Is an Association of Acro-osteolysis, Bone Fragility, and Enchondromatosis a Newfound Disease Caused by an Amplification of PTHLH? A Case Report

Overview

Journal Pediatr Rheumatol Online J

Publisher Biomed Central

Specialty Pediatrics

Date 2022 Jul 30

PMID 35908058

Authors

Stephane Echaubard

Celine Pebrel-Richard

Aurelie Chausset

Jean-Louis Kemeny

Etienne Merlin

Fanny Laffargue

Affiliations

Soon will be listed here.

Abstract

Background: Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a sign of local distress (e.g. of toxic origin), but is very often a sign of a constitutional or systemic acquired disorder.

Case Presentation: A 15-year-old girl was referred to a paediatric rheumatologist for recurrent pain in her fingertips. She presented a particular cross-sectional AO associated with the presence of intraosseous cysts and bone fragility with atypical fractures. Initial laboratory tests and radiological examination did not allow an etiological diagnosis. Genetic studies revealed a 12p11.22-p11.23 microduplication of 900 kb including the PTHLH (parathyroid hormone-like hormone) gene, which encodes for a hormone involved in the regulation of endochondral ossification and differentiation of chondrocytes, via its PTHLH receptor.

Conclusions: To date, 12p11.22-p11.23 duplications have been reported in five families with skeletal abnormalities, and in particular AO and enchondromatosis associated with bone fragility. This new observation, added to the other reported cases, suggests a close relationship between the presence of this microduplication and the skeletal abnormalities found in the patient. We suggest the descriptive name ABES (acro-osteolysis, bone fragility and enchondromatosis syndrome) to designate this disorder.

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