# A cutaneous nodule revealing Münchmeyer’s disease

## TL;DR

A 13-month-old toddler was diagnosed with Münchmeyer’s disease after presenting with skin nodules and foot deformities, highlighting the importance of early detection for this rare condition.

## Contribution

The case emphasizes early diagnosis of Münchmeyer’s disease to prevent misdiagnosis and complications.

## Key findings

- A cutaneous nodule and congenital foot deformities led to the diagnosis of Münchmeyer’s disease in a toddler.
- Genetic testing confirmed an ACVR1 gene mutation, characteristic of the disease.
- Early recognition is crucial to avoid misdiagnosis and manage this progressive condition.

## Abstract

Münchmeyer’s disease, also known as fibrodysplasia ossificans progressiva, is an extremely rare congenital condition affecting the musculoskeletal system, occurring in approximately 1 in 2 million people. We report the case of a 13-month-old male toddler who presented with dorsal cutaneous nodules. Examination revealed a firm, immobile nodule and congenital hallux valgus with microdactyly. Imaging studies showed ossifications of the subcutaneous tissues, and genetic testing confirmed a mutation in the ACVR1 gene, leading to the diagnosis of Münchmeyer’s disease. This disabling, progressive condition is characterized by extraskeletal ossification and congenital big toe malformations. The precocity of the diagnosis in this case is noteworthy, as Münchmeyer’s disease is often misdiagnosed, leading to significant delays and complications. Awareness of this rare condition is important for dermatologists to avoid missed or delayed diagnoses, as early recognition and appropriate management are crucial.