Characterization of Paediatric Prurigo Nodularis: A Multicentre Retrospective, Observational Study

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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three mutations were found in 11 families of Arab and Bulgarian origin. The finding of several different mutations in a small geographic region implies that the H syndrome might be rather common. The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder

The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3

3 páginas, 2 figuras.H syndrome (OMIM 612391) is a recently described autosomal-recessive genodermatosis with systemic manifestations. The disease is characterized by the major clinical findings of progressive cutaneous hyperpigmentation and hypertrichosis located mainly over the lower limbs and lower abdomen, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height and hyperglycemia/diabetes mellitus [1] and [2]. The major histopathological findings include dermal infiltrate consisting mainly of histiocytes, later replaced by dermal and subcutaneous fibrosis [3]. Recently, we [2] and others [4] found that missense, nonsense, compound and deletion mutations in the SLC29A3 gene are responsible for this unique clinical picture. The SLC29A3 gene encodes the human equilibrative nucleoside transporter (hENT3), which mediates passive sodium-independent transport of nucleosides [5]. The exact cellular localization of hENT3, endosomal/lysosomal [6] or mitochondrial [7], and its function with relation to the H syndrome is still unclear. Here, we report two new cases of H syndrome, of Spanish and of Arab origin and describe two novel missense mutations.Authority for Research and Development, Hebrew University of Jerusalem (A.Z.), the Hadassah Medical Center physician scientist program and the Hadassah-Hebrew University Joint Research Fund (V.M.P.)Peer reviewe