Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

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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 193x737acg01 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 tiny gum squares 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.