Question
Images are given for an Autosomal Dominant disorder.Regarding this pathology,which of the the following statement is true?
A. Associated with cataract.
B. Scoliosis.
C. Ash leaf spots.
D. Optic glioma.
Show Answer
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Correct Answer » C Explanation |
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Ans:C. Ash leaf spots.
The patient is suffering from Neurofibromatosis.
Image Shown:
First:Axillary Freckling
Second:Cafe u lait spot.
NEUROFIBROMATOSIS
Neurofibromatosis type 1 (NF1) and type 2 (NF2) are neurocutaneous disorders inherited as autosomal dominant genetic syndromes..
Neurofibromatosis 1..
- The clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses:
- Six or more café-au-lait spots or hyperpigmented macules =5 mm in diameter in prepubertal children and 15 mm postpubertal
- Axillary or inguinal freckles (>2 freckles)
- Two or more typical neurofibromas or one plexiform neurofibroma
Optic nerve glioma
- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist
- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis
- First-degree relative (eg, mother, father, sister, brother) with NF1.
Neurofibromatosis type 2
- It is a genetic disorder marked by the predisposition to develop a variety of tumors of the central and peripheral nervous systems. In contrast to neurofibromatosis type 1 (NF1), NF2 produces a paucity of cutaneous manifestations.
- Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios :
- Bilateral vestibular schwannomas
- A first degree relative with NF2 and Unilateral vestibular schwannoma or Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Unilateral vestibular schwannoma and Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Multiple meningiomas and Unilateral vestibular schwannoma or Any two of: schwannoma, glioma, neurofibroma, cataract
