Melanic Perioral Lip Spots Peutz-Jeghers

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Note what signs you see.

I (W. Wertelecki, M.D.) see melanic lip spots and multiple skin small melanic spots (lentigenes). These signs are strong signals suggesting the possibility of a concurrent intestinal hamartomatous polyposis, most frequently called Peutz-Jeghers syndrome.

PERSPECTIVE: Separately (in the “Clinical Pearls” channel) we elaborate on the importance of the melanic skin and membranes signs. In terms of the Peutz-Jeghers Syndrome, the most consistent and stigmatic signs include: stomach and small intestine polyps (often symptomatic such as pain, bleeding, obstructions). The pigmentary spots include areas of the oral mucosa, vagina, and peri-anal regions. Regarding the skin, multiple lentigenes tend to cluster around the peri-oral area. The importance of early recognition cannot be overemphasized – this is a HIGH CANCER RISK SYNDROME (cancers of stomach, small intestine, pancreas, cervix, ovary, and breast are noted). The disorder may be familial because it results from a gene mutation that can be inherited. The gene mutation is rare and is called STK 11 or LKB 1 – the gene regulates the serine – threonine kinase 11 (a tumor suppressor). The locus (location) of this gene is on the short arm of chromosome 19 area 13.3 (19p13.3). Vice versa, a FAMILY HISTORY OF CANCER should trigger a SEARCH FOR PIGMENTED LESIONS of the skin-mucosa.


Tags: dysmorphmix3