Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

Carline E Tacke; Suzanne W J Terheggen-Lagro; Annemieke M Boot; Astrid S Plomp; Abeltje M Polstra; Rick R van Rijn; Peter A A Struijs; Henk van den Berg; Christiaan F Mooij

doi:10.1016/j.bonr.2021.101067

Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

Bone Rep. 2021 Apr 15:14:101067. doi: 10.1016/j.bonr.2021.101067. eCollection 2021 Jun.

Authors

Carline E Tacke¹, Suzanne W J Terheggen-Lagro², Annemieke M Boot³, Astrid S Plomp⁴, Abeltje M Polstra⁴, Rick R van Rijn⁵, Peter A A Struijs⁶, Henk van den Berg⁷, Christiaan F Mooij¹

Affiliations

¹ Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
² Department of Pediatric Pulmonology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
³ Department of Pediatric Endocrinology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
⁴ Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
⁵ Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
⁶ Department of Orthopedic Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
⁷ Department of Pediatric Oncology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

Abstract

Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on chromosome 12p11.22 including the PTHLH gene. The boy has multiple skeletal abnormalities including chondrodysplasia, lesions radiographically resembling enchondromas and posterior rib deformities leading to a severe chest deformity. Severe pulmonary symptoms were thought to be caused by limited mobility and secondary sputum evacuation problems due to the chest deformity. Imaging studies during follow-up revealed progression of the number of skeletal lesions over time. This case extends the phenotypic spectrum associated with copy number variation of PTHLH.

Keywords: AP, anteroposterior; CT, computed tomography; Chondrodysplasia; DEXA, dual-energy X-ray absorptiometry; Enchondroma; IHH, Indian hedgehog; PA, posteroanterior; PTHLH; PTHLH, parathyroid hormone-like hormone; PTHrP, parathyroid hormone related peptide; Parathyroid hormone-like hormone; SDS, standard deviation score.

Publication types

Case Reports