Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis.

XLP is an erythroid porphyria that results in variable cutaneous photosensitivity due to accumulation of protoporphyrin. The genetic defect in XLP is mutation of the gene ALAS2, resulting in gain of function for the erythroid enzyme 5-aminolevulinate synthase 2. Previous reports have shown that protoporphyrin-induced liver disease may also occur in XLP, occasionally severe enough to warrant liver transplantation; however, transplantation may be followed by injury to the graft due to continued presence of the underlying metabolic disorder in the bone marrow. We present a case of XLP with severe liver disease successfully treated with HPCT to avoid liver transplantation. The case also demonstrates the feasibility of reduced intensity transplant to provide engraftment sufficient for correction of porphyria and tolerability of reduced intensity conditioning containing TLI in the face of severe liver injury.

Diffuse lichenplanopilaris and multiple squamous neoplasms.

Lichen planus is an inflammatory process that can affect the skin, mucosa, and hair follicles. An increased risk of squamous cell carcinoma has been noted in lichen planus of the mucosa. Rarely, in chronic, hypertrophic lichen planus of the skin, squamous cell neoplasms have been reported. We report a case of new onset lichen planopilaris with multiple squamous cell neoplasms.

Neonatal subarachnoid hemorrhage disrupts multiple aspects of cerebellar development.

Over the past decade, survival rates for extremely low gestational age neonates (ELGANs; <28 weeks gestation) has markedly improved. Unfortunately, a significant proportion of ELGANs will suffer from neurodevelopmental dysfunction. Cerebellar hemorrhagic injury (CHI) has been increasingly recognized in the ELGANs population and may contribute to neurologic dysfunction; however, the underlying mechanisms are poorly understood. To address this gap in knowledge, we developed a novel model of early isolated posterior fossa subarachnoid hemorrhage (SAH) in neonatal mice and investigated both acute and long-term effects. Following SAH on postnatal day 6 (P6), we found significant decreased levels of proliferation with the external granular layer (EGL), thinning of the EGL, decreased Purkinje cell (PC) density, and increased Bergmann glial (BG) fiber crossings at P8. At P42, CHI resulted in decreased PC density, decreased molecular layer interneuron (MLI) density, and increased BG fiber crossings. Results from both Rotarod and inverted screen assays did not demonstrate significant effects on motor strength or learning at P35-38. Treatment with the anti-inflammatory drug Ketoprofen did not significantly alter our findings after CHI, suggesting that treatment of neuro-inflammation does not provide significant neuroprotection post CHI. Further studies are required to fully elucidate the mechanisms through which CHI disrupts cerebellar developmental programming in order to develop therapeutic strategies for neuroprotection in ELGANs.

Neonatal Subarachnoid Hemorrhage Disrupts Multiple Aspects of Cerebellar Development.

Over the past decade, survival rates for extremely low gestational age neonates (ELGANs; <28 weeks gestation) has markedly improved. Unfortunately, a significant proportion of ELGANs will suffer from neurodevelopmental dysfunction. Cerebellar hemorrhagic injury (CHI) has been increasingly recognized in the ELGANs population and may contribute to neurologic dysfunction; however, the underlying mechanisms are poorly understood. To address this gap in knowledge, we developed a novel model of early isolated posterior fossa subarachnoid hemorrhage (SAH) in neonatal mice and investigated both acute and long-term effects. Following SAH on postnatal day 6 (P6), we found significant decreased levels of proliferation with the external granular layer (EGL), thinning of the EGL, decreased Purkinje cell (PC) density, and increased Bergmann glial (BG) fiber crossings at P8. At P42, CHI resulted in decreased PC density, decreased molecular layer interneuron (MLI) density, and increased BG fiber crossings. Results from both Rotarod and inverted screen assays did not demonstrate significant effects on motor strength or learning at P35-38. Treatment with the anti-inflammatory drug Ketoprofen did not significantly alter our findings after CHI, suggesting that treatment of neuro-inflammation does not provide significant neuroprotection post CHI. Further studies are required to fully elucidate the mechanisms through which CHI disrupts cerebellar developmental programming in order to develop therapeutic strategies for neuroprotection in ELGANs.

Imiquimod 5% cream as adjunctive therapy for primary, solitary, nodular nasal basal cell carcinomas before Mohs micrographic surgery: a randomized, double blind, vehicle-controlled study.

BACKGROUND: Imiquimod 5% cream is currently approved for treatment of nonfacial, superficial basal cell carcinomas (BCCs). Topical imiquimod might be a reasonable candidate for adjunctive therapy of nodular, nasal BCCs before Mohs surgery. OBJECTIVE: To observe the effectiveness of imiquimod 5% cream in reducing the number of Mohs stages, defect size, cost of Mohs surgery, and reconstruction. METHODS: Patients applied the study medication nightly for 6 weeks with occlusion followed by a 4-week rest period before Mohs surgery was performed. RESULTS: No differences were demonstrated in the number of Mohs stages, defect sizes, or costs between the two groups, possibly because of our small sample size. Only five of 12 patients (42%) in the treatment group were found histologically clear of tumor (complete responders). CONCLUSION: Imiquimod 5% cream was not helpful as an adjunctive treatment of nodular, nasal BCCs before Mohs surgery, but a larger study might show a benefit. Clearance of nodular, nasal BCCs treated with imiquimod prior to Mohs surgery was less than described in previous studies. Nasal BCCs may be more resistant to imiquimod treatment. Local inflammatory reactions limit imiquimod's usefulness in this setting. Histologic assessment of nasal BCCs treated with imiquimod is recommended.

Changing Epidemiology of Haemophilus influenzae in Children.

Haemophilus influenzae remains a common cause of illness in children throughout the world. Before the introduction of vaccination, H influenzae type b (Hib) disease was the leading cause of bacterial meningitis in young children and a frequent cause of pneumonia, epiglottitis, and septic arthritis. Clinicians should remain diligent in counseling parents on the dangers of Hib and provide vaccination starting at 2 months of age. The epidemiology of invasive H influenzae disease is shifting. It is imperative that clinicians recognize the changing epidemiology and antibiotic resistance patterns for H influenzae to optimize care in hospital and ambulatory settings.

Variability of surgical prophylaxis in penicillin-allergic children.

We retrospectively evaluated the effect of penicillin adverse drug reaction (ADR) labeling on surgical antibiotic prophylaxis. Cefazolin was administered in 86% of penicillin ADR-negative (-) and 28% penicillin ADR-positive (+) cases. Broad-spectrum antibiotic use was more common in ADR(+) cases and was more commonly associated with perioperative adverse drug events.

Periorbital cutaneous neonatal lupus.

The authors report 3 infant girls with a similar periorbital eruption. A 5-month-old infant girl presented with a 3-month history of a photosensitive facial eruption that had failed to respond to topical 1% hydrocortisone cream. The otherwise healthy infant was the product of a term pregnancy. The 25-year-old mother was in good health except for occasional arthralgias. She had 2 other healthy children. Physical examination revealed a well-developed, well-nourished infant with annular, polycyclic, erythematous scaly plaques involving the cheeks and periorbital region (Figure 1). Potassium hydroxide scraping from the face was negative for dermatophyte and yeast. Laboratory studies revealed normal complete blood cell count, normal liver function tests, strongly positive anti-SSA antibody at 118 units (>80 units, strongly positive), and a negative anti-SSB antibody. Cardiac examination and electrocardiogram (ECG) were also normal. Laboratory evaluation of the mother revealed a positive anti-SSA at 158 units and mild anemia, but anti-SSB, anti-Smith, U1RNP, and anti-Scl-70 antibodies were all negative. Within 4 months the facial eruption cleared completely with the use of desonide cream 0.05% applied twice a day and sun protection. A 6-month-old girl was referred for dermatitis that began on the trunk and face at about 2 months of age. Although the truncal component resolved after 2 months, the facial dermatitis persisted. The infant was in good health and was the first-born child. The mother was known to have Sjögren syndrome. Physical examination revealed the characteristic erythematous, annular, scaling, polycyclic plaques along the forehead, periorbital cheeks, and eyelids (Figure 2). Laboratory evaluation of the infant revealed normal complete blood cell count, liver function tests, and chemistry profile. Anti-SSA antibody was positive at >6 units (reference, <1 unit) and anti-SSB antibody was positive at 2.84 units (reference, <1 unit). U1RNP antibody was negative. Cardiac examination and ECG were normal. The skin abnormalities cleared completely in 6 weeks with the topical application of tacrolimus 0.03% ointment and sun protection. A 5-month-old girl presented with a 2-month history of a persistent facial dermatitis. The infant was in good health and was the product of a healthy first pregnancy and delivery. The mother was in good health. Physical examination of the infant revealed erythematous, annular, polycyclic periorbital patches (Figure 3). Laboratory evaluation revealed positive SSA and SSB antibodies (units unavailable) and normal complete blood cell count, liver function tests, and chemistry profile. Cardiac examination and ECG were normal. The mother's laboratory results were also positive for anti-SSA and anti-SSB antibodies (units unavailable). The infant's facial eruption resolved without specific treatment.

Extracorporeal Membrane Oxygenation-Associated Bloodstream Infections In Children.

This was a case-control study of extracorporeal membrane oxygenation cases spanning 5 years. Bloodstream infection (BSI) occurred in 12/207 subjects, with Candida spp.-4, Pseudomonas spp.-2 and Staphylococcal spp.-2 being predominant. No risk factors for BSI were identified. Exposure to broad spectrum antibiotics was common in both BSI and control patients. Prophylactic antimicrobials did not decrease the risk of BSI.

Fatal sporotrichosis.

Disseminated sporotrichosis is a serious fungal infection caused by the soil inhabitant Sporothrix schenckii. It is seen in immunocompromised patients, with a substantial number of recent cases involving patients with acquired immunodeficiency syndrome (AIDS). However, individuals with other conditions that affect the immune system also are at increased risk. We report a case of fatal disseminated sporotrichosis in a patient with liver disease and a diagnosis of a granulomatous condition presumed to be sarcoidosis; the patient was receiving systemic corticosteroid therapy. The various presentations of S schenckii infection, the risk of disseminated disease in immunocompromised hosts, and the importance of making accurate histologic diagnoses are reviewed.

Disseminated extragenital bullous lichen sclerosus.

Lichen sclerosus commonly affects the genitalia of post-menopausal women. We describe a woman with painful, disseminated, bullous, extragenital lichen sclerosus that responded to oral acitretin and topical calcitriol and triamcinolone.