Introduction
Diffuse capillary malformation with overgrowth (DCMO) is recognized as a distinct and rare vascular anomaly characterized by widespread capillary malformations (CMs) of the skin coupled with proportional, nonprogressive overgrowth of soft tissues and sometimes bone structures [1]. First proposed as an independent condition in 2013, DCMO presents diagnostic challenges due to its rarity and overlapping features with other vascular syndromes. While the exact etiology remains unclear, genetic mutations, specifically in the GNA11 gene, have been implicated in some cases. Clinically, DCMO manifests as reticulated erythematous patches across the skin, often with a distinct midline demarcation on the trunk, and may include prominent subcutaneous veins. Associated overgrowth in DCMO is proportionate and non-progressive, irrespective of the CM’s characteristics. Notably, extracutaneous features like syndactyly, sandal-gap deformities, or macrodactyly are observed in approximately 30% of DCMO patients [2]. This article aims to enhance understanding of Dcmo Diagnosis through a detailed case presentation, emphasizing the clinical features that differentiate DCMO from similar conditions.
Case Presentation
We present the case of a one-year-old male infant, with no significant medical history, who presented with persistent skin lesions since birth, unaccompanied by any symptoms. Born at full term via spontaneous vaginal delivery, the infant had no prenatal, perinatal, or postnatal complications. Systemic reviews were unremarkable, and there was no family history of similar conditions. Neurological and orthopedic pediatric consultations were conducted, revealing no neurological symptoms and normal head circumference. A thorough skin examination revealed widespread, non-scaly, reticulated erythematous patches distributed across his entire body, including homogenous erythematous patches on his abdominal wall (Figure 1). Musculoskeletal examination showed disproportionate limb circumference: the right calf and mid-thigh measured 13 cm and 20 cm, respectively, while the left calf and mid-thigh measured 11 cm and 18 cm, respectively. Both lower extremities were of equal length. Additionally, syndactyly of the right second and third toes was observed (Figure 1). The initial differential diagnosis included cutis marmorata telangiectatica congenita (CMTC), DCMO, and macrocephaly-capillary malformation (M-CM) syndrome. Based on the constellation of clinical findings, a DCMO diagnosis was established. The parents received reassurance, and the patient was scheduled for regular follow-ups with pediatric orthopedics to monitor growth asymmetry.
Diffuse non-scaly reticulated erythematous patches, syndactyly, and hypertrophy of the right lower limb indicative of DCMO diagnosis
Discussion
Diagnosing DCMO can be complex, especially when patients present with features such as varicosities or skeletal anomalies, as seen in our reported case. The capillary malformations in DCMO typically manifest as pale, diffuse reticulated erythema affecting multiple anatomical regions [1]. It is crucial to differentiate DCMO from Klippel-Trenaunay syndrome (KTS), which also presents with CM, soft tissue hypertrophy, varicosities, and skeletal anomalies. However, DCMO lacks the arteriovenous, lymphatic, or venous malformations characteristic of KTS [3]. Furthermore, the CM pattern in KTS is geographical, contrasting with the reticulated pattern observed in DCMO [4].
The differential diagnosis for limb overgrowth with CM and skeletal anomalies extends to KTS, CMTC, DCMO, and M-CM syndrome. While reticulated CM and syndactyly are features shared among DCMO, CMTC, and M-CM syndrome, soft tissue hypertrophy is primarily observed in DCMO and M-CM syndrome. In contrast, CMTC is typically associated with limb atrophy rather than hypertrophy [5-8]. CMTC is also characterized by reticulated skin stains, skin atrophy, and occasionally ulcerated lesions [8]. The absence of macrocephaly and neurological manifestations in our patient further supported the DCMO diagnosis over M-CM syndrome.
A retrospective analysis highlighted that approximately half of DCMO cases were initially misdiagnosed as KTS [1]. This underscores the importance of recognizing the distinct features of DCMO. The diagnostic criteria for KTS are increasingly refined to include a limb-specific triad of capillary-lymphatic-venous malformation (CLVM) without diffuse CM [1]. The subcutaneous veins in DCMO, although sometimes prominent, differ significantly from the persistent embryologic vessels and deep venous abnormalities seen in KTS [1]. Unlike KTS, DCMO is not associated with the risks of pulmonary embolism, cellulitis, or progressive soft tissue overgrowth. Accurate DCMO diagnosis is therefore critical for appropriate patient management and counseling.
Conclusion
DCMO represents a distinct vascular anomaly characterized by reticulated capillary patches and nonprogressive soft tissue hypertrophy. Its rarity and overlapping clinical features with other syndromes make DCMO diagnosis a considerable challenge. Increased awareness of DCMO among dermatologists and other specialists is essential, as effective management often requires a multidisciplinary approach involving pediatric orthopedics, neurology, and dermatology. Long-term follow-up for patients with DCMO is recommended to monitor for potential leg length discrepancies and ensure comprehensive care.
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