Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families. We report on a new case from a third independent family with the homozygous nonsense mutation, c.2659C>T, p.R887* in exon 15 of DSG1 (desmoglein 1 gene). This mutation led to mRNA decay and loss of expression of desmoglein 1. The clinical phenotype consisted of severe palmoplantar keratoderma, dermatitis and multiple allergies. In contrast to the previous cases, malabsorption, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed.

Eight of ten children use their cochlear implant consistently on a daily basis. Two children who were equipped with an implanted device at a later age tend to nonuse of the device. The evaluation of binaural hearing in small children is still difficult and methods have to be developed to allow objective assessment.

Purpose The purpose of this retrospective study was to investigate the outcome and critical age of cochlear implantation in congenital single-sided deafness (SSD). Methods 11 children with congenital SSD were implanted with a cochlear implant (CI). Auditory performance was measured through the results of speech discrimination, subjective assessment by the Categories of auditory performance (CAP) score, the Speech, Spatial and Qualities scale questionnaire (SSQ) and the German version of the IOI-HA [Internationales Inventar zur Evaluation von Hörgeräten (IIEH, version for CI)]. Results Long-term follow-up [median: 3 years and 5 months (3;5 years)] revealed that nine children use their CI (> 8 h/day) and two became nonusers. In children aged below 3;2 years at surgery, there was a substantial long-term increase in speech discrimination and subjective benefit. Children over 4;4 years of age at CI surgery improved partially in audiological/subjective measurements. Among children above 5 years, the SSQ score did not improve despite further slight improvement in speech discrimination long-term. Conclusion Our data suggest a critical age for CI surgery below 3 years in children with congenital SSD for successful hearing rehabilitation. It is mandatory to identify children with SSD as early as bilaterally deaf children.