Sotirios T. Keros

OVERVIEW: What every practitioner needs to know Are you sure your patient has hypomelanosis of Ito? What are the typical findings for this disease? Hypomelanois of Ito (HI), also known as pigmentary mosaicism of the Ito type (and formerly known as incontinentia pigmenti [IP]achromians and IP type 1) is a disorder that primarily involves the…

OVERVIEW: What every practitioner needs to know Are you sure your patient has neurofibromatosis type 2? What are the typical findings for this disease? Neurofibromatosis Type 2 (NF2) is a relatively rare autosomal dominant disorder with an incidence of approximately 1 in 33,000 people. Half of cases are inherited and half are the result of…

OVERVIEW: What every practitioner needs to know Are you sure your patient has Sturge-Weber syndrome? What are the typical findings for this disease? Sturge-Weber Syndrome (SWS), also called encephalofacial angiomatosis, is a congenital neurocutaneous disorder characterized by: A ‘port-wine stain’, or cutaneous nevus flammeus, involving the upper face or forehead. The port-wine stain is usually…

OVERVIEW: What every practitioner needs to know Are you sure your patient has neurofibromatosis type 1? What are the typical findings for this disease? Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that affects approximately 1 in 3,500 people and may be inherited or arise spontaneously. It is caused by a mutation…

OVERVIEW: What every practitioner needs to know Are you sure your patient has Klippel-Trenaunay-Weber syndrome? What are the typical findings for this disease? Klippel-Trenaunay-Weber (KTW) syndrome is the traditional eponym applied when a person has findings of Klippel-Trenaunay syndrome (KTS) together with an arteriovenous malformation (AVM) or arteriovenous fistula as is found in Parkes-Weber syndrome…

OVERVIEW: What every practitioner needs to know Von Hippel-Lindau (VHL) disease is a hereditary disease characterized by neoplasms affecting multiple organ systems, resulting from inactivating mutations of the VHL tumor suppressor gene. The various cancers of VHL typically appear in adulthood, although the initial manifestations can occur in adolescence. Are you sure your patient has…

OVERVIEW: What every practitioner needs to know Are you sure your patient has neurocutaneous melanosis? What are the typical findings for this disease? Neurocutaneous melanosis (NM) is a congenital disorder that includes melanocytic lesions of the skin and leptomeninges. Children with NM are at risk for developing malignant melanoma. Congenital nevi are benign melanocytic lesions…

OVERVIEW: What every practitioner needs to know Are you sure your patient has incontinentia pigmenti? What are the typical findings for this disease? Incontinentia pigmenti (IP) is an X-linked dominant disorder named for its distinctive skin findings, which are present late in the disease and are caused by a mutation in the gene for nuclear…