Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin.

Familial multiple discoid fibromas is a rare genodermatosis that bears some resemblance to Birt-Hogg-Dubé syndrome but is not associated with mutations in the folliculin (FLCN) gene or systemic manifestations. It is characterized by the development of papules over the face and pinnae early in life. Histological findings are of fibrovascular tumours adjacent to hair follicles without features characteristic of fibrofolliculomas, which have recently been termed discoid fibromas. We present siblings with multiple papules over the face and pinnae that developed in childhood. Histological specimens from both siblings demonstrated discoid fibromas, but with some lesions exhibiting an unusual keloidal-like pattern with thick hyalinized collagen fibres surrounded by plump spindle and histiocyte-like cells. FLCN gene mutations were not found. We report on clinical improvement with topical rapamycin solution (1 mg mL(-1)) applied daily to the face for 4 months. Therapeutic response to topical rapamycin may provide a clue to the underlying genetic basis of this condition.

Operationalizing early antiretroviral therapy in HIV-infected in-patients with opportunistic infections including tuberculosis.

BACKGROUND: We describe the outcomes of a program in which antiretroviral therapy (ART) is offered to human immunodeficiency virus (HIV) infected patients in South Africa admitted with tuberculosis (TB) or other opportunistic infection (OI) as part of in-patient care. METHODS: Patients admitted with HIV and concurrent TB or other OI were initiated on early in-patient ART. The primary and secondary endpoints were respectively 24-week mortality and 24-week virologic suppression. Multivariable logistic regression modeling explored the associations between baseline (i.e., pre-hospital discharge) characteristics and mortality at 24 weeks. RESULTS: A total of 382 patients were prospectively enrolled (48% women, median age 37 years, median CD4 count 33 cells/mm(3)). Acute OIs were pulmonary TB, 39%; extra-pulmonary TB, 25%; cryptococcal meningitis (CM), 10%; and chronic diarrhea, 9%. The median time from admission to ART initiation was 14 days (range 4-32, IQR 11-18). At 24 weeks of follow-up, as-treated and intention-to-treat virologic suppression were respectively 57% and 93%. Median change in CD4 cell count was +100 cells/mm(3), overall 24-week mortality was 25% and loss to follow-up, 5%. Excess mortality was not observed among patients with CM who initiated early ART. A longer interval between admission and ART was associated with mortality (>21 days vs. <21 days after admission OR 2.1, 95%CI 1.2-4.0, P = 0.016). CONCLUSIONS: For HIV-infected in-patients with TB or an acquired immune-deficiency syndrome defining OI, we demonstrate the operational feasibility of early ART initiation in in-patients.

Reaction to biological drugs: infliximab for the treatment of toxic epidermal necrolysis subsequently triggering erosive lichen planus.

Toxic epidermal necrolysis (TEN) is a rare, life-threatening skin reaction for which there is currently has no standardized treatment, despite its significant mortality. Biological agents such as tumour necrosis factor (TNF)-α antagonists are emerging as a novel treatment for patients with TEN. We report a 32-year-old woman who developed TEN secondary to sulfasalazine, which was treated with infliximab. The infliximab treatment subsequently triggered erosive lichen planus (LP) involving the mouth and vulva. Clinicians should be aware that TNF-α antagonists can cause LP as a paradoxical complication of treatment.

Heliotherapy: A South African perspective.

The research objective was to gather and collate data that will enable dermatologists to quantify exposure to solar radiation so that they can give accurate advice to patients using heliotherapy, thereby minimising harm from sun exposure. Other patients can also be advised regarding ultraviolet index (UVI) and sun safety. The concept of minimal erythema dose per hour (MED/h) may be useful in future research into solar radiation and its effects on skin cancer.

Left ventricular diastolic filling abnormalities identified by Doppler echocardiography in asymptomatic patients with sickle cell anemia.

To determine whether left ventricular diastolic abnormalities are an early feature of sickle cell anemia, indexes of diastolic filling were obtained with pulsed Doppler echocardiography in 30 consecutive patients with this disease (mean age 29 years; range 19 to 39) who had not experienced symptoms of heart failure and had normal left ventricular systolic function. Data were compared with those in 30 normal control subjects of similar ages. Seventeen (57%) of the 30 patients with sickle cell anemia had evidence of abnormal left ventricular diastolic filling. Six of these 17 patients had a Doppler pattern consistent with "restrictive" filling, characterized by reduced early diastolic deceleration time (less than 110 ms) or an increased rate of decline of early flow velocity (EF slope greater than 7.4 m/s2), or both, as well as decreased late diastolic velocity-time integral (2.6 +/- 0.7 vs. 3.4 +/- 0.8 cm in normal subjects; p less than 0.05). Another 11 patients showed a Doppler waveform consistent with impaired relaxation, characterized by prolonged deceleration time (greater than 166 ms) or reduced EF slope (less than 3.8 m/s2), as well as increased late diastolic velocity-time integral (4.0 +/- 0.5 vs. 3.4 +/- 0.8 cm in normal subjects; p = 0.03). This Doppler echocardiographic analysis demonstrates that left ventricular diastolic filling patterns are altered in patients with sickle cell anemia and that these diastolic abnormalities may be present in the absence of symptoms of heart failure. These abnormal patterns suggest an intrinsic myocardial abnormality in patients with sickle anemia and may prove to be early markers of cardiac disease.

Anomalous coronary artery originating from the left anterior descending artery and ending in a blind aneurysm.

To the authors' knowledge this is the first report of an anomalous coronary artery originating from the left anterior descending artery and ending in a blind aneurysm.