Hyperpigmentation of the distal phalanx in healthy Caucasian neonates.

Transient alterations in pigmentation are frequently observed in black neonates, but to our knowledge, have not previously been reported in Caucasian infants. In 54 Caucasian newborns, we found at least mild periungual hyperpigmentation similar to the variation in coloration in the periungual region of many black newborns. This pigmentation should be added to the transient benign dermatoses of Caucasian infants.

[Neonatal toxic erythema: 3 atypical cases]. / Erythème toxique néonatal: trois observations atypiques.

UNLABELLED: Diagnosis of pustular dermatosis occurring during the first days of life is based on clinical findings. Erythema toxicum neonatorum (ETN) is the more frequent benign self limiting eruption in the newborn. CASE REPORTS: Three cases of ETN with localized pustules to the genitals and perineal area are described. COMMENT: When encountering a newborn with a localized pustulosis rash, it is important to separate benign condition as ETN from those that require prompt diagnosis and therapy. Atypical ETN and pustular dermatosis due to bacterial or viral infections or inflammatory diseases (e.g., eosinophilic pustulosis) can be differentiated by cytological and bacterial samples.

[Utilization of an equimolar mixture of oxygen-nitrous oxide in a general pediatric ward]. / Utilisation du mélange équimolaire oxygène-protoxyde d'azote dans un service de pédiatrie générale.

UNLABELLED: We report our experience of the utilization of the 50% oxygen-nitrous oxide mixture (nitrous oxide 50%) in our general pediatric ward after one year of use. PATIENTS AND METHODS: Between 1st April 1997 and 31st March 1998, children who had to undergo a painful procedure were proposed to inhale 50% nitrous oxide before the procedure. We evaluate pain, restlessness and adverse effects. RESULTS: The procedures (127 of them) were carried out in 90 children (61 boys). They were aged from 5 months to 15 years (mean: 5.7 years; median: 4.1 years). Indications were: lumbar puncture (n = 45), burning dressing (n = 29), venous cannulation (n = 12), minor surgery (n = 27), and miscellaneous (n = 14). Inhalation time was between 2 to 70 min (mean: 14.4 min; median: 11 min). Pain was absent or low in 106 cases (83.4%). Restlessness was absent or low in 100 cases (78.8%). Averse events were observed 12 times, but they were always minor and quickly reversible. CONCLUSION: Nitrous oxide (50%) can be used successfully in a general pediatric ward. Other studies are necessary to define the best conditions.

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

CONTEXT: Within the last two decades, heterozygous loss-of-function PAX8 mutations have been reported in patients with a wide degree of thyroid gland dysfunction and growth despite the presence of identical mutations. OBJECTIVES: To search for PAX8 mutations in a cohort of patients with congenital hypothyroidism (CH) and various types of thyroid gland defects. DESIGN: A cross-sectional study was conducted in a cohort of patients. SETTING: The French neonatal screening program was used for recruiting patients. PATIENTS: A total of 118 patients with CH, including 45 with familial and 73 with sporadic diseases, were included in this study. The thyroid gland was normal in 23 patients had hypoplasia, 25 had hemithyroid agenesis, 21 had athyreosis, and 21 had ectopy. RESULTS: We found four different PAX8 mutations (p.R31C, p.R31H, p.R108X, and p.I47T) in ten patients (six patients with CH and four family members), two with sporadic and eight with familial diseases. Imaging studies performed in the index cases showed ectopic thyroid gland (n=2), hypoplasia (n=2), eutopic lobar asymmetry (n=1), and eutopic gland compatible with dyshormonogenesis (n=1). The previously reported p.R31C and the novel p.I47T PAX8 mutations are devoid of activity. CONCLUSION: Four different PAX8 mutations were detected in six index patients with CH (ten total subjects). The p.R31C, p.R31H, and p.R108X mutations have been reported. The novel p.I47T PAX8 mutation presented loss of function leading to CH. Thyroid ectopy was observed in two cases of PAX8 (p.R31H) mutation, a finding that has not been reported previously. We observed a high inter-individual and intra-familial variability of the phenotype in PAX8 mutations, underlining that population genetic studies for CH should include patients with various clinical presentations.