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| LETTER TO THE EDITOR |
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| Year : 2015 | Volume
: 8
| Issue : 3 | Page : 417-419 |
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Peutz-Jeghers syndrome with oral melanosis: Interesting pictures
Deepak Sharma, Jaivinder Yadav, Eva Garg, Hanish Bajaj
Department of Pediatrics, Pt. B. D. Sharma PGIMS, Rohtak, Haryana, India
| Date of Web Publication | 15-May-2015 |
Correspondence Address:
Deepak Sharma
Department of Paediatrics, Pt. B. D. Sharma PGIMS, Rohtak, Haryana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0975-2870.157119
How to cite this article:
Sharma D, Yadav J, Garg E, Bajaj H. Peutz-Jeghers syndrome with oral melanosis: Interesting pictures. Med J DY Patil Univ 2015;8:417-9 |
Sir,
A 28-year-old primigravida mother delivered a male newborn with normal Apgar score of 8/8/9. The mother was a known case of Peutz-Jeghers syndrome More Details, and she had undergone laparotomy for ileal intussusception and had multiple hamartomatous intestinal polyps. She was diagnosed to have a mutation of gene STK11/LKB1 on chromosome 19. Her story was significant with the previous pregnancy was intrauterine fetal death with hydrops fetalis at 26 weeks of pregnancy. She delivered a history of recurrent intussusception and bleeding per rectum. Physical examination showed hyper pigmented macules over the fingers and oral cavity. Maternal sister also had similar disease with her son expired at age of 6 years because of intussusception and was diagnosed to have intestinal polyps. The neonatal grandmother expired because of pancreatic carcinoma. The index case had pigmentation of the oral cavity with predominance on lower lips [Figure 1]. Pigmentation were dark black in color and involved mucosal surface. The infant was appropriate for gestational age with birth weight of 3.2 kg with head circumference of 35 cm and a distance of 52 cm. The detailed physical examination did not reveal any abnormality except for the presence of accessary nipples. The infant was investigated for Peutz-Jeghers syndrome and was too found to be affected by mutation of STK11/LKB1 genes with mutational analysis showing mutation c. 526G>A, which is a commonly seen mutation in a case of Peutz-Jeghers syndrome. The baby was also assessed with ultrasound of the stomach and renal system, which showed normal study. The baby did not have any melanotic pigmentation over the lips or oral mucous membrane. The child is now under regularly following up. The pedigree chart analysis of the family has been figured in [Figure 2]. | Figure 1: Facial photograph of the mother with Peutz-Jeghers syndrome. Note: The black spots localized in the perioral mucosal area
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 | Figure 2: Pedigree chart of the family showing autosomal dominant inheritance
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| Discussion | |  |
Peutz-Jeghers syndrome is autosomal dominant inherited diseases, which are likewise known by the hereditary intestinal polyposis syndrome. It is characterized by hamartomatous polyps in the gastrointestinal tract (GIT) with hyper pigmented macules on the lips and oral mucosa. It has an incidence of about 1 in 300,000 births. [1] The criteria for diagnosis are deliberately broad.
- Family history of malignant neoplastic disease
- Mucocutaneous lesions
- Hamartomatous polyp in the GIT.
These patients are more probable to develop various GIT tumors, which includes predominantly small intestine, stomach, pancreas, colon, and esophagus. [2],[3] These patients have typical mucocutaneous pigmentation and melanin spots, which take place predominantly in the oral cavity, lips, nostrils, perianal area and digits. Pigmentation of the oral mucosa is pathognomonic of Peutz-Jeghers syndrome and is not associated with other types of dermatologies pigmented lesions. [4],[5]
These patients are to be screened regularly for: [6]
- Small intestine with small bowel radiography every 2 years
- Esophagogastroduodenoscopy and colonoscopy every 2 years for colorectal carcinoma
- Computed tomography scan or magnetic resonance imaging of the pancreas yearly for pancreatic carcinoma
- Ultrasound of the pelvis (women) and testes (men) every year for genital tumor
- Mammography (women) from the age of 25 years and continued till life long
- Papanicolaou test every year.
The patients are to be educated about the regular follow-up as these are prone to develop carcinomas in later life. [6],[7] Resection of the intestinal polyps is done only when it complicates in from of serious bleeding or intussusception. [8]
Learning points
- Parents must be counseled intimately about the inheritance and the possibility of disease involvement in the newborn
- The importance of regular follow-up of the infant should be explained in detail to the parents and the follow-up plan of investigations required should be excused
- The genetic analysis of the infant should be exercised as it is a confirmatory diagnostic test and other manifestations take time for a demonstration.
| References | | |
| 1. | Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin North Am 2008;88:779-817, vii.  |
| 2. | Choi CI, Kim DH, Jeon TY, Kim DH, Shin NR, Park do Y. Solitary Peutz-Jeghers-type appendiceal hamartomatous polyp growing into the terminal ileum. World J Gastroenterol 2014;20:4822-6. |
| 3. | Turpin A, Cattan S, Leclerc J, Wacrenier A, Manouvrier-Hanu S, Buisine MP, et al. Hereditary predisposition to cancers of the digestive tract, breast, gynecological and gonadal: Focus on the Peutz-Jeghers. Bull Cancer 2014;101:813-22. |
| 4. | Miraglia E, Ambrifi M, Persechino F, Visconti B, Calvieri S, Giustini S. An unusual skin manifestation in a patient with Peutz-Jeghers Syndrome. Acta Dermatovenerol Croat 2014;22:213-4. |
| 5. | Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Hamartomatous polyposis syndromes: A review. Orphanet J Rare Dis 2014;9:101. |
| 6. | Tomas C, Soyer P, Dohan A, Dray X, Boudiaf M, Hoeffel C. Update on imaging of Peutz-Jeghers syndrome. World J Gastroenterol 2014;20:10864-75. |
| 7. | Ito S, Tase T, Satoh K, Ueki M, Sato I, Sasano H. Gastric-type endocervical glandular neoplasms associated with aberrant p16 expression and K-RAS gene mutation in Peutz-Jeghers syndrome. Pathol Int 2014;64:283-8. |
| 8. | Torroni F, Romeo E, Rea F, Angelis PD, Foschia F, Faraci S, et al. Conservative approach in Peutz-Jeghers syndrome: Single-balloon enteroscopy and small bowel polypectomy. World J Gastrointest Endosc 2014;6:318-23. |
[Figure 1], [Figure 2]
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