Blue toe syndrome as a first sign of systemic sclerosis.

We describe an unusual case of blue toe syndrome as the primary and solitary manifestation of systemic sclerosis. The possible cause was long-term occupational exposure in construction work. Blue toe syndrome is a small vessel disease, characterised by the sudden development of painful, blue discolouration in one or more toes. The most common aetiology is atheroembolic disease; however, it can also appear in several conditions ranging from hypercoagulability disorders to underlying systemic diseases such as vasculitis or autoimmune diseases. Here, we describe the case of a 57-year-old man who presented with blue toe syndrome without underlying atheroembolic disease. He was found to have positive anticentromere antibodies, which indicated that systemic sclerosis was the likely primary underlying cause. An extensive systemic evaluation and a thorough physical examination revealed no other symptoms associated with systemic sclerosis. He was prescribed nifedipin and rosuvastatin, and showed complete resolution of symptoms after 3 months.

Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.

Cholelithiasis is a common problem in the Western world. Recurrent gallstones after cholecystectomy, however, are rare. We describe a case of a young woman with recurrent gallstones after a laparoscopic cholecystectomy leading to cholangitis during pregnancy. Additional testing revealed an ATP-binding cassette B4 (ABCB4) gene mutation. ABCB4 gene mutations leading to a multidrug resistance (MDR)3-P-glycoprotein deficiency are related to, among other diseases, recurrent cholelithiasis. Medical treatment consists of administering oral ursodeoxycholic acid. If untreated, MDR3 deficiency can lead to progressive liver failure requiring liver transplantation.

Emphysematous cystitis due to recurrent Clostridium difficile infection.

A 78-year-old woman with long-standing obstipation presented herself to the hospital with diarrhoea and progressive abdominal cramping since 2 days. Acute abdomen developed and an emergency exploratory laparotomy was indicated, which showed no signs of bowel ischaemia. After admission to the internal ward, stool Clostridium difficile PCR was tested positive. Hence the diagnosis of pseudomembranous colitis became apparent. Abdominal imaging demonstrated multiple gas foci in the wall of the bladder and extensive pseudomembranous colitis. The patient was initially treated with oral vancomycin and secondarily with metronidazole for recurrent C. difficile infection. Resolution of diarrhoea and abdominal cramping was noted on 6-week follow-up visit.

Severe facial swelling in a pregnant woman after using hair dye.

A 33-year-old Caucasian pregnant woman (26 weeks' gestation) presented to the emergency department. She had a 2-day history of severe itching of the scalp and steadily worsening swelling of the face over the previous 12 h, which had extended to the neck. She had no difficulty breathing. The itching and swelling had developed 3 days after she had used hair dye. The patient had no history of allergic responses to hair dye or black henna tattoos. A diagnosis of type IV delayed hypersensitivity reaction was made. Permanent hair dyes are the most frequently used professional hair dyes and are most commonly based on paraphenylenediamine (PPD) or related chemicals. PPD is known to be one of the most potent allergens which cause allergic contact dermatitis. After treatment with intravenous antihistamines and steroids, the facial swelling reduced and the patient had completely recovered by the following day.

Bilateral axillary arterial obstruction.

A 74-year-old patient with longstanding diabetes mellitus and hypertension presented with obstruction in both axillary arteries. Although atherosclerotic obstructive disease would have been the most likely diagnosis in this patient, clinical findings were highly suggestive of extracranial giant-cell arteritis. Prompt treatment with systemic corticosteroids resulted in an excellent clinical response, avoiding the risks of endovascular or surgical intervention.

Adult onset of a Thalassemia intermedia genotype in association with a -alpha-3.7 homozygosity. Hb G-Accra [beta73(e17)Asp-->Asn] in combination with beta- and alpha-thalassemia in the same family.

We present the case of a 39-year-old male of mixed Black and Chinese Surinamese origin referred because of abdominal pain and extreme tiredness. The patient reported that he had received a single blood transfusion in his youth and presented at intake with a severe microcytic hypochromic anemia. A chest X-ray and computer tomography (CT)-scan revealed bilateral mediastinal lymphadenopathy and interstitial infiltrates. Elevated Hb F (80%) and an unbalanced synthesis ratio (beta/alpha = 0.18) were compatible with severe beta-thalassemia (thal) intermedia. DNA analysis revealed a double heterozygoty for the -88 (C-->T) and the IVS-II- 654 (C-->T) mutations in the presence of a homozygosity for the -alpha3.7 deletion. The two daughters of the proband were both heterozygous for the IVS-II-654 (C-->T) mutation and the -alpha3.7 deletion. The youngest daughter also carried the Hb G-Accra [beta73(E17)Asp-->Asn] mutation, inherited from the mother. Hb G-Accra, a mutant of presumed Ghanaian origin, described as non pathological in the carrier, is reported for the first time in combination with a severe fbeta(+)thal. The molecular background, haplotype of the mutations and a new A--> polymorphism at -309, 5' to the G(gamma) romoter, are reported.