PACES_Clin Cons Flashcards
Which paraneoplastic syndrome is strongly associated with sun exposure and causes a heliotrope rash?
Dermatomyositis
Which autoimmune disease is characterized by photosensitivity and worsened lesions with sun exposure?
Lupus
Which autoimmune disease can be worsened by sun exposure but is not primarily triggered by it?
Psoriasis
Which autoimmune disease is rarely influenced by sun exposure?
Sarcoidosis
Which autoimmune disease can cause erythematous plaques with follicular plugging on the scalp?
Lupus (Discoid lupus)
Which autoimmune disease causes diffuse erythema and poikiloderma on the scalp?
Dermatomyositis
Which autoimmune disease presents with erythematous plaques and silvery scale on the scalp?
Psoriasis
Which autoimmune disease presents with non-pruritic papules or nodules on the scalp?
Sarcoidosis
Which autoimmune disease can lead to scarring alopecia?
Lupus (Discoid lupus)
Which autoimmune disease has thick silvery-white scaling?
Psoriasis
What is the inheritance pattern of Neurofibromatosis type 1?
Autosomal dominant
What gene is mutated in Neurofibromatosis type 1, and on which chromosome?
NF1 gene on chromosome 17
What are the characteristic skin changes in Neurofibromatosis type 1?
Café au lait spots, axillary/inguinal freckling
What are the common tumors associated with Neurofibromatosis type 1?
Multiple neurofibromas, optic glioma, pheochromocytoma
What are Lisch nodules, and in which condition are they found?
Pigmented iris hamartomas found in Neurofibromatosis type 1
What is the inheritance pattern of Neurofibromatosis type 2?
Autosomal dominant
What gene is mutated in Neurofibromatosis type 2, and on which chromosome?
NF2 gene on chromosome 22
What are the characteristic skin changes in Neurofibromatosis type 2?
Café au lait spots (nonspecific)
What are the common tumors associated with Neurofibromatosis type 2?
Bilateral vestibular schwannomas, meningiomas, ependymomas
What ocular feature is associated with Neurofibromatosis type 2?
Bilateral cataracts
What is the inheritance pattern of Tuberous Sclerosis?
Autosomal dominant
What genes are mutated in Tuberous Sclerosis, and on which chromosomes?
TSC1 on chromosome 9, TSC2 on chromosome 16
What are the characteristic skin changes in Tuberous Sclerosis?
Ash leaf spots, shagreen patch, adenoma sebaceum, ungual fibromas
What are the common tumors associated with Tuberous Sclerosis?
Giant cell astrocytoma, cardiac rhabdomyoma, renal angiomyolipoma
What neurological features are associated with Tuberous Sclerosis?
Infantile spasms, intellectual disability
What is the inheritance pattern of von Hippel-Lindau syndrome?
Autosomal dominant
What gene is mutated in von Hippel-Lindau syndrome, and on which chromosome?
VHL gene on chromosome 3
What are the characteristic skin changes in von Hippel-Lindau syndrome?
Uncommon
What are the common tumors associated with von Hippel-Lindau syndrome?
Retinal and CNS hemangioblastomas, bilateral renal cell carcinoma, pheochromocytoma
What additional features are associated with von Hippel-Lindau syndrome?
Renal cysts, pancreatic cysts
What is the inheritance pattern of Sturge-Weber syndrome?
Not inherited (sporadic)
What gene is mutated in Sturge-Weber syndrome?
Somatic mutation in GNAQ gene
What are the characteristic skin changes in Sturge-Weber syndrome?
Port-wine stain
What is the common tumor associated with Sturge-Weber syndrome?
Leptomeningeal angioma
What is the inheritance pattern of ataxia telangiectasia/
Autosomal recessive
What gene is mutated in ataxia telangiectasia?
ATM
What skin changes are seen in ataxia telangiectasia?
Spider angioma
