4. A 6 Years Old Male with Multiple Black Spots on Face

P. C. Das¹

(1)

Apoorva Skin Centre, Katihar, India

P. C. Das

Keywords

Childhood lentiginosisFamilial lentiginosis syndromeMucocutaneous pigmentationSerine/threonine kinase II gene mutationGastrointestinal polypMalignancies

A 6 years old male presented with the complaints of multiple black spots on the lips, perinasal and perioral areas since the early childhood. Personal history was remarkable for multiple episodes of abdominal colic and a few occurrences of rectal bleeding. There was history of having similar lesions in his sibling without any systemic complaint. On examination, gums, buccal mucosa, tongue and the hard palate were remarkable for multiple, discrete, brown to black pigmented macules (Figs. 4.1 and 4.2). Similar pigmented macules were present over the dorsum of fingers and toes and over the palms and soles (Fig. 4.3). Some nails had developed dark linear bands (melanonychia). The patient admits that all the spots except those over the lips were fading. Systemic examination was non-contributory. Based upon the above history and examination findings, what is the diagnosis?

1.

LEOPARD syndrome
2.

Peutz-Jegher’s syndrome
3.

Addison’s disease
4.

Laughier-Hunziker syndrome

../images/471276_1_En_4_Chapter/471276_1_En_4_Fig1_HTML.jpg — Figure 4.1

Young boy having dark brown coloured discrete and coalescing macule over lips. (Courtesy: Dr. Kanyarani Vashishth)

../images/471276_1_En_4_Chapter/471276_1_En_4_Fig2_HTML.jpg — Figure 4.2

Pigmented macules on buccal mucosa. (Courtesy: Dr. Kanyarani Vashishth)

../images/471276_1_En_4_Chapter/471276_1_En_4_Fig3_HTML.jpg — Figure 4.3

Pigmented macules of Peutz-Jegher’s syndrome on palms. (Courtesy: Dr. Kanyarani Vashishth)

Diagnosis

Peutz-Jegher’s syndrome

Discussion

Peutz-Jegher’s syndrome (PJS), also known as periorificial lentiginosis is a familial lentiginosis syndrome with autosomal dominant inheritance without any sex and racial preponderance. The condition develops due to mutation of a serine/threonine kinase 11gene (LKB1/STK11), located on chromosome 19p13 [1] and is characterised by mucocutaneous pigmentation, gastrointestinal polyps and increased risk of malignancies.

At birth or infancy onwards, dark brown-blue to brown-black pigmented macules of 2–4 mm size develop over lips, gums, buccal mucosa, hard palate, perioral, perinasal, periorbital, perianal skin, palms, soles, dorsum of finger and toes. Additionally, nails may show melanonychia. Except for mucosal lesions, these pigmented macules tend to fade away with time and by adulthood. Localization of pigmented macules in the oral mucosa is characteristic and very suggestive of Peutz-Jegher’s syndrome. The diagnostic criteria put forward by World Health Organization (WHO) allows diagnosis of PJS if characteristic mucocutaneous pigmentation is present in a person with a family history of PJS.

Another hallmark of the disease is multiple benign polyps of the gastrointestinal tract. The common sites of affection are small intestine (64% in order of jejunum, ileum and duodenum), colon (63%), stomach (49%) and rectum (32%). The symptoms related to gastrointestinal polyposis are anaemia, vomiting, rectal bleeding, haematemesis, melaena, repeated abdominal colic, obstruction (usually of small intestine) and/or intussusception, infarction and extrusion of polyp. Symptomatic polyps usually present for the first time in adolescence and early adulthood; up to one-third of patients experience polyp-related symptoms by 10 years of age. Gastric outlet obstruction may present as early as in the neonatal period. Abdominal pain due to polyps causing subtotal obstruction increases in frequency and in intensity with age. Affected patients may develop extraintestinal polyps too; common manifestations include nasal polyps, gall bladder polyps, ureteric polyps, and respiratory tract polyps. These extraintestinal polyps too contribute to morbidity in patients with PJS [2].

The most feared complication is increased risk of malignancies both intestinal and extraintestinal. In general, risk of developing malignancy increases with age and is greater in females than in males. The most commonly reported include colon (39%), small intestine (13%), pancreatic (11–36%), stomach (29%), breast (45–50%), ovary (18–21%), and uterus (9%) cancers. Testicular carcinoma, lung carcinoma and thyroid carcinoma also have been reported [3]. Periodic follow up with endoscopy, colonoscopy, barium follow-through, biopsy and pelvic examination is required.

Diagnostic criteria based on the National Comprehensive Cancer Network (NCCN) 2018 guidelines includes presence of two or more of the following features: at least two biopsy proven Peutz-Jegher’s-type hamartomatous polyps of the gastrointestinal (GI) tract; mucocutaneous hyperpigmentation affecting the eyes, nose, mouth/lips, fingers, or genitals; and a family history of Peutz-Jegher’s syndrome [4].

Common clinical differential diagnoses include Laughier Hunziker syndrome, LEOPARD syndrome, Addison’s disease and Bannayan-Riley-Ruvalcaba syndrome, as summarized in Table 4.1 [5].

Table 4.1 Summary of differential diagnosis of Peutz-Jegher’s syndrome

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