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 Table of Contents  
THE CLINICAL PICTURE
Year : 2017  |  Volume : 4  |  Issue : 2  |  Page : 118-120

A rarely seen full blown picture of Peutz–Jeghers syndrome


1 Department of Dermatology, Venereology and Leprosy, Government Medical College, Haldwani, Uttarakhand, India
2 Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India

Date of Web Publication1-Dec-2017

Correspondence Address:
Anup K Tiwary
Senior Resident, Flat No. 27, 5-Set Building, Rohilkhand Medical College and Hospital, Pilibhit Bypass Road, Near Suresh Sharma Nagar, Bareilly, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2349-5847.219680

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How to cite this article:
Tiwary AK, Mishra DK. A rarely seen full blown picture of Peutz–Jeghers syndrome. Pigment Int 2017;4:118-20

How to cite this URL:
Tiwary AK, Mishra DK. A rarely seen full blown picture of Peutz–Jeghers syndrome. Pigment Int [serial online] 2017 [cited 2018 Sep 19];4:118-20. Available from: http://www.pigmentinternational.com/text.asp?2017/4/2/118/219680



A 22-year-old male presented with numerous mucocutaneous pigmented macules and patches over his face, lips, buccal mucosa, both palm and soles, and palmar aspect of fingers since his childhood [[Figure 1] and [Figure 2]]. The number of these lesions increased over the past few years. For the last 2 years, he was having symptoms of flatulence, altered bowel habit, and colicky abdominal pain with blood in stool. His complete hemogram, blood sugar, urine analysis, hepatic, and renal profile were normal. Human Immunodeficiency Virus and Venereal Disease Research Laboratory test were also non-reactive. Serum cortisol, adrenocorticotropic hormone, and vitamin B12 levels were within normal limits, and there was no such family history. On colonoscopy, multiple sessile polyps of varying sizes were seen in anus, rectum, sigmoid colon, descending, transverse, and ascending segment of colon [Figure 3]. Biopsy of polyps, abdominal computerized tomography (CT) scan, and oesophagogastroduodenoscopy (OGD) could not be performed because of denial of the patient due to his financial and time constraints. All these clinical and colonoscopic findings were most probably consistent with the diagnosis of Peutz–Jeghers syndrome (PJS).
Figure 1: Numerous pigmented macules of variable sizes on (a) face and lips and (b) buccal mucosa

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Figure 2: Pigmented macules on (a) palm and fingers and (b) sole

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Figure 3: Multiple sessile large polyps in (a) anus and rectum, (b) sigmoid colon, (c) transverse colon and (d) ascending colon and caecum

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PJS is an autosomal-dominant inherited disease caused by mutations in the STK11/LMB1 gene (coding for serine threonine kinase) located on chromosome 19p. It has an incidence of about one in 300,000 births and is clinically manifested by mucocutaneous pigmentations in association with intestinal polyps. There is several-fold greater lifetime risk of gastrointestinal and extragastrointestinal malignancy, particularly of colon, duodenum, stomach, pancreas, breast, and ovary which increases with age.[1] Besides this, patients are also prone to develop small intestinal intussusceptions causing obstruction and per rectal bleeding (as in our case).

The close differential diagnoses for PJS include lichen planus, Addison’s disease, megaloblastic anemia, acquired immune deficiency syndrome, juvenile polyposis syndrome, Laugier–Hunziker syndrome, and Cronkhite–Canada syndrome.[2]

To confirm the diagnosis of PJS, World Health Organization has also devised a criterion, which warrants the histopathologic confirmation of PJS polyps. But the peculiar presence of both components, mucocutaneous pigmented macules in buccal mucosa, lips, face, palm, soles, and fingers and multiple gastrointestinal polyps (as both components noted in our case), is not seen in any other condition. Hence, PJS is the most probable diagnosis.

Management of PJS is usually based on two-pronged approach including preventive and therapeutic approaches. Early diagnosis, evaluation of the severity of the condition, and surveillance usually need colonoscopy, OGD, CT scan, capsule endoscopy, and magnetic resonance enterography. Correction of severe ileal intussusceptions, intestinal obstructions, or polypectomy is best offered by laparoscopic or enteroscopic approach.[3]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Shivaswamy KN, Shyamprasad AL, Sumathy TK, Ranganathan C. Peutz-Jeghers syndrome with prominent palmoplantar pigmentation. Indian J Dermatol Venereol Leprol 2008;74:154-5.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Disturbances of pigmentation. In: James WD, Berger TG, Elston DM, editors. Andrew’s Diseases of the Skin. Clinical Dermatology. 10th ed. Philadelphia: Saunders-Elsevier; 2006. p. 853-68.  Back to cited text no. 2
    
3.
Ranjan R, Nath D, Dey S, Arava S. Multifocal Jejuno-ileal carcinoma in a 7-year-old boy with Peutz-Jeghers syndrome: A rare occurrence. Indian J Med Paediatr Oncol 2014;35:121-2.  Back to cited text no. 3
[PUBMED]  [Full text]  


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