An unusual skin manifestation in a patient with Peutz-Jeghers Syndrome.
نویسندگان
چکیده
Peutz-Jeghers Syndrome (PJS; MIM 175200) is a rare autosomal dominant syndrome with variable inheritance, characterized by hamartomatous polyps in the gastrointestinal tract, mostly in the small bowel, and pigmented muco-cutaneous lesions (1). Hereditary disorders constitute 70% of PJS cases. The other 30% of cases occur without any previous family history, as a result of spontaneous genetic mutations. The prevalence is estimated at 1/25,000 to 1/230,000 live births, with no racial or sexual predilection (2). The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the serine/threonine kinase 11 (STK11) gene, which is located at 19p13.3. Melanic spots are the earliest manifestation of PJS, typically appearing in the first year of life, and represent the muco-cutaneous marker of this syndrome. They are most commonly seen on the lips and buccal mucosa, anal and intestinal mucosa, nasal and periorbital regions, hands and feet. Rarely, nail pigmentation is observed (3). Melanonychia is a brown or black pigmentation of the nail plate caused by the presence of melanin, and is extremely rare in PJS. We report on a case of a 60-year-old woman diagnosed with Peutz Jeghers syndrome who presented an unusual acral pigmentation with longitudinal melanonychia. A 60 year old woman was referred in our department in September 2012 for evaluation of hyperpigmented macules of the fingers, lips, buccal mucosa, and nails, present from the age of 15. Brown macules of 1-3 mm were found on the lower and upper lips and gingival mucosa (Figure 1). There was no ulceration inside the mouth. The patient presented brown, round, and oval macules 1-5 mm in diameter on the fingers.The nails of the first and second finger of the right hand showed 4-5 mm thick longitudinal brownish bands (Figure 2). There was no history of any drug intake (including antimalarials, minocycline, or gold therapy), exposure to radiation, PUVA, or any trauma prior to the onset of the pigmentation. The Hutchinson sign was also negative. Physical examination showed abdominal bloating. The patient reported a minor pain throughout the abdomen on palpation. Rectal examination showed no pathological mass, and there were traces of feces on the glove.
منابع مشابه
Unusual presentation of intussusception of the small bowel with peutz jeghers syndrome: report of a case.
The Peutz Jeghers syndrome (PJS) is an autosomal dominant disorder which is characterised by hamartomatous polyposes of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. We are reporting a case of a 15-year-old male with Peutz Jeghers syndrome, who presented to us with features of chronic intestinal obstruction and anaemia. Init...
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ورودعنوان ژورنال:
- Acta dermatovenerologica Croatica : ADC
دوره 22 3 شماره
صفحات -
تاریخ انتشار 2014