Purpose: To determine the cancer risk and spectrum in patients with multilineage mosaic
RASopathies with pathogenic variants (PV) in HRAS or KRAS. Experimental Design: We …

BACKGROUND. Sporadic vascular malformations (VMs) are complex congenital anomalies
of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth …

Epidermal naevi are common cutaneous mosaic disorders that occur in 0.1–0.3% of live
births. They are subdivided into keratinocytic and organoid naevi, the latter including naevus …

Abstract Background Postzygotic KRAS, HRAS, NRAS, and FGFR1 mutations result in a
group of mosaic RASopathies characterized by related developmental anomalies in eye …

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are
rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis …

Oculoectodermal syndrome (OES) is a rare disease characterized by a combination of
congenital scalp lesions and ocular dermoids, with additional manifestations including non …

The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-
resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not …

Interventions: The patient received sclerotherapy with paicibanil (OK-432) injection for the
cyst. Outcomes: Following 1 year of treatment, the patient exhibited fewer seizures. The …

Trichoblastoma (TB) and syringocystadenoma papilliferum (SCAP) are both rare adnexal
skin lesions occurring either sporadically or as secondary neoplasms in sebaceous nevi. TB …

Background Cutaneous epidermal nevi are genotypically diverse mosaic disorders.
Pathogenic hotspot variants in HRAS, KRAS, and less frequently, NRAS and BRAF may …