Work

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis

Year: 2026

Type: article

Abstract: Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia classically associated with carpal and tarsal osteolysis. Its presentation is highly variable, ranging from subtle musculoskeletal deformities to progressive bone loss and renal involvement. We report a nine-year-old female who presented with progressive ankle pain, cavovarus foot deformity, and gait disturbance. Initial radiographs demonstrated osteopenia and bilateral pes cavus without frank osteolysis. Genetic testing identified a pathogenic MAFB variant, confirming the diagnosis of MCTO. This case highlights the broad clinical and radiologic spectrum of MCTO, in which early or atypical presentations may have subtle, nondiagnostic imaging findings. Recognizing these early features can raise clinical suspicion and prompt genetic evaluation, helping to avoid misdiagnosis and unnecessary interventions. Awareness of the broad spectrum of clinical and radiographic findings is essential for timely diagnosis and appropriate management.

Source: Cureus

DOI: 10.7759/cureus.100954

Authors: Daniel Kim, Marty McGraw, Jennifer Kucera, Tushar Chandra, Manish Bajaj

Institution: Nemours Children's Clinic

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7118932274