Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia

Frontiers in Pediatrics

article

Antonio José Justicia-Grande¹  María José Fernández-Seara³  Antonio Salas¹  Federico Martinón-Torres¹  Jose Gómez-Ríal¹  Irene Rivero-Calle¹  Sara Pischedda¹  María José Curras-Tuala¹  Alberto Gómez-Carballa¹  Miriam Cebey-López¹  Jacobo Pardo-Seco¹  Roberto Méndez-Gallart² 

[1] Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela;Physical Medicine and Rehabilitation Department, Hospital Clínico Universitario de Santiago de Compostela;Immunology Laboratory, Clinical Laboratory, Hospital Clínico Universitario Santiago de Compostela;Instituto de Ciencias Forenses, Universidade de Santiago de Compostela;GenPoB Research Group, Instituto de Investigaciones Sanitarias, Hospital Clínico Universitario de Santiago de Compostela;Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela

关键词: progressive osseous heteroplasia;    POH;    treatment;    genetic diseases;    monochorionic twins;   

DOI  :  10.3389/fped.2021.662669

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Progressive osseous heteroplasia (POH; OMIM 166350 ) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results.

【 授权许可】

CC BY