The phalangeal microgeodic syndrome in childhood: awareness leads to diagnosis

Abstract

Phalangeal microgeodic syndrome is a rare but benign disorder that affects the fingers of children. This condition was originally described by Maroteaux in 1970. We present two patients who consulted a pediatrician with swelling of the digits of one or both hands. Both lacked additional clinical or biochemical signs. Radiological examination showed multiple small osteolytic areas with sclerotic lining and periostal reactions in the phalanges of the affected hands. These cases were treated with a conservative approach and spontaneous resolution occurred within weeks to months. As it is a rare disease, the clinical presentation can be misinterpreted as an infectious, inflammatory, or even malignant condition and prompts clinicians to expand the diagnostic process with radiological or nuclear imaging and even biopsy. In these patients, a timely clinical diagnosis by a physician who is aware of the disease prevented further investigations.

Microgeodic Disease Affecting the Fingers and Toes in Childhood: A Case Report

“…Differential diagnoses include osteomyelitis, tuberculosis, sarcoidosis, syphilis, parathyroid dysfunction, and complex regional pain syndrome [3, 11, 14]. In relation to this case, blood testing conducted at the time of first consultation showed negative results for osteomyelitis, syphilis, and parathyroid dysfunction.…”

“…However, in cases where the condition persists, biopsy may be necessary to definitively exclude infection. A timely clinical diagnosis by a physician who is aware of the disease could prevent the need for invasive investigations [14]. Generally, microgeodic disease can be differentiated from tuberculous osteitis in several ways [8, 13, 15, 16].…”

Microgeodic disease in an infant

“…These cases, such as a recent case presented by Ellatif et al , frequently describe phalangeal swelling and discolouration associated with pain as the presenting complaints. This differs from the majority of case reports in children and infants, who are often asymptomatic or have mild pain and tenderness on examination 5 6 8…”

“…If misdiagnosed, potential complications such as fractures are not recognised and the patient may be exposed to unnecessary or invasive investigations and ineffective therapies 1 3. Recognition of this condition and its pathogenesis will help to improve management of similar cases and avoid complications or unnecessary treatment 3 6 7…”

Acroosteolysis presenting with brachyonychia following exposure to cold

“…Interestingly, in phalangeal microgeodic syndrome; which usually presents with frostbite like symptoms, swelling and redness of the phalanges of one or both hands occurs after exposure to cold, such as in winter time in Japan and Europe when the ambient temperature often drops below freezing point . The radiological findings in phalangeal microgeodic syndrome are compatible with acroosteolysis and it has been hypothesized that the syndrome might be caused by a cold‐induced disturbance of the peripheral circulation …”