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Nevus-like lesions on the lip and the foot

Published:January 12, 2018DOI:https://doi.org/10.1016/j.ejim.2017.12.017

      1. Case description

      Our 18-year-old male patient was admitted to our hospital with the complaints of impaired growth of body hair and erectile dysfunction. He was 1.77 cm and 51 kg with BMI of 16.7 kg/m2. Micrognathia, high arched palate and low-set ears were present. There were blue, nevus-like lesions on the lip (Fig. 1A ), and the foot (Fig. 1B). Laboratory results: Hb: 9.6 mg/dL, WBC: 3.80 × 109/L, plt: 238,000/μL, FSH: 14.17 IU/L, LH: 3.81 IU/L, PRL: 21.10 pmol/L, ACTH: 6.18 pmol/L, cortisol: 347.61 nmol/L, 17OHprogesteron: 5.41 nmol/L, T-testosterone: 14.60 nmol/L, FT4: 16.22 pmol/L, TSH: 3.58 mIU/mL. Karyotype test result: 46XY. Upon gastroscopy; erosive gastroesophageal reflux, hemangioma on esophagus, melanosis on fundus, erosive gastritis in corpus, melanosis in antrum, antral gastritis and ulcus on hemorrhagic bulbar were detected. The medical history of our patient showed that he had 8 operations on his tongue. The biopsy from nevus-like lesions from different part of the body showed cavernous hemangioma. Abdominal CT scan images of our case revealed a 4-cm soft tissue lesion, most probably a venous angioma containing calcifications at the left adrenal lodge (Fig. 1C), a small polypoidal soft tissue lesion containing calcifications on the posterior gastric wall (Fig. 1D), soft tissue lesions containing punctual calcifications in the sigmoid colon (Fig. 1E) and soft tissue lesions containing calcifications on the coronal plane (Fig. 1F). What is the diagnosis?
      Fig. 1
      Fig. 1A. Blue, nevus-like lesions on the lip.
      B. Blue, nevus-like lesions on the foot.
      C. Abdominal CT scan image - white arrows: lesions, yellow arrows: calcifications.
      D. Abdominal CT scan image - white arrows: lesions.
      E Abdominal CT scan image - white arrows: lesions.
      F. Abdominal CT scan image - coronal plane. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

      2. Discussion section

      Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare disease with only 200 cases reported so far [
      • Bak Y.T.
      • CH Oh.
      • Kim J.H.
      • Lee C.H.
      Blue rubber bleb nevus syndrome: endoscopic removal of the gastrointestinal hemangiomas.
      ]. Bean first described the syndrome in 1958 [
      • Bean W.B.
      Blue rubber bleb nevi of the skin and gastrointestinal tract.
      ]. The common finding in this syndrome is venous malformations which may be present at birth or could later appear in childhood and increase in size and number in years. Due to the potential for serious bleeding, early diagnosis and management becomes of importance [
      • Oksuzoglu B.C.
      • Oksuzoglu G.
      • Ulkem C.
      • et al.
      Blue rubber bled nevus syndrome.
      ]. Iron deficiency anemia, which is caused by vascular bleeding in the gastrointestinal system, is the most common BRBNS [
      • Akutko K.
      • Krzesiek E.
      • Iwanczak B.
      Blue rubber bleb naevus syndrome.
      ]. Here, we present a case with BRBNS that applied to our endocrinology clinic with hypogonadism symptoms.
      BRBNS is a rare disease that primarily involves the skin and gastrointestinal system, and is characterized with hemangioma-like recurrent vascular malformations. The syndrome may also involve the brain, liver, lung and skeletal muscles [
      • Bean W.B.
      Blue rubber bleb nevi of the skin and gastrointestinal tract.
      ,
      • Dwivedi M.
      • Misra S.P.
      Blue rubber bleb nevus syndrome causing upper GI hemorrhage: a novel management approach and review.
      ]. Due to lesions on the tongue and in the gastrointestinal system, protein energy malnutrition is observed in patients. There was no pathology in the laboratory results of our patient to explain the hypogonadism symptoms.
      Hypogonadism symptoms should be carefully examined in terms of hypophysis as hemangiomas can involve the brain in BRBNS. No case with these symptoms was found in the literature. Along with skin and the gastrointestinal system, it is also important to examine this rare disease with respect to involvement of endocrine organs like adrenal, hypophysis, and gonad.

      Conflict of interest

      The authors declare that there is no conflict of interests regarding the publication of this paper.

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