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Ring X chromosomes that lack the X inactivation center and fail to be inactivated have been implicated as a cause of mental retardation and multiple congenital anomalies. We report on a stillborn fetus with karyotype mos45,X/46,X,r(X) and early urethral obstruction or prune-belly sequence, single umbilical artery, limb deficiency, horseshoe kidney, cardiac hypertrophy, persistent left superior vena cava, and axial skeleton abnormalities. Fluorescent in situ hydridization (FISH) studies confirmed that the ring chromosome is X-derived and demonstrated that it lacks the XIST locus. The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.

A 40-year-old Caucasian man presented to the dermatology clinic at Baylor College of Medicine, Houston, Texas, in February 2003, for the evaluation of three nonhealing ulcers. The patient's past medical history was significant for hypothyroidism and pulmonary sarcoidosis, the diagnosis of which was made in June 2000. In March 2000, the patient had complained of cough and shortness of breath. A purified protein derivative (PPD) (Mantoux text) was negative. Computed tomography (CT) scans of the chest revealed diffuse hilar and mediastinal adenopathy and bilateral interstitial and alveolar infiltrates. Although consistent with sarcoidosis, these findings were insufficient to exclude other etiologies, including disseminated fungal infection. Cultures and stains of subsequent bronchoscopy specimens failed to reveal any organisms, and histopathologic evaluation of the specimens was nondiagnostic. Based on the imaging studies and the negative cultures, a diagnosis of sarcoidosis was made, and the patient was started on therapy with prednisone. Before coming to our clinic, the patient had been on several courses of prednisone. In May 2002, the patient had presented to a private dermatologist with a 1-year history of a nonhealing 2.4 cm x 2.0 cm ulcer on the left medial forearm. Two biopsies were reported as nondiagnostic. The patient's presentation was interpreted as most consistent with Mycobacterium marinum infection, and so he was empirically treated with minocycline. This treatment was continued for almost 3 months without improvement in the ulcer. A few months after the minocycline had been discontinued, the patient was treated empirically for 2 months with ciprofloxacin. This treatment was also unsuccessful in ameliorating the ulcer. In between the two courses of antibiotics, specimens from the lesion were sent for bacterial and fungal cultures, which revealed normal skin flora. In January 2003, the patient returned to his private dermatologist with three ulcerations. In addition to the nonhealing ulcer on his left forearm, which he had acquired several months earlier, he had also developed a 3.0 cm ulcer on his right arm and a 3.0 cm ulcer on his central back. The patient refused biopsies at this visit. Given the patient's previous diagnosis of pulmonary sarcoidosis, it was thought that the skin lesions might represent ulcerative cutaneous sarcoidosis. Pyoderma gangrenosum was also considered to be a likely diagnosis. Therefore, the patient was started on a course of oral prednisone, an effective therapy for both sarcoidosis and pyoderma gangrenosum. Despite 1 month of treatment with 60 mg/day of prednisone, the ulcers increased, and the patient was subsequently referred to our clinic. Physical examination at the time of presentation revealed steroid acne on the trunk and upper extremities and three non-tender ulcers with erythematous, undermined borders (Figs 1-3). On the left arm, there was an adjacent nodule which the patient attributed to a scar from a previously healed ulcer. Histologic examination of biopsy ...