Peutz-Jeghers Syndrome and Its Complications First Case Report From Malaysia With Review of Literature
Suresh K. Joishy, MD,* Kuala Lumpur, Malaysia Mala P. Leela, MB, FRACS,’ Seremban, Malaysia Manickavasagar Balasegaram, MB, FRCS,* Kuala Lumpur, Malaysia
Peutz-Jeghers syndrome, also known as intestinal polyposis II, is a familial condition characterized by the triad of (1) mucocutaneous pigmentation, (2) benign polyps occurring in any part of the intestinal tract but mainly in the jejunum, and (3) autosomal dominant inheritance. Although this condition is rare among the familial polyposis syndromes, it is clinically important because of the complications induced by the polyps, leading to abdominal pain, gastrointestinal bleeding, and intussusception. We report a case of Peutz-Jeghers syndrome complicated by successive intussusceptions resulting in extensive small bowel resection. The purpose of this paper is to compare our experience with that of other authors by reviewing the literature and highlighting important points in the diagnosis and management of complications in Peutz-Jeghers syndrome. So far as we know, this is the first report of this entity from Malaysia. Case Report A 14 year old Chinese girl was admitted to the hospital in the early part of January 1978 with colicky abdominal pain and vomiting of 24 hours’ duration. She had a history of recurrent abdominal pains that were not associated with any vomiting, abdominal distension, or melena. Physical examination showed signs of acute intestinal obstruction. Dark pigmented spots on the lips and buccal mucosa were observed (Figure l), and a diagnosis of Peutz-Jeghers syndrome was considered. There was no From the Universityof California ICMR Institutefor Medical Research,+ Kuala Lumpur; the Department of Surgery, General Hospital,t Seremban; and the Departments of Surgery, National University of Malaysiat and General HOSpitdT Kuala Lumpur, Malaysia. This work was supported in part by research grant Al 10051 (UC ICMR) to the Department of International Health, School of Medicine, Universityof California, San Francisco, from the National Instituteof Allergy and Infectious Diseases, National Institutesof Health, U.S. Public Health Service, Bethesda, Maryland. Requests for reprints should be addressed to Professor M. Salasegaram, Department of Surgery, General Hospital, Kuala Lumpur. Malaysia.
716
family history of similar complaints and no pigmented spots were observed in other family members. With a diagnosis of acute intestinal obstruction, an emergency laparotomy was performed. Three feet of gangrenous small bowel about 12 inches from the ileocecal junction was resected. A single polyp was seen leading to invagination (Figure 2). No other polyps were palpable. The patient recovered well from surgery and was discharged. The patient was readmitted in mid-February 1978, with severe abdominal pain, diarrhea, and vomiting. Physical examination revealed a tender central abdominal mass and absent bowel sounds. Exploratory surgery was performed through the previous operative scar. A jujunoileal intussusception travelling from about 1 foot from the duodenojejunal junction to about 3 feet from the ileocecal junction was found (Figure 3). Multiple polyps were palpable within the gangrenous segment (Figure 4). Resection of the entire involved segment, leaving behind only 4 feet of small bowel (1 foot of jejunum and 3 feet of ileum) was carried out. The patient recovered very well postoperatively and was discharged home. Complete gastrointestinal radiography was carried out at the end of May 1978. Multiple scattered polyps were seen in the residual portion of the small bowel (Figure 5). No polyps were seen in the stomach, duodenum, colon, or rectum. The patient is being watched closely with regular follow-up visits. In view of the extensive small bowel resection, she received parenteral hyperalimentation once in 3 months. So far she has shown no signs of the short bowel syndrome. Comments
Peutz-Jeghers syndrome, although rare, has been the subject of several case reports and extensive reviews [l-3]. Although this syndrome has been known since 1896, when it was reported by Hutchinson [4], it was Peutz
[5] who described
the association
of skin
The American Journal of Surgery
Peutz-Jeghers Syndrome
pigmentation with intestinal polyposis and the relation of the polyps to the clinical complication of intussusception. Jeghers et al [S] completed the description of this syndrome by reporting its inheritance by autosomal dominant gene. Thus, PeutzJeghers syndrome is represented by the classic triad of skin and mucosal pigmentation, intestinal polyposis, and inheritance by autosomal dominant gene. The patient reported on herein fulfills the major features of Peutz-Jeghers syndrome: mucocutaneous melanin spots involving typically the lips and buccal mucosa, and gastrointestinal polyposis mainly involving the jejunun and ileum. Our family studies were limited to the patient’s parents and siblings, who showed no polyposis, possibly because of variation in the degree of expression of this gene. Pigmentation: This is usually seen as numerous discrete dark brown spots measuring 2 to 4 mm in diameter. Lips and buccal mucosa are the typical locations but the gums, palate, fauces, nasal mucosa, conjunctiva, and rectum are other sites described. Pigmentation has never been observed on the tongue. Spots on the lips usually do not disappear with age, unlike cutaneous pigmentation. Cutaneous pigmentations are commonly grouped around the mouth, eyelids, and nostrils. Peculiarly, these spots lack hair. Rarely they may be seen on the fingers, palms, and toes. They may fade or disappear completely after puberty. Mucocutaneous pigmentations of Peutz-Jeghers syndrome are asymptomatic and have no malignant potential. Besides their cosmetic implication, they serve as a sign of great diagnostic value in the event the surgeon is faced with evanescent abdominal lumps, acute intestinal obstruction, or unexplained gastrointestinal bleeding [7].
Figure 1. Fifteen year old Chinese girl with Peutz-Jeghers syndrome. Note the prominent pigmented spots on the lips.
Polyposis: The offending feature of Peutz-Jeghers syndrome is the polyposis, and hence complete understanding of its characteristics is essential for proper surgical management. Polyps are predominantly found in the small bowel, mainly the jejunum, sometimes the ileum and duodenum, and rarely the appendix. Outside the small bowel, the polyps are found with equal frequency in the colon and rectum. Gastric polyps are rare. Extraalimentary polyps have been reported in the nasopharynx [S] and the urinary bladder. Intestinal polyps are frequently described during puberty or adolescence and rarely in infancy.
Figure 2, left. Surgical specimen of the first intussusception. Note the single polyp leading to invagination. Figure 3, right. Surgical specimen of the second intussusception; note its extensive nature.
Volume 138, November 1979
717
Joishy et al
Figure 4, left. Multiple po/yps seen in the gangrenous segment of resected bowel. Second intussusception. Figure 5, right. Barium mea/ follow-through. Note the multiple scattered polyps In the residual podion of the small bowel remaining abler surgery for the second intussusception.
Polyps of the Peutz-Jeghers syndrome may be pedunculated or sessile and may vary in number and diameter in the same segment of the bowel [8]. The surface is similar to the mucosa from which they appear. Histologically the polyps are hamartomas, not adenomas, and hence they have no malignant potential. Although there have been genuine reports of malignancy in Peutz-Jeghers polyposis [%15], most observers conclude it is not premalignant. In a study of 14 patients, Reid [13,14] found a 2 to 3 per cent risk of malignancy with Peutz-Jeghers polyposis. It should be emphasized that there could be coincident precancerous adenomatous polyps in the duodeum, stomach, or colon masked by hamartomatous polyps of Peutz-Jeghers syndrome. An important feature of the polyps in the small bowel is their progression by segmental spurts with periods of quiescence lasting many months, as in our case [3]. It is impossible to predict at surgery the possible sites of development of fresh polyps. Complications due to polyposis: Acute intestinal obstruction from small bowel intussusception is the major complication requiring surgery. Even colonic intussusception has been described [2]. Bleeding from polyps is extremely common; it is usually mild,
718
persistent, or recurrent and results in iron deficiency anemia. Less frequently, massive gastrointestinal bleeding may occur, particularly from gastric PolYPs* Unusual manifestations: There are case reports of ovarian tumors associated with Peutz-Jeghers syndrome [16,17]. Differentiation from other polyposis syndromes: McKusick [18] has classified polyposis syndromes as polyposis I, II, III, and IV, Peutz-Jeghers is classified as familial polyposis II. The differential diagnosis of these syndromes is described in Table I. Genetics: Peutz-Jeghers syndrome is inherited as a Mandelian dominant characteristic. About 40 to 45 per cent of the siblings of affected individuals are known to develop this disease, suggesting a high degree of penetrance [2]. The variability of clinical characteristics observed among families and among members of same family suggests variation in the degree of expression of this gene. There may be symptom-free members in a family with few polyps or faint pigmentation who may be scored unaffected. The gene responsible for this condition is potentially effective in the entire gastrointestinal tract. No causal connection between pigmented spots and polyposis has been elucidated. However, mela-
The American Journal of Surgery
Peutz-Jeghers Syndrome
TABLE I
Differential Diagnosis of Intestinal Polyposis Familial Polyposis of the Colon [ 781
Classification Genetic type Predominant site Extraintestinal manifestations Malignant potential
Intestinal polyposis-I Autosomal dominant Colon None
Highly premalignant
Peutz-Jeghers Syndrome [B]
Gardner’s Syndrome [ 791
CronkhiteXanada Syndrome [ 2 I]
Turcot’s Syndrome [ 221
Intestinal polyposis-II Autosomal dominant Small bowel, mainly jejunum Mucocutaneous pigmentation
intestinal polyposis-Ill Autosomal dominant Colon
Intestinal polyposis-IV Autosomal dominant Colon
(May be a variant of polyposis-I) Sporadic, nongenetic Generalized
(May be a variant of polyposis-Ill) Insufficient reports
Osseous and soft tissue tumors
None
Malignant tumors of the central nervous system
Rarely premalignant or none
Frequently premalignant
Insufficient
Alopecia, atrophy of fingernails, mucocutaneous pigmentation Insufficient
notic pigmentation is quite characteristic in association with several other heredofamilial conditions such as neurofibromatosis, the McCune-Albright syndrome, and multiple endocrine adenomatosis. The only explanation one can offer is the fact that melanocytes and the argentaffin cells of the intestine have a common embryonic origin-the neural ectoderm. Surgical management: Based on the combined experience of many authors, the rational approach to the management of Peutz-Jeghers complications should be symptomatic. Prophylactic treatment has no role in the management of small bowel polyps when detected, for several reasons. First, despite the frequent intestinal invagination of these polyps, the majority reduce spontaneously [7]. Second, they have very little malignant potential. Third, it is impossible to predict the location of other polyps or the recurrence of intussusception, as the polyps are known to progress in segmental spurts [3]. Lastly, overzealous resection may lead to malabsorption and mortality. The exception to the above rule may be gastric and duodenal polyps, which could be a coincident premalignant adenoma. Colonic polyps in adults with the Peutz-Jeghers syndrome must also be resected. A conservative approach is usually applied in colonic polyps of children. Intestinal invagination of polyps leading to intussusception and obstruction is a major complication of Peutz-Jeghers syndrome. From our own experience and our review of the literature, we conclude that the incidence of frequent intussusception is greater in patients with the Peutz-Jeghers syndrome than in those with other types of intestinal polyposis. Invagination of the polyps and intussusception could occur at any level of the gastrointestinal tract.
Volume 139. November 1979
Scattered Discrete Polyps [ ZO]
reports
reports
Colon
Insufficient reports
The operative procedure should aim at salvaging small boTe1 length in order to avoid subsequent short gut syndrome. Resection should be limited to the gangrenous segment only, and if the involved segment is viable, the offending polyps should be excised by enterostomy in the healthy segment of the bowel. Although a majority of polyps may be pedunculated, some sessile polyps will require bowel resection. Numerous tiny polyps adjacent to a large polyp also calls for bowel resection. Simultaneous multiple intussusceptions requiring multiple bowel resections in a single procedure are possible [23]. Successive intussusceptions are often described as noted in our case, in which reoperation was necessary within a few weeks. All but 4 feet of small bowel remains in our patient. She has not yet shown the short gut syndrome, probably because the distant ileum is still intact. Nevertheless, follow-up barium studies have revealed residual polyps (Figure 5), and we believe that she is susceptible to further intussusception, which may require additional resections. In the event of such a consequence, she may require intermittent parenteral hyperalimentation. Conclusions
Peutz-Jeghers syndrome is being reported with increasing frequency, probably because of increased awareness of the syndrome, better classification of intestinal polyposis syndromes, and because more family studies have been performed. Ours is the first report of Peutz-Jeghers syndrome from Malaysia. From our experience and our review of the literature, we alert readers to the following points in the management of this syndrome. First, Peutz-Jeghers syndrome may exist without all characteristics of the classic triad. Second, mucocutaneous pigmentation when associated with abdominal signs is quite pathognomonic. Third, bowel intussusceptions in
719
Joishy et al
succession are common in this syndrome, and hence prophylactic resection is unwarranted and the main aim of surgery is to salvage as much bowel length as possible. Fourth, when colonic polyps are present they should be differentiated from other familial colonic polyposis syndromes chat are highly premalignant.
7.
a.
9. 10.
Summary 11.
We report for the first time from Malaysia a patient with Peutz-Jeghers syndrome complicated by successive intussusceptions requiring extensive small bowel resection. Our experience is compared with that of other authors by a review of the literature highlighting important points in the diagnosis and management of complications in Peutz-Jeghers syndrome. Acknowledgment: Author S.K.J. thanks the Director of Institute for Medical Research, Kuala Lumpur, for his approval to publish this paper.
12. 13. 14. 15.
16. 17.
References 1. McAlister AJ, Hicker NF, Latimer RG, Condon VR: Seventeen patients with the PeutzJeghers syndrome in four generations. Am J Surg 114: 839, 1967. 2. McAllister AJ, Richards KF: Peutz-Jeghers syndrome. Experience with 20 patients in 5 generations. Am JSurg 134: 717, 1977. 3. Surrinder Kaur, Himmet Singh Sachdeva, Tulsi Dass: The Peutz-Jeghers syndrome: a case report of 2 cases and review of the literature. Aust NZ J Surg 44: 50, 1974. 4. Hutchinson J: Pigmentation of lips and mouth. Arch Surg 7: 290, 1896. 5. Peutz JA: Very remarkable case of familial polyposis of intestinal tract and nasopharynx accompanied by pigmentation of skin and mucous membranes. Ned Maandchr Geneesk 10: 134, 1921. 6. Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.
720
18. 19.
20.
21
22.
23.
A syndrome of diagnostic significance. N Eng/ J Med 241: 993.1031,1949. Dormandy TL: Gastro-intestinal polyposis with muco-cutaneous pigmentation (PeutzJeghers syndrome). N Engl J fvIed 256: 1093,1141,1186,1957. Bartholomew LG, Moore CE, Dahlin DC, Waugh JM: Intestinal polyposis associated with muco-cutaneous pigmentation. Surg Gynecol Obstet 115: 1, 1962. Bailey D: Polyposis of gastrointestinal tract: the Peutz syndrome. Br Med J 2: 433, 1957. Achord JL, Proctor HD: Malignant degeneration and metastasis in Peutz-Jeghers syndrome. Arch Intern Med 111: 498. 1963. Dozois RR, Judd ES, Dahlin DC, Bartholomew LG: The PeutzJeghers syndrome: is there a predisposition to the development of intestinal malignancy? Arch Surg 98: 509, 1969. Thor Aim, Gunnel Ricznerski: The intestinal polyposis. C/in Gastroenterol2: 580, 1973. Reid JD: Duodenal carcinoma in the PeutzJeghers syndrome. Cancer 18: 970, 1965. Reid JD: Intestinal carcinoma in PeutzJeghers syndrome. JAMA 229: 833,1974. Horn RC Jr. Payne WA, Fine G: The PeutzJeghers syndrome (gastrointestinal polyposis with muco-cutaneous pigmentation): report of a case terminating with disseminated gastro-intestinal cancer. Arch Pathol76: 29. 1963. Christian DD: Ovarian tumours: an extension of PeutzJeghers syndrome. Am J Dbstet Gynecol 111: 529, 1971. Humphries AL, Shephud MH, Peters l-N: PeutzJeghers syndrome with colonic adenocarcinoma and ovarian tumour. JAMA 197: 296, 1966. McKusick VA: Genetic factors in intestinal polyposis. JAMA 182: 271, 1962. Gardner EJ: Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet 14: 376, 1962. Woolf CM, Richards RC, Gardner EJ: Occasional discrete polyps of the colon and rectum showing an inherited tendency in a kindred. Cancer 8: 403, 1955. Cronkhite LW Jr, Canada WJ: Generalized gastrointestinal polyposis. An unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J A&d 252: 1011, 1955. Turcot J, Despres JP, St Pierre F: Malignant tumors of the central nervous system assocjated with familial polyposis of the colon. Report of two cases. Dis Colon Rectum 2: 465, 1959. Mergl V: Simultaneous multiple invaginations in PeutzJeghers syndrome. Int Surg 55: 357, 1971.
The American Journal of Surgery
Suresh K. Joishy, MD,* Kuala Lumpur, Malaysia Mala P. Leela, MB, FRACS,’ Seremban, Malaysia Manickavasagar Balasegaram, MB, FRCS,* Kuala Lumpur, Malaysia
Peutz-Jeghers syndrome, also known as intestinal polyposis II, is a familial condition characterized by the triad of (1) mucocutaneous pigmentation, (2) benign polyps occurring in any part of the intestinal tract but mainly in the jejunum, and (3) autosomal dominant inheritance. Although this condition is rare among the familial polyposis syndromes, it is clinically important because of the complications induced by the polyps, leading to abdominal pain, gastrointestinal bleeding, and intussusception. We report a case of Peutz-Jeghers syndrome complicated by successive intussusceptions resulting in extensive small bowel resection. The purpose of this paper is to compare our experience with that of other authors by reviewing the literature and highlighting important points in the diagnosis and management of complications in Peutz-Jeghers syndrome. So far as we know, this is the first report of this entity from Malaysia. Case Report A 14 year old Chinese girl was admitted to the hospital in the early part of January 1978 with colicky abdominal pain and vomiting of 24 hours’ duration. She had a history of recurrent abdominal pains that were not associated with any vomiting, abdominal distension, or melena. Physical examination showed signs of acute intestinal obstruction. Dark pigmented spots on the lips and buccal mucosa were observed (Figure l), and a diagnosis of Peutz-Jeghers syndrome was considered. There was no From the Universityof California ICMR Institutefor Medical Research,+ Kuala Lumpur; the Department of Surgery, General Hospital,t Seremban; and the Departments of Surgery, National University of Malaysiat and General HOSpitdT Kuala Lumpur, Malaysia. This work was supported in part by research grant Al 10051 (UC ICMR) to the Department of International Health, School of Medicine, Universityof California, San Francisco, from the National Instituteof Allergy and Infectious Diseases, National Institutesof Health, U.S. Public Health Service, Bethesda, Maryland. Requests for reprints should be addressed to Professor M. Salasegaram, Department of Surgery, General Hospital, Kuala Lumpur. Malaysia.
716
family history of similar complaints and no pigmented spots were observed in other family members. With a diagnosis of acute intestinal obstruction, an emergency laparotomy was performed. Three feet of gangrenous small bowel about 12 inches from the ileocecal junction was resected. A single polyp was seen leading to invagination (Figure 2). No other polyps were palpable. The patient recovered well from surgery and was discharged. The patient was readmitted in mid-February 1978, with severe abdominal pain, diarrhea, and vomiting. Physical examination revealed a tender central abdominal mass and absent bowel sounds. Exploratory surgery was performed through the previous operative scar. A jujunoileal intussusception travelling from about 1 foot from the duodenojejunal junction to about 3 feet from the ileocecal junction was found (Figure 3). Multiple polyps were palpable within the gangrenous segment (Figure 4). Resection of the entire involved segment, leaving behind only 4 feet of small bowel (1 foot of jejunum and 3 feet of ileum) was carried out. The patient recovered very well postoperatively and was discharged home. Complete gastrointestinal radiography was carried out at the end of May 1978. Multiple scattered polyps were seen in the residual portion of the small bowel (Figure 5). No polyps were seen in the stomach, duodenum, colon, or rectum. The patient is being watched closely with regular follow-up visits. In view of the extensive small bowel resection, she received parenteral hyperalimentation once in 3 months. So far she has shown no signs of the short bowel syndrome. Comments
Peutz-Jeghers syndrome, although rare, has been the subject of several case reports and extensive reviews [l-3]. Although this syndrome has been known since 1896, when it was reported by Hutchinson [4], it was Peutz
[5] who described
the association
of skin
The American Journal of Surgery
Peutz-Jeghers Syndrome
pigmentation with intestinal polyposis and the relation of the polyps to the clinical complication of intussusception. Jeghers et al [S] completed the description of this syndrome by reporting its inheritance by autosomal dominant gene. Thus, PeutzJeghers syndrome is represented by the classic triad of skin and mucosal pigmentation, intestinal polyposis, and inheritance by autosomal dominant gene. The patient reported on herein fulfills the major features of Peutz-Jeghers syndrome: mucocutaneous melanin spots involving typically the lips and buccal mucosa, and gastrointestinal polyposis mainly involving the jejunun and ileum. Our family studies were limited to the patient’s parents and siblings, who showed no polyposis, possibly because of variation in the degree of expression of this gene. Pigmentation: This is usually seen as numerous discrete dark brown spots measuring 2 to 4 mm in diameter. Lips and buccal mucosa are the typical locations but the gums, palate, fauces, nasal mucosa, conjunctiva, and rectum are other sites described. Pigmentation has never been observed on the tongue. Spots on the lips usually do not disappear with age, unlike cutaneous pigmentation. Cutaneous pigmentations are commonly grouped around the mouth, eyelids, and nostrils. Peculiarly, these spots lack hair. Rarely they may be seen on the fingers, palms, and toes. They may fade or disappear completely after puberty. Mucocutaneous pigmentations of Peutz-Jeghers syndrome are asymptomatic and have no malignant potential. Besides their cosmetic implication, they serve as a sign of great diagnostic value in the event the surgeon is faced with evanescent abdominal lumps, acute intestinal obstruction, or unexplained gastrointestinal bleeding [7].
Figure 1. Fifteen year old Chinese girl with Peutz-Jeghers syndrome. Note the prominent pigmented spots on the lips.
Polyposis: The offending feature of Peutz-Jeghers syndrome is the polyposis, and hence complete understanding of its characteristics is essential for proper surgical management. Polyps are predominantly found in the small bowel, mainly the jejunum, sometimes the ileum and duodenum, and rarely the appendix. Outside the small bowel, the polyps are found with equal frequency in the colon and rectum. Gastric polyps are rare. Extraalimentary polyps have been reported in the nasopharynx [S] and the urinary bladder. Intestinal polyps are frequently described during puberty or adolescence and rarely in infancy.
Figure 2, left. Surgical specimen of the first intussusception. Note the single polyp leading to invagination. Figure 3, right. Surgical specimen of the second intussusception; note its extensive nature.
Volume 138, November 1979
717
Joishy et al
Figure 4, left. Multiple po/yps seen in the gangrenous segment of resected bowel. Second intussusception. Figure 5, right. Barium mea/ follow-through. Note the multiple scattered polyps In the residual podion of the small bowel remaining abler surgery for the second intussusception.
Polyps of the Peutz-Jeghers syndrome may be pedunculated or sessile and may vary in number and diameter in the same segment of the bowel [8]. The surface is similar to the mucosa from which they appear. Histologically the polyps are hamartomas, not adenomas, and hence they have no malignant potential. Although there have been genuine reports of malignancy in Peutz-Jeghers polyposis [%15], most observers conclude it is not premalignant. In a study of 14 patients, Reid [13,14] found a 2 to 3 per cent risk of malignancy with Peutz-Jeghers polyposis. It should be emphasized that there could be coincident precancerous adenomatous polyps in the duodeum, stomach, or colon masked by hamartomatous polyps of Peutz-Jeghers syndrome. An important feature of the polyps in the small bowel is their progression by segmental spurts with periods of quiescence lasting many months, as in our case [3]. It is impossible to predict at surgery the possible sites of development of fresh polyps. Complications due to polyposis: Acute intestinal obstruction from small bowel intussusception is the major complication requiring surgery. Even colonic intussusception has been described [2]. Bleeding from polyps is extremely common; it is usually mild,
718
persistent, or recurrent and results in iron deficiency anemia. Less frequently, massive gastrointestinal bleeding may occur, particularly from gastric PolYPs* Unusual manifestations: There are case reports of ovarian tumors associated with Peutz-Jeghers syndrome [16,17]. Differentiation from other polyposis syndromes: McKusick [18] has classified polyposis syndromes as polyposis I, II, III, and IV, Peutz-Jeghers is classified as familial polyposis II. The differential diagnosis of these syndromes is described in Table I. Genetics: Peutz-Jeghers syndrome is inherited as a Mandelian dominant characteristic. About 40 to 45 per cent of the siblings of affected individuals are known to develop this disease, suggesting a high degree of penetrance [2]. The variability of clinical characteristics observed among families and among members of same family suggests variation in the degree of expression of this gene. There may be symptom-free members in a family with few polyps or faint pigmentation who may be scored unaffected. The gene responsible for this condition is potentially effective in the entire gastrointestinal tract. No causal connection between pigmented spots and polyposis has been elucidated. However, mela-
The American Journal of Surgery
Peutz-Jeghers Syndrome
TABLE I
Differential Diagnosis of Intestinal Polyposis Familial Polyposis of the Colon [ 781
Classification Genetic type Predominant site Extraintestinal manifestations Malignant potential
Intestinal polyposis-I Autosomal dominant Colon None
Highly premalignant
Peutz-Jeghers Syndrome [B]
Gardner’s Syndrome [ 791
CronkhiteXanada Syndrome [ 2 I]
Turcot’s Syndrome [ 221
Intestinal polyposis-II Autosomal dominant Small bowel, mainly jejunum Mucocutaneous pigmentation
intestinal polyposis-Ill Autosomal dominant Colon
Intestinal polyposis-IV Autosomal dominant Colon
(May be a variant of polyposis-I) Sporadic, nongenetic Generalized
(May be a variant of polyposis-Ill) Insufficient reports
Osseous and soft tissue tumors
None
Malignant tumors of the central nervous system
Rarely premalignant or none
Frequently premalignant
Insufficient
Alopecia, atrophy of fingernails, mucocutaneous pigmentation Insufficient
notic pigmentation is quite characteristic in association with several other heredofamilial conditions such as neurofibromatosis, the McCune-Albright syndrome, and multiple endocrine adenomatosis. The only explanation one can offer is the fact that melanocytes and the argentaffin cells of the intestine have a common embryonic origin-the neural ectoderm. Surgical management: Based on the combined experience of many authors, the rational approach to the management of Peutz-Jeghers complications should be symptomatic. Prophylactic treatment has no role in the management of small bowel polyps when detected, for several reasons. First, despite the frequent intestinal invagination of these polyps, the majority reduce spontaneously [7]. Second, they have very little malignant potential. Third, it is impossible to predict the location of other polyps or the recurrence of intussusception, as the polyps are known to progress in segmental spurts [3]. Lastly, overzealous resection may lead to malabsorption and mortality. The exception to the above rule may be gastric and duodenal polyps, which could be a coincident premalignant adenoma. Colonic polyps in adults with the Peutz-Jeghers syndrome must also be resected. A conservative approach is usually applied in colonic polyps of children. Intestinal invagination of polyps leading to intussusception and obstruction is a major complication of Peutz-Jeghers syndrome. From our own experience and our review of the literature, we conclude that the incidence of frequent intussusception is greater in patients with the Peutz-Jeghers syndrome than in those with other types of intestinal polyposis. Invagination of the polyps and intussusception could occur at any level of the gastrointestinal tract.
Volume 139. November 1979
Scattered Discrete Polyps [ ZO]
reports
reports
Colon
Insufficient reports
The operative procedure should aim at salvaging small boTe1 length in order to avoid subsequent short gut syndrome. Resection should be limited to the gangrenous segment only, and if the involved segment is viable, the offending polyps should be excised by enterostomy in the healthy segment of the bowel. Although a majority of polyps may be pedunculated, some sessile polyps will require bowel resection. Numerous tiny polyps adjacent to a large polyp also calls for bowel resection. Simultaneous multiple intussusceptions requiring multiple bowel resections in a single procedure are possible [23]. Successive intussusceptions are often described as noted in our case, in which reoperation was necessary within a few weeks. All but 4 feet of small bowel remains in our patient. She has not yet shown the short gut syndrome, probably because the distant ileum is still intact. Nevertheless, follow-up barium studies have revealed residual polyps (Figure 5), and we believe that she is susceptible to further intussusception, which may require additional resections. In the event of such a consequence, she may require intermittent parenteral hyperalimentation. Conclusions
Peutz-Jeghers syndrome is being reported with increasing frequency, probably because of increased awareness of the syndrome, better classification of intestinal polyposis syndromes, and because more family studies have been performed. Ours is the first report of Peutz-Jeghers syndrome from Malaysia. From our experience and our review of the literature, we alert readers to the following points in the management of this syndrome. First, Peutz-Jeghers syndrome may exist without all characteristics of the classic triad. Second, mucocutaneous pigmentation when associated with abdominal signs is quite pathognomonic. Third, bowel intussusceptions in
719
Joishy et al
succession are common in this syndrome, and hence prophylactic resection is unwarranted and the main aim of surgery is to salvage as much bowel length as possible. Fourth, when colonic polyps are present they should be differentiated from other familial colonic polyposis syndromes chat are highly premalignant.
7.
a.
9. 10.
Summary 11.
We report for the first time from Malaysia a patient with Peutz-Jeghers syndrome complicated by successive intussusceptions requiring extensive small bowel resection. Our experience is compared with that of other authors by a review of the literature highlighting important points in the diagnosis and management of complications in Peutz-Jeghers syndrome. Acknowledgment: Author S.K.J. thanks the Director of Institute for Medical Research, Kuala Lumpur, for his approval to publish this paper.
12. 13. 14. 15.
16. 17.
References 1. McAlister AJ, Hicker NF, Latimer RG, Condon VR: Seventeen patients with the PeutzJeghers syndrome in four generations. Am J Surg 114: 839, 1967. 2. McAllister AJ, Richards KF: Peutz-Jeghers syndrome. Experience with 20 patients in 5 generations. Am JSurg 134: 717, 1977. 3. Surrinder Kaur, Himmet Singh Sachdeva, Tulsi Dass: The Peutz-Jeghers syndrome: a case report of 2 cases and review of the literature. Aust NZ J Surg 44: 50, 1974. 4. Hutchinson J: Pigmentation of lips and mouth. Arch Surg 7: 290, 1896. 5. Peutz JA: Very remarkable case of familial polyposis of intestinal tract and nasopharynx accompanied by pigmentation of skin and mucous membranes. Ned Maandchr Geneesk 10: 134, 1921. 6. Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits.
720
18. 19.
20.
21
22.
23.
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The American Journal of Surgery
