one of the few conditions associated with skin ulceration in the neonatal period is aplasia cutis congenita (acc). acc or congenital absence of the skin is considered an uncommon anomaly. this malformation commonly appears on the scalp as a solitary lesion, though it can be seen in other surfaces of the body such as the trunk, limbs and face. acc can be associated with other physical anomalies ...

Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...

sjogren-larsson syndrome (sls) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. we report a case of sjogren-larsson syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and mri findings such as seen in multiple sclerosis (ms). so this rare syndrome can be another differen...

Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathwa...

BACKGROUND Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome. CASE PRESENTATION A Chinese girl presented with extensive po...

The neurofibromatoses are members of the group of neurocutaneous disorders which also include tuberous sclerosis, neurocutaneous melanosis, hypomelanosis of Ito, incontinentia pigmenti, Sturge-Weber syndrome and von Hippel-Lindau disease. Collectively, these conditions have also been referred to as "phakomatoses," a term is derived from the Greek phakos, meaning a lentil or birthmark. All but S...