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In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.

Langerhans cell histiocytosis is a rare group of disorders without a well-understood etiology. Known formerly as histiocytosis X, the disease has a wide spectrum of clinical presentations, including eosinophilic granuloma (solitary bone lesion), diabetes insipidus, and exophthalmos. It is also known by several eponyms, including Hand-Schüller-Christian disease when it manifests as a triad of cranial bone lesions and Letterer-Siwe disease when it is found in infantile patients with severely disseminated disease. Children aged 5 to 15 years are most commonly affected. Many of these patients initially present to orthopaedic surgeons, and misdiagnosis is frequent. To accurately diagnosis and treat these patients, the orthopaedic surgeon must be familiar with the clinical manifestations and pathophysiology of the disease as well as the treatment guidelines and outcomes for Langerhans cell histiocytosis.