2 citations
,
December 2008 in “Clinical and Experimental Dermatology” This case report describes a 10-year-old girl with a cosmetically concerning forehead lesion and a history of right frontal headaches, featuring a small palpable and pulsatile erythematous lesion with associated macular erythema.
May 2015 in “European Journal of Paediatric Neurology” This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.
11 citations
,
May 1998 in “Child's nervous system” This case report describes a 5-day-old male infant with a constellation of symptoms, including leptomeningeal angiomatosis, hair follicle nevus, and congenital alopecia, potentially representing a novel neurocutaneous syndrome.
17 citations
,
January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where neurogenic bladder dysfunction developed, attributed to demyelinating lesions in the patient's peripheral nerves, spinal cord, and cerebral white matter.
1 citations
,
September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.