Lymphangioma circumscriptum (LC) is a rare congenital proliferation of the lymphatic vessels characterized by clusters of thin-walled translucent vesicles, often called “frog spawn,” within a specific area. The exact cause of LC is unknown, but it can be present at birth or develop due to damage to lymphatic vessels from various causes. Symptoms may include intermittent swelling, hemorrhage, and lymph leakage, and early evaluation is essential to prevent potential complications such as infection. Fractional CO2 ablation laser therapy offers excellent functional and cosmetic results.

This is a case of a 32-year-old Filipino female patient with a 30-year history of multiple grouped translucent to hemorrhagic vesicles forming warty-like growths on the right axillary area, gradually extending to the arm and scapular area. Histopathological findings of dilated lymphatic channels in the papillary dermis lined by endothelial cells confirmed the diagnosis of Lymphangioma circumscriptum. The patient underwent a series of fractional carbon dioxide laser ablation for treatment. Clinical and subjective improvement of lesions were noted and the patient was satisfied with the outcome.

Lymphangioma circumscriptum remains challenging to treat, given its rarity and significant tendency for recurrence regardless of the treatment modality. In this case, fractional carbon dioxide laser ablation was utilized to manage Lymphangioma circumscriptum (LC), which resulted in satisfactory cosmetic improvement and lasting symptom relief.

Human ; Female ; Adult: 25-44 Yrs Old ; Congenital ; Lymphangioma

Epidermal nevus syndromes (ENS) are a group of complex disorders characterized by the presence of epidermal hamartomas in association with extracutaneous manifestations involving numerous organ systems. The diseases included within the spectrum of ENS are quite rare and specific molecular defects have been elucidated in only a few cases. An epidermal nevus syndrome with a mutation of the ZMYM2 gene has not been reported to the best of our knowledge.

This is a case of a 17-year-old female who presented at birth with prominent skeletal deformities and multiple erythematous verrucous papules and plaques in a blaschkoid distribution on the back and extremities, increasing in size and number as the patient grew. The patient was also noted to have delayed gross motor and speech milestones as well as marked mixed hearing loss on both ears. Histologic findings of the skin lesions were consistent with Verrucous Epidermal Nevus. Further imaging workups revealed the presence of bilateral diminutive kidneys. Whole exome sequencing by orthogonal method (Sanger sequencing) was performed revealing a likely pathogenic variant of the ZMYM2 gene, a gene which as of writing, has not been associated with any epidermal nevus syndrome.

We provide the first evidence of the possibility of involvement of the gene ZMYM2 in ENS. Considering the detected variant does not fully explain the patient’s phenotype, proceeding to genome sequencing and performing targeted testing by next generation sequencing on the affected tissue to assess the mosaicism of the detected variant is highly considered.

Human ; Female ; Adolescent: 13-18 Yrs Old