Barraquer–Simons syndrome with benign infundibulocystic proliferation


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Abstract

A white man attended our outpatient clinic because of soft papules on the second finger of the left hand. They were livid red-colored, warty surfaced cysts, 1–2 cm in diameter, arranged in an annular configuration (Fig. 1). The patient showed prominent zygomatic bones and symmetric loss of buccal fat pads (Bichat's fats), leading to sunken cheeks (Fig. 2). The history of the patient could not be taken because of his debility.Laboratory findings included: hemoglobin, 14.5 g/dL; Htc, 41.6%; red blood cells (RBC), 4.67/μL; white blood cells (WBC), 10.3 × 103/μL; Plt, 274 × 103/μL; mean corpuscular volume (MCV), 89.1 fL; mean corpuscular hemoglobin (MCH), 31.0 pg; mean corpuscular hemoglobin concentration (MCHC), 34.8 g/dL; blood urea nitrogen, 33 mg/dL; creatinine, 0.7 mg/dL; cholesterol, 152 mg/dL; total protein, 8.1 g/dL; albumin, 4.6 g/dL; total bilirubin, 0.5 mg/dL; direct bilirubin, 0.1 mg/dL; calcium, 8.8 mg/dL; erythrocyte sedimentation rate, 6 mm/h; urinalysis, normal – there was no anomaly in the urine in 24 h. The patient was negative for antinuclear antibody (ANA), anti-DNA, anticentromer antibody, Scl 70 antibody, hepatitis B surface antigen (HBsAg), and human immunodeficiency virus (HIV).Chest X-ray was normal. Hand X-ray showed bone cysts on the distal phalanx of the second finger of the left hand.Histologic examination of the papules on the second finger of the left hand revealed multilobulated or, in other words, proliferating cystic structures lined by epithelium similar to the infundibular epithelium of the hair follicle. The cysts were connected with the surface of the skin and were filled with cornified cells in a basket-weave array (Fig. 3).The IQ was measured as 50 indicating mental retardation. Audiogram could not be performed, but sensory neural hearing loss was suspected. After 1.5 months of pimozide therapy (Nörofren, 2.5 mg/day), hearing loss was measured as 50% and a diagnosis of otosclerosis was made. The cystic lesions resolved completely and Bichat's fats regenerated partially.

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