{"id":1317,"date":"2019-08-20T16:30:06","date_gmt":"2019-08-20T16:30:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1317"},"modified":"2026-02-24T00:33:08","modified_gmt":"2026-02-24T00:33:08","slug":"metaphyseal-dysplasia-without-hypotrichosis-can-present-with-late-onset-extraskeletal-manifestations","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/metaphyseal-dysplasia-without-hypotrichosis-can-present-with-late-onset-extraskeletal-manifestations\/","title":{"rendered":"\u2018Metaphyseal dysplasia without hypotrichosis\u2019 can present with late-onset extraskeletal manifestations (Contributed by Dr Svetlana Vakkilainen)"},"content":{"rendered":"

Changes in the\u00a0RMRP<\/em>\u00a0gene result in rare skeletal disorders: metaphyseal dysplasia without hypotrichosis (MDWH) and cartilage-hair hypoplasia (CHH). We hypothesized that MDWH may, similar to CHH, associate with immune deficiency and cancer. We collected data for 80 patients with\u00a0RMRP<\/em> mutations followed for over 30 years, and among them we identified 10 patients with features consistent with MDWH during pre-school age. Eight of these patients developed cancer or significant immunodeficiency during follow-up. We concluded that MDWH can present with severe late-onset immunodeficiency features in addition to skeletal changes and thus should be re-classified and managed as CHH. (https:\/\/jmg.bmj.com\/content\/early\/2019\/08\/14\/jmedgenet-2019-106131<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Changes in the\u00a0RMRP\u00a0gene result in rare skeletal disorders: metaphyseal dysplasia without hypotrichosis (MDWH) and cartilage-hair hypoplasia (CHH). We hypothesized that MDWH may, similar to CHH, associate with immune deficiency and cancer. We collected data for 80 patients with\u00a0RMRP mutations followed for over 30 years, and among them we identified 10 patients with features consistent with […]<\/p>\n

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