Common lesions in a rare entity – Gardner’s syndrome

Gardner’s syndrome (GS) is a rare genetic disorder which is a variant of familial adenomatous polyposis (FAP). It is characterized by a coexistence of multiple intestinal polyps with bone and soft-tissue tumors, frequently impacted teeth or cutaneous and subcutaneous cystic lesions. The syndrome is caused by a mutation of the adenomatous polyposis coli gene (APC) located at chromosome 5q21. The majority of patients have a family history of this disorder [1, 2]. We demonstrate a female patient with this genetic syndrome, which had not been recognized for a long time
A 38-year-old female patient was admitted to the Dermatology Clinic at the Silesian School of Medicine in Katowice due to multiple skin lesions on the trunk. Clinically, these cutaneous findings were oval forms, 2–3 × 1–2 cm in size. All of them were palpable, soft and well circumscribed from the surrounding skin. An initial, clinical diagnosis of epidermoid cysts was further confirmed by histopathology of all five excised lesions (Figures 1, 2).
The first skin lesions appeared 12 years earlier and probably resembled cutaneous fibromas due to a previous clinical suspicion of Recklinghausen disease. Since the beginning, the lesions have been localized predominately on the skin of the abdomen and gradually they started to spread over the trunk and into proximal surfaces of the limbs. Presumptively, similar cutaneous findings were present in a father of our female patient. The man died 7 years earlier at the age of 54 due to a lung cancer and the skin lesions could not be investigated. The family history also highlighted a stomach cancer in a grandfather (died 12 years earlier), as well as a bone tumor of a maxillary sinus in a female cousin of our patient. All these pathologies in the family motivated our female patient to examine herself for potential malignancies. Retrospectively, none abnormalities were detected in several diagnostic tests such as X-ray of the chest, ultrasound imaging (thyroid, abdominal and breast), as well as mammography (taken earlier than the usual screening test in Poland). Cervical smear tests were negative. The most of laboratory blood measurements (ESR, glucose, lipids, electrolytes, urinalysis, TSH, fT3, fT4) stayed within normal limits. Only the plasma iron level was significantly lowered (9 µg/dl; normal: 60–180 µg/dl) and there was a mild anemia: hemoglobin 10.4 g/dl (normal: 12–16 g/dl), red blood count 3.8 million/µl (normal: 3.5–5.2 million/µl)...


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