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Background DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated. Methods We ascertained six unrelated DAVID syndrome families. We performed whole exome and traditional Sanger sequencing to search for causal genes. Lym1 mice were examined for endocrine developmental anomalies. Results Mutations in the NFKB2 gene were identified in three of our families through whole exome sequencing, and in a fourth by direct Sanger sequencing. De novo origin of the mutations could be demonstrated in three of the families. All mutations lie near the C-terminus of the protein-coding region, near signals required for processing of NFΚB2 protein by the alternative pathway. Two of the probands had anatomical pituitary anomalies, and one had growth and thyroid hormone as well as ACTH deficiency; these findings have not been previously reported. Two children of one of the probands carried the mutation and have to date exhibited only an immune phenotype. No mutations were found near the C-terminus of NFKB2 in the remaining two probands; whole exome sequencing has been performed for one of these. Lym1 mice, carrying a similar Nfkb2 C-terminal mutation, showed normal pituitary anatomy and expression of proopiomelanocortin (POMC). Conclusions We confirm previous findings that mutations near the C-terminus of NFKB2 cause combined endocrine and immunodeficiencies. De novo status of the mutations was confirmed in all cases for which both parents were available. The mutations are consistent with a dominant gain-of-function effect, generating an unprocessed NFKB2 super-repressor protein. We expand the potential phenotype of such NFKB2 mutations to include additional pituitary hormone deficiencies as well as anatomical pituitary anomalies. The lack of an observable endocrine phenotype in Lym1 mice suggests that the endocrine component of DAVID syndrome is either not due to a direct role of NFKB pathways on pituitary development, or else that human and mouse pituitary development differ in its requirements for NFKB pathway function. Electronic supplementary material The online version of this article (doi:10.1186/s12881-014-0139-9) contains supplementary material, which is available to authorized users.

International audience; The use of reusable diapers, often made of cotton and bamboo material, is becoming more widespread in France with the "eco" fashion, as they are considered more natural, ecologic and economic. We report 5 cases of papulonodular lesions in convex skin areas associated with the use of these diapers in infants. One case was typical Sevestre and Jacquet erosive dermatitis. The 4 others presented skin-coloured umbilicated papules or nodules with slight or no erythema and could be considered early-stage Sevestre and Jacquet erosive dermatitis, granuloma gluteale (1 case) or pseudo-verrucous papules. These 3 diagnoses probably belong to the same disease spectrum, proposed as "irritant napkin papulonodules". Napkin lesions occurred subsequent to 1) in all cases, use of reusable diapers, which are probably less absorbent than disposable diapers; 2) in 2 cases, insufficient food, which was responsible for lack of weight gain and delayed healing; and 3) in 1 case, diarrhea, which worsened the moisture. We alert physicians to possible papulonodular napkin dermatitis in infants wearing reusable diapers.

To describe the features of Frey syndrome (auriculotemporal nerve dysfunction with gustatory flushing) in childhood.A multicenter, retrospective, descriptive observational national case series study was conducted with the help of French academic societies. Diagnostic criteria were based on clinical history, and sometimes also on photographs or provocation tests.Forty-eight cases were identified, with 2 subtypes: 35 unilateral and 13 bilateral. Associated sweating was reported in only 10% of cases. Diagnosis was made in only 20% of children at the first consultation and inappropriate dietary restriction was prescribed for 21%. Instrumented vaginal delivery was significantly associated with unilateral forms (OR [unilateral vs bilateral] = 29; 95% CI 3.99-311.58; P .001). The outcome was favorable overall with 57% regression, 20% recovery, and only 23% persistence of initial symptoms. Regression was more frequent in unilateral forms (OR = 6.60; 95% CI 1.23-44.04; P = .016), observed in 69% of unilateral forms at a median age of 27 (24-48) months. Recovery predominated in bilateral forms (OR = 0.05; 95% CI 0-0.38; P = .001), observed in 58% of bilateral cases at a median age of 8 (7-9) months.Frey syndrome in childhood is a rare but benign condition with mild symptoms and a favorable outcome in most cases. Unilateral forms are mostly associated with instrumented delivery. Pediatricians should be familiar with this disorder in order to avoid misdiagnosis, mainly as food allergy, and unnecessary referrals and tests.