complete notes on Neurocutaneous syndromes - miracoli

[ArchivalUser]

If >10 people are interested on Neurocutaneous syndromes i will post it, cuz it is time consuming to type stuff that no one would be interested.

[ArchivalUser]

I’d love to read it! thank you for your time and share material with us, I know posting can be time consuming.

[ArchivalUser]

i am interested,please share it
thanks

[ArchivalUser]

Yes! Thanks

[ArchivalUser]

Very high yield, looking forward to it

[ArchivalUser]

Miracoli: Whether 10 or less are interested, I would like to thank you for offering and for taking the time to post. It is very kind of you. God bless you

[ArchivalUser]

HY points----->

TUBEROUS SCLEROSIS

MAJOR FEATURES:

Facial angiofibromas or forehead plaque.

Nontraumatic ungual or periungual fibromas.

Hypomelanotic macules (>3).

Shagreen patch (connective tissue nevus).

Multiple retinal nodular hamartomas.

Cortical tuber.

Subependymal nodule.

Subependymal giant cell astrocytoma.

Cardiac rhabdomyoma, (single or multiple).

Lymphangiomyomatosis.

Renal angiomyolipoma.





STURGE - WEBER SX.

Facial nevus, -Port-wine stain-.

Seizures, refractory seizures (Seizures result from cortical irritability caused by cerebral angioma, through mechanisms of hypoxia, ischemia, and gliosis.).

Developmental delay and mental retardation.

Ocular manifestations, (glaucoma and blindness).

Buphthalmos (hydrophthalmia).






NEUROFIBROMATOSIS


Diagnostic criteria for NF-1
(The diagnostic criteria are met if 2 or more of the features listed are present.)

Six or more caf au lait macules larger than 5 mm in greatest diameter in prepubertal individuals
and those larger than 15 mm in greatest diameter in postpubertal individuals.

Two or more neurofibromas of any type or 1 plexiform neurofibroma.

Freckling in the axillary or inguinal regions.

Optic glioma.

Two or more Lisch nodules (iris hamartomas).

A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis.

A first-degree relative with NF-1 according to the above criteria.




Diagnosis criteria for NF-2
(The criteria are met if condition 1 or 2 is present.)

Bilateral masses of the eighth cranial nerve seen with appropriate imaging techniques (eg, CT, MRI)
A first-degree relative with NF-2 and either
(a) a unilateral mass of the eighth cranial nerve or
(b) 2 of the following: neurofibroma, meningioma, glioma,b|l schwannoma, or juvenile posterior subcapsular opacity.

Q.name the chromosome no. containing the gene for TS,NF-1,NF-2??

[ArchivalUser]

Thanks Miracoli and lots of thanks Glaucoma

[ArchivalUser]

NF1 --> Chr no. 17 (von recklinghausen has 17 letters)
NF2 ---> Chr no. 22 ( Think type 2 has two 2's = 22 )