Becker naevus syndrome is a rare epidermal naevus syndrome defined by the co-occurrence of a Becker naevus with various cutaneous, muscular and skeletal anomalies. In the majority of cases, abnormalities exclusively consist of ipsilateral hypoplasia of the breast, areola and/or nipple in addition to the naevus. Here, we report on a 42-year-old woman with an extensive Becker naevus reaching from...

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, g...

Sir, We describe here the case of a man aged 65-years at our first examination with non-epidermolytic epidermal naevus of a soft, papillomatous type covering large areas of the left side of his body and scalp. He reported bilateral hearing loss and earlier frequent mastoiditis. He was of short stature and had had dyspnoea since childhood affecting his sporting activities, reduced touch sensatio...

DEAR EDITOR, GNA11 and GNAQ are highly homologous genes encoding different Ga subunits of heterotrimeric G-proteins. We recently described postzygotic activating mutations in GNA11 or GNAQ as causes of phakomatosis pigmentovascularis (PPV), and GNAQ mosaicism as a cause of extensive dermal melanocytosis (EDM). GNAQ mosaicism has previously been found to cause Sturge–Weber syndrome (SWS) and iso...

The authors present a case of linear nevus sebaceous syndrome (LNSS) with atrophy of bilateral frontotemporal areas of the brain, left cerebellum and hippocampus, and bilateral uncal dysplasia demonstrated by magnetic resonance imaging (MRI). Magnetic resonance angiography revealed bilateral internal carotid artery hypoplasia with absence of flow in the anterior and middle cerebral arteries. Tc...

Mammary gland is composed of branched epithelial structure embedded within a complex stroma formed by several stromal cell types, including fibroblasts, and extracellular matrix (ECM). Development of mammary gland is tightly regulated by bidirectional epithelial-stromal interactions that include paracrine signaling, ECM remodeling and mechanosensing. Importantly, these interactions play crucial...

Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection o...

Nevus comedonicus is an uncommon skin abnormality characterized by an aggregation of dilated follicular orifices filled with keratinous material. Nevus comedonicus is occasionally complicated with other conditions including cataracts, skeletal defects, central nervous system abnormalities or other extra-cutaneous diseases (nevus comedonicus syndrome). Although most cases of nevus comedonicus oc...

The case of a left handed girl aged 18 years suffering from the "epidermal maevus syndrome" is described. She presented with dysphasia, transient left hemiparesis, and sensory symptoms due to an occlusion of the right internal carotid artery. Arterial occlusion, abnormal retinal vessels, and Raynaud's phenomenon have not been previously documented. The neurological complications of this syndrom...

Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is ...