What is Osteoma Cutis?

Osteoma cutis is a rare disease when bone develops within the skin.

There are different forms of osteoma cutis. According to William D. James MD, in Andrews’ Diseases of Skin, 2020:

Bone formation within the skin may be primary, occurring in cases with no preceding lesion; metastatic, in cases associated with abnormalities of parathyroid metabolism; or dystrophic, in which ossification occurs in preexisting lesion or inflammatory process.

William D. James MD, 2020

For Maximus, we know he has primary osteoma cutis. A few disorders linked to primary osteoma cutis involve having a GNAS mutation. Many of these conditions have already been ruled out for Maximus, as he does not present with drastic metabolic changes or other physical features.

It more commonly occurs with an injury, but that is not Maximus’s case. Oftentimes, there are a handful of spots located throughout the body. For Maximus, he has upwards of 40+ lesions spread from head to toe. Only about five he has had since birth (we originally thought they were birthmarks). Larger, harder lesions began appearing when he was 3 months old.

The lesions are said to be tender or painful. At this point, we do not believe the areas are causing any pain to him. His skin, even if we could discover a treatment, would be permanently damaged from this disease. It will not go away on its own and is expected to develop into something more rare called progressive osseous heteoroplasia (POH).

Maximus was officially diagnosed with osteoma cutis on March 25, 2022. Since then, more lesions have developed, others have become more pronounced, and no treatment has been developed or started.

Sources

DermNet NZ

ScienceDirect

National Library of Medicine

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