n d circum-oral region. T h e n u m b e r o f t u m o u r s varies f r o m 1 to 902. A small raised red nodule is the first sign o f a new lesion. This m a y grow over 2 - 4 weeks to a d i a m e t e r of 2 - 3 cm a n d m a y b e c o m e crusted or ulcerated. T h e lesion
m a y then r e m a i n u n c h a n g e d for 1-2 m o n t h s , a n d t h e n gradually shrink, leaving b e h i n d a very characteristic a n d unsightly crenellated scar. Lesions m a y develop singly or in crops. I n one case it was strikingly confined to one h a l f o f the b o d y 2. Recurrence after excision or d e s t r u c t i o n is u n c o m m o n a n d n o case o f metastasis has been reported 1. M u c o s a l lesions seem to be u n u s u a l a n d the conc u r r e n t i n v o l v e m e n t of the t o n g u e b y a c a r c i n o m a h a s n o t previously been reported.
Case report A 76-year-old caucasian woman was referred regarding an ulcer on the left side of the tongue. The ulcer had been present for 3 months. In addition, the patient had developed an ulcerative lesion on the chin 4 weeks prior to referral. Her past medical history revealed that, 25 years ago, she had been treated by radium needle implant for a squamous cell carcinoma of her tongue at the same Site as the present ulcer. On further questioning it was apparent that she had been
Fig. 1. Ulcerative lesion ventral aspect of tongue, left side.
Key words: oral carcinoma; Ferguson-Smith
disease Accepted for publication 10 December 1989
diagnosed as suffering from Ferguson-Smith disease many years previously. The lesion on the chin was one of a succesion of facial lesions she had developed over many years, the characteristic scars being evident. Her father and daughter were also affected. ' Clinical examination revealed a 1.5 x 2 cm ulcer with raised, rolled margins on the'. left ventral aspect of the tongue (Fig. 1). There was no associated lymphadenopathy. T h e lesion on the chin (Fig. 2) had an appearance similar to kerato-acanthoma. Both arms;and trunk were marked by punctate scars (Fig. 3), the lower limbs were spared. Incisional biopsies of both lesions revealed invasive squamous cell carcinomas. Following panendoscopy to exclude other lesions of the a'erodigestive tract, the lesion on the left side of the tongue was excised with a 2 cm margin. Microscopy confirmed the margins of excision were clear of tumour as were several attached submental lymph nodes. The defect was repaired with a split-skin graft from the thigh, flap repair being avoided due to concern of transposing skin with the potential for further carcinoma formation to the oral cavity. The patient made satisfactory progress, and had acceptable function post-operatively.
Fig. 2. Chin lesion, demonstrating central plug of keratin which undergoes extrusion prior to spontaneous healing.
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Malins and Ward-Booth
Fig. 3. Characteristic pitted scar sites of previous lesions on the left forearm.
Three months later a mass was noted in the right submandibular region consistent with a lymph node. A subsequent right radical neck dissection confirmed deep cervical node replacement with extra-capsular spread by metastatic, moderately differentiated, squamous cell carcinoma. The patient has been referred for external-beam radiotherapy to the right side of her neck. Six months post-
operatively there is no evidence of recurrence at the site of the primary intra-oral lesion.
in preventing the eruption and evolution of epitheliomata in this condition 5.
Discussion
References
This familial disease is a distinct entity 3. It is considered by some to be a variant of kerato-acanthoma, an example of multiple kerato-acanthomas 3, but the clinician who has seen patients with both conditions would never reach such a conclusion; the two lesions differ in their appearance and histology 3. Mucosal lesions are unusual but there have been verbal reports of lesions occurring in the pyriform fossa and nasal mucous membranes 4. A few cases of lesions in the head and neck have caused severe problems due to local invasion and involvement of local lymph-nodes, but they have n o t been reported to metastasize 1,4. Clincians who have treated a n u m b e r of these patients have observed that the behaviour of the lesions may be modified by radiotherapy 4. One could speculate that radiotherapy to the original tongue lesion may have been responsible for its subsequent aggressive clinical behaviour. Prior to the advent of etretinate, the treatment of choice for most skin lesions was either liquid nitrogen cryo-therapy or surgical excision. Recently, it has been shown that etretinate is effective
I. EPSTEINNN, BISKINDGRI POLLACKRS. Multiple primary self-healing squamouscell "epitheliomas" of the skin. Arch Derm 1957: 75: 210-23. 2. FERGUSON-SMITH MA, WALLACE DC, JAMES ZH, RENWlCKJH. Multiple selfhealing squamous epithelioma. In: BERGSMAD, ed. The clinical delineation of birth defects. Baltimore: Williams & Wilkins, 1971! 11: 157-63. 3. McGREGOR IA, McGREGOR FM. In: Cancer of the face and mouth. London: Churchill Livingstone, 1986: 79. 4. PERSONAL COMMUNICATION" GOUDIE, D.
Division of Cellular & Genetic Pathology, Cambridge University. 1988. 5. WRIGHT AL, GAWKRODGER D J, BRAN-
FORD WA, McLAgEN K, HUNTERJAA. Self-healing epitheliomata of FergusonSmith: Cytogenetic and histological studies, and the therapeutic effect of etretinate: University of Edinburgh: Dept. of Dermatology and Pathology, 1988: submitted for publication. Address: Dr. Z J. Malins Department of Oral & Maxillo-Fac&l Surgery Sunderland District General Hospital Kayll Road, Sunderland, SR4 7TP England
T. J. Malins, R. P. Ward-Booth Department of Oral and Maxillo-Facial Surgery, Sunderland District General Hospital, U.K.
T. J. Malins, R. P. Ward-Booth: Recurrent oral carcinoma in Ferguson-Smith disease. Int. J. Oral Maxillofac. Surg. 1990; 19." 165-166. Abstract. A p a t i e n t with multiple self-healing s q u a m o u s cell c a r c i n o m a s of the skin is presented. M u c o u s m e m b r a n e i n v o l v e m e n t in this c o n d i t i o n is very u n c o m m o n a n d the lesions m a y show aggressive behaviour.
M u l t i p l e familial self-healing epithelio m a t a o f the skin were first described b y F e r g u s o n - S m i t h in 19342. Transmission is by a u t o s o m a l d o m i n a n t inheritance. Two large Scottish families are well described in the literature 2 a n d genetic pedigree analysis has suggested t h a t the c o n d i t i o n m a y have arisen in these two families from a single mut a t i o n a r o u n d 1790. The incidence is u n k n o w n b u t the c o n d i t i o n is very rare. T h e m a j o r i t y o f reported cases are f r o m the west o f Scotland. Some cases rep o r t e d in N o r t h A m e r i c a a p p e a r to have been due to e m i g r a t i o n o f affected individuals. T h e m e a n age o f onset o f the t u m o u r s is 25.5 years:. N o t u m o u r h a s been observed to develop before puberty. T h e sites o f prediliction are the exposed areas, especially the nose, ears a n d circum-oral region. T h e n u m b e r o f t u m o u r s varies f r o m 1 to 902. A small raised red nodule is the first sign o f a new lesion. This m a y grow over 2 - 4 weeks to a d i a m e t e r of 2 - 3 cm a n d m a y b e c o m e crusted or ulcerated. T h e lesion
m a y then r e m a i n u n c h a n g e d for 1-2 m o n t h s , a n d t h e n gradually shrink, leaving b e h i n d a very characteristic a n d unsightly crenellated scar. Lesions m a y develop singly or in crops. I n one case it was strikingly confined to one h a l f o f the b o d y 2. Recurrence after excision or d e s t r u c t i o n is u n c o m m o n a n d n o case o f metastasis has been reported 1. M u c o s a l lesions seem to be u n u s u a l a n d the conc u r r e n t i n v o l v e m e n t of the t o n g u e b y a c a r c i n o m a h a s n o t previously been reported.
Case report A 76-year-old caucasian woman was referred regarding an ulcer on the left side of the tongue. The ulcer had been present for 3 months. In addition, the patient had developed an ulcerative lesion on the chin 4 weeks prior to referral. Her past medical history revealed that, 25 years ago, she had been treated by radium needle implant for a squamous cell carcinoma of her tongue at the same Site as the present ulcer. On further questioning it was apparent that she had been
Fig. 1. Ulcerative lesion ventral aspect of tongue, left side.
Key words: oral carcinoma; Ferguson-Smith
disease Accepted for publication 10 December 1989
diagnosed as suffering from Ferguson-Smith disease many years previously. The lesion on the chin was one of a succesion of facial lesions she had developed over many years, the characteristic scars being evident. Her father and daughter were also affected. ' Clinical examination revealed a 1.5 x 2 cm ulcer with raised, rolled margins on the'. left ventral aspect of the tongue (Fig. 1). There was no associated lymphadenopathy. T h e lesion on the chin (Fig. 2) had an appearance similar to kerato-acanthoma. Both arms;and trunk were marked by punctate scars (Fig. 3), the lower limbs were spared. Incisional biopsies of both lesions revealed invasive squamous cell carcinomas. Following panendoscopy to exclude other lesions of the a'erodigestive tract, the lesion on the left side of the tongue was excised with a 2 cm margin. Microscopy confirmed the margins of excision were clear of tumour as were several attached submental lymph nodes. The defect was repaired with a split-skin graft from the thigh, flap repair being avoided due to concern of transposing skin with the potential for further carcinoma formation to the oral cavity. The patient made satisfactory progress, and had acceptable function post-operatively.
Fig. 2. Chin lesion, demonstrating central plug of keratin which undergoes extrusion prior to spontaneous healing.
166
Malins and Ward-Booth
Fig. 3. Characteristic pitted scar sites of previous lesions on the left forearm.
Three months later a mass was noted in the right submandibular region consistent with a lymph node. A subsequent right radical neck dissection confirmed deep cervical node replacement with extra-capsular spread by metastatic, moderately differentiated, squamous cell carcinoma. The patient has been referred for external-beam radiotherapy to the right side of her neck. Six months post-
operatively there is no evidence of recurrence at the site of the primary intra-oral lesion.
in preventing the eruption and evolution of epitheliomata in this condition 5.
Discussion
References
This familial disease is a distinct entity 3. It is considered by some to be a variant of kerato-acanthoma, an example of multiple kerato-acanthomas 3, but the clinician who has seen patients with both conditions would never reach such a conclusion; the two lesions differ in their appearance and histology 3. Mucosal lesions are unusual but there have been verbal reports of lesions occurring in the pyriform fossa and nasal mucous membranes 4. A few cases of lesions in the head and neck have caused severe problems due to local invasion and involvement of local lymph-nodes, but they have n o t been reported to metastasize 1,4. Clincians who have treated a n u m b e r of these patients have observed that the behaviour of the lesions may be modified by radiotherapy 4. One could speculate that radiotherapy to the original tongue lesion may have been responsible for its subsequent aggressive clinical behaviour. Prior to the advent of etretinate, the treatment of choice for most skin lesions was either liquid nitrogen cryo-therapy or surgical excision. Recently, it has been shown that etretinate is effective
I. EPSTEINNN, BISKINDGRI POLLACKRS. Multiple primary self-healing squamouscell "epitheliomas" of the skin. Arch Derm 1957: 75: 210-23. 2. FERGUSON-SMITH MA, WALLACE DC, JAMES ZH, RENWlCKJH. Multiple selfhealing squamous epithelioma. In: BERGSMAD, ed. The clinical delineation of birth defects. Baltimore: Williams & Wilkins, 1971! 11: 157-63. 3. McGREGOR IA, McGREGOR FM. In: Cancer of the face and mouth. London: Churchill Livingstone, 1986: 79. 4. PERSONAL COMMUNICATION" GOUDIE, D.
Division of Cellular & Genetic Pathology, Cambridge University. 1988. 5. WRIGHT AL, GAWKRODGER D J, BRAN-
FORD WA, McLAgEN K, HUNTERJAA. Self-healing epitheliomata of FergusonSmith: Cytogenetic and histological studies, and the therapeutic effect of etretinate: University of Edinburgh: Dept. of Dermatology and Pathology, 1988: submitted for publication. Address: Dr. Z J. Malins Department of Oral & Maxillo-Fac&l Surgery Sunderland District General Hospital Kayll Road, Sunderland, SR4 7TP England