Neurofibromatosis true is all except –
Correct Answer: Autosomal recessive
Description: Ans. is i.e., Autosomal recessive o Neurofibromatosis comprises of two distinct disorders -Tuberous SclerosisAutosomal Dominant Neurocutaneous DisorderCutaneous FeaturesNeurological FeaturesOther Featureso Hvpopigmented macules/Ash-leaf spots# Seen in >90% of cases.# Are small, ovoid, scattered and variable in number.# Larger lesions are known as 'Ash-1eaf' spots as these may have jagged edges resembling a 'leaf.o Shagreen Spots# Roughened, raised, leathery lesions with an orange peel consistency.o Adenoma Seacium# Facial skin hamartoma that develops in early childhood (~ 4-6 years of age).# Appears as tiny red nodules over nose and cheeks resembling aene.o FaeialAngiofibromas/Ungual fibromas# Facial angiofibromas may seen ungula fibromas are more common in toes.o Cafe-an-lait spots# These may be seen occasionallyo Seizures# Seizrues are the most common presenting symptoms.# Infantile spasms may be ike presenting feature during infancy.o Mental Retardation# Mental Retardation occurs inupto 50% of patients refered io tertiary care.# Patients with seizures are more prone to mental retardation.o Renal Lesions# Renal cysts or angiomyolipomas may occur ( Hematuria/obstructions)o Cardiac Lesions# Rhabdomyomas of the heart may occur.o Pulmonary Lesionso Lymphagiomyomatosis is the classical pulmonary lesion. Rarely cystic lung disease may occur.o Eye lesions# Retinal Hamartomas may occur.o Skeletal Lesions# Cystic rarefaction of the bones or the fingers of toes.o Neurofibromatosis comprises of two distinct disorders -Neurofibromatosis INeurofibromatosis IIo The genes for these are located on different chromosomes,o Both are inherited in an autosomal dominant pattern.o The classical form of the disease with multiple neuromas is called Neurofibromatosis I and is caused by a mutation of the gene neuroftbromin on chromosome 17.NeurofibromatosisOculoneurocutaneous syndrome characterized by multisystem involvement1Neurofibromatosis I (NF-1)Peripheral Neurofibromatosis(Von Recklinghausens syndrome)Neurofibromatosis 11 (NF-2)Central Neurofibromatosis(Bilateral Acoustic Neurofibromatosis)o Most prevalent type (90%)o Recognized to be related to abnormality of chromosomes 17 (NF-1 gene)o Transmitted as an Autosomal Dominant disorderDiagnostic Criteria for Nf1Diagnosed when any two of the following are present1. Six more cafe-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.2. Axillary or inguinal freckling.3. Two or more iris Lisch nodules.4. Two or more neurofibromas or one plexiform neurofibroma.5. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bone, with or without pseudoarthrosis.6. Optic gliomas.7. A first degree relative with NF-1 whose diagnosis was based on the aforementioned criteria.o Less prevalent type (10%) recognized to be related to abnormal itv of chromosome 22 (NF-2 gene). Transmitted as an Autosomal Dominant disorderDiagnostic Criteria for NflDiagnosed when any two of the following is present1. Bilateral eighth nerve masses consistent with acoustic neuromas as demonstrated by CT scanning or MRI.2. A parent, sibling, or child with NF-2 and either3. Unilateral eight nerv e mass or any two of the following -# Neurofibroma# Meningioma# Glioma# Sehwrannoma# Juvenile posterior subcapsular opacity
Category:
Pathology
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