Inherited Disorders

Inherited Disorders is further divided into

Disorders of Keratinization

» What are the ichthyosiform dermatoses?
» What does “ichthyosis” mean?
» How common are the congenital ichthyoses? How are they inherited?
» What features help differentiate the most common inherited ichthyoses?
» What genetic defect is responsible for X-linked ichthyosis (XLI)?
» What additional phenotypes may patients with XLI contiguous gene syndromes exhibit?
» What important birth history may be obtained in patients with XLI?
» Name the hereditary syndromes presenting with ichthyosis as a component.What is a collodion baby?
» What is a harlequin fetus?
» Name several conditions associated with acquired ichthyosis.
» Are laboratory tests helpful in the diagnosis of ichthyoses?
» Is prenatal diagnosis of congenital ichthyosis possible?
» How is ichthyosis treated?
» What is Hailey-Hailey disease?
» How does Hailey-Hailey disease present?
» Do any factors exacerbate the skin changes of Hailey-Hailey?
» Which diseases may be confused with Hailey-Hailey disease?
» How is Hailey-Hailey disease treated?
» What is Darier’s disease?
» How is Darier’s disease diagnosed?
» Are there any nail or hair changes in Darier’s disease?
» Is Darier’s disease difficult to treat?
» What is a collodion baby?




Mechanobullous Disorders


 

Neurocutaneous Disorders

Neurofibromatosis
» What are the two main forms of neurofibromatosis?
» Outline the diagnostic criteria for NF-1.
» Where is the gene for NF-1 located? What protein does it encode?
» What is the earliest skin sign of NF-1?
» What is Crowe’s sign? When does it develop?
» When do peripheral neurofibromas appear in NF-1?
» What is a plexiform neurofibroma?
» What are Lisch nodules?
» What is the most common central nervous system (CNS) tumor occurring in NF-1?
» How common is intellectual impairment in NF-1?
» What are the most common skeletal abnormalities in NF-1?
» How frequently should patients with NF-1 be assessed? What should this assessment include?
» What are the diagnostic criteria for NF-2?
» Where is the gene for NF-2? What is the gene product?
» What are the most common presenting symptoms of NF-2?
» What are the skin signs of NF-2?
» What is the ocular sign of NF-2?

Tuberous Sclerosis
» Tuberous sclerosis is also known as epiloia. What does this term mean?
» What is the inheritance of tuberous sclerosis?
» Where are the genetic defects for tuberous sclerosis?
» What is the earliest skin sign of tuberous sclerosis?
» Adenoma sebaceum is a misnomer. What is the correct term for the facial lesions seen in tuberous sclerosis?
» What are Koenen’s tumors?
» What is a shagreen patch?
» What are tubers, and where do they occur?
» What signs of tuberous sclerosis may be revealed on funduscopic examination?
» Which cardiac abnormality is characteristic of tuberous sclerosis?
» Can renal involvement occur in tuberous sclerosis?
» What is the prognosis for patients with tuberous sclerosis?

Sturge-Weber Syndrome
» Name the two essential components of the Sturge-Weber syndrome.
» What is the inheritance of the Sturge-Weber syndrome?
» Where does the port wine stain most commonly occur in Sturge-Weber syndrome?
» What are the complications of leptomeningeal angiomatosis?
» When does epilepsy usually begin in the Sturge-Weber syndrome?
» Can the extent of neurologic involvement be predicted from the size of the facial port wine stain?
» What investigations confirm leptomeningeal angiomatosis?
» Do ocular complications occur in the Sturge-Weber syndrome?
» How can the facial port wine stain be treated?
» In what other neurocutaneous disorders do facial or occipitocervical port wine stains occur?
» What is the inheritance of ataxia-telangiectasia?
» What is the earliest clinical sign of ataxia-telangiectasia?
» Name the typical skin sign of ataxia-telangiectasia.
» What are the two most common causes of death in ataxia-telangiectasia?

Neurocutaneous Melanocytosis
» What are the essential features of neurocutaneous melanocytosis (NCM)?
» What type of congenital nevus is usually present?
» Is it always symptomatic?
» How is it diagnosed?