Genodermatoses Female Child with Dermoid Cyst Quiz

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Questions and Answers

In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?

  • Fibulin 5 gene
  • LEKT1 or 5 gene
  • Fibroblast growth factor gene
  • LMNA gene (correct)

What is the most common genetic defect associated with Legius syndrome?

  • Optic glioma gene
  • SPRED1 gene (correct)
  • Neurofibroma gene
  • Renal cell carcinoma gene

In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?

  • PXE gene (correct)
  • Steroid gene
  • Simvastatin gene
  • Aspirin gene

In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?

<p>Zero (A)</p> Signup and view all the answers

In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?

<p>Carney complex (A)</p> Signup and view all the answers

In a picture showing striated nails, what is the most likely mode of inheritance for this condition?

<p>Autosomal dominant (AD) (C)</p> Signup and view all the answers

What is the most likely mode of inheritance for Ichthyosis with low estradiol?

<p>Autosomal Recessive (AR) (B)</p> Signup and view all the answers

In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?

<p>Peutz-Jeghers Syndrome (C)</p> Signup and view all the answers

In Grover’s disease, what type of lesion is commonly observed?

<p>Popular Papulovesicular (A)</p> Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

<p>More specific ant subcapsular (B)</p> Signup and view all the answers

In a case of Hailey-Hailey disease, what is the characteristic histopathology?

<p>Acantholysis with dyskeratosis (A)</p> Signup and view all the answers

In the context of multiple basal cell carcinoma with milia, which syndrome would be most likely associated with this presentation?

<p>Gorlin Syndrome (D)</p> Signup and view all the answers

A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?

<p>Autosomal Dominant (AD) (D)</p> Signup and view all the answers

What type of keratin is typically associated with PPK (palmoplantar keratoderma)?

<p>K6 (A)</p> Signup and view all the answers

In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?

<p>LEKT1 or 5 gene (A)</p> Signup and view all the answers

In a female child with dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?

<p>Cockayne gene (AR) (A)</p> Signup and view all the answers

What is the most likely cause of a defect in a female child with a picture that looks old?

<p>Progeria (AD) (B)</p> Signup and view all the answers

In the context of a small lesion in a child's head as aplasia cutis, what is the most likely cause of this defect?

<p>Brain ectopic tissue/neural tube defect (A)</p> Signup and view all the answers

In a patient with focal PPK and mucous patches on the mouth and tongue, what is the most likely mode of inheritance for this condition?

<p>X-linked dominant (XLD) (A)</p> Signup and view all the answers

In the context of cancer colon in a father and 2 sons, what is the likelihood of the normal son inheriting the cancer?

<p>Zero (B)</p> Signup and view all the answers

In a picture showing AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?

<p>Tays syndrome (AR) (D)</p> Signup and view all the answers

What genetic defect is most likely causing multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?

<p>SPRED1 gene (C)</p> Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

<p>Posterior subcapsular cataract (B)</p> Signup and view all the answers

In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?

<p>Netherton syndrome (LEKT1 or 5 gene) (A)</p> Signup and view all the answers

If there is a lesion in a child's head as small as aplasia cutis, what is the most likely cause of this defect?

<p>Brain ectopic tissue/neural tube defect (A)</p> Signup and view all the answers

In a picture showing striated nails, what is the most likely mode of inheritance for this condition?

<p>Autosomal recessive (AR) (A)</p> Signup and view all the answers

In the context of a child with Ichthyosis since birth and mental retardation, which syndrome is most likely the cause?

<p>MEDNIK syndrome (B)</p> Signup and view all the answers

In a female child with dark pigmentation on the lip, and a family history of colon cancer, what percentage of transmission is there to her siblings?

<p>100% (A)</p> Signup and view all the answers

In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?

<p>None of the above (D)</p> Signup and view all the answers

A male patient, 44 years old, presents with dark red itchy lesions on his arms and buttocks. What is the likely cause?

<p>AIDS (B)</p> Signup and view all the answers

In a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?

<p>Liver (A)</p> Signup and view all the answers

In a female child with dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?

<p>NF1 (Neurofibromatosis type 1) (B)</p> Signup and view all the answers

In a patient with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?

<p>ABCC6 (PXE) (B)</p> Signup and view all the answers

A female child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, also has food allergies. What is the most likely diagnosis?

<p>Netherton syndrome (A)</p> Signup and view all the answers

In a male patient with hypotrichosis, atopy, and scaly skin, what are the chances that the NEXT sibling will be affected?

<p>25% (B)</p> Signup and view all the answers

In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the gene defect most likely responsible for this presentation?

<p>TBX6 (Spondylocostal dysostosis) (B)</p> Signup and view all the answers

A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?

<p>Autosomal dominant (D)</p> Signup and view all the answers

In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?

<p>50% (B)</p> Signup and view all the answers

What is the most likely gene defect responsible for the small lesion in a child's head known as aplasia cutis?

<p>Ectopic brain tissue or neural tube defect (D)</p> Signup and view all the answers

In a female child with a picture that looks old, which gene mutation is most likely responsible for the condition?

<p>LMNA gene mutation causing progeria (AD) (D)</p> Signup and view all the answers

In the context of Pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?

<p>Legius syndrome with SPRED1 gene mutation (C)</p> Signup and view all the answers

What is the mode of inheritance for Darrier disease, which is characterized by striated nails?

<p>Autosomal Dominant (AD) (B)</p> Signup and view all the answers

What is the likelihood of transmission of colon cancer to offspring if a father and 2 sons have the condition?

<p>25 percent (A)</p> Signup and view all the answers

Which gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?

<p>PXE gene mutation (B)</p> Signup and view all the answers

Which genetic defect is most likely associated with Legius syndrome?

<p>SPRED1 gene mutation (C)</p> Signup and view all the answers

In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?

<p>LMNA gene mutation causing progeria (AD) (B)</p> Signup and view all the answers

A female child with PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue most likely has what mode of inheritance for this condition?

<p>Autosomal Dominant (AD) (A)</p> Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

<p>Posterior subcapsular cataract (A)</p> Signup and view all the answers

What genetic defect is most likely responsible for scaly erythematous skin lesions and hair defects entering proximally?

<p>LEKT1 or 5 gene mutation (B)</p> Signup and view all the answers

What is the most likely mode of inheritance for MEDNIK syndrome?

<p>X-Linked Recessive (XLR) (A)</p> Signup and view all the answers

What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?

<p>Muir Torre syndrome (D)</p> Signup and view all the answers

In a child with atopy, developmental retardation, and ichthyosis, which syndrome is most likely the cause?

<p>Sjogren-Larsson syndrome (A)</p> Signup and view all the answers

What is the likely mode of inheritance for Gorlin syndrome associated with cafe au lait macules and lesions on the scapula?

<p>Autosomal Dominant (AD) (A)</p> Signup and view all the answers

What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?

<p>BRCA1 gene (A)</p> Signup and view all the answers

In a female child with bifid upper 3 ribs and hemivertebra in the upper 3, what is the most likely gene defect?

<p>PTCH1 gene (C)</p> Signup and view all the answers

A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?

<p>Autosomal Dominant (AD) (A)</p> Signup and view all the answers

What is the most likely mode of inheritance for ichthyosis with low estradiol?

<p>X-Linked Recessive (XLR) (B)</p> Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

<p>More specific ant subcapsular (B)</p> Signup and view all the answers

In a female child with a dermoid cyst, if the defect is found in the midline on MRI, which gene mutation is most likely responsible for the condition?

<p>LMNA gene (A)</p> Signup and view all the answers

In a female child with a dermoid cyst, if the defect is found in the lateral eyebrow on MRI, which gene mutation is most likely responsible for the condition?

<p>LEKT1 or 5 gene (B)</p> Signup and view all the answers

In a picture of an old-featured girl, which gene mutation is most likely responsible for the appearance?

<p>Progeria (LMNA) gene (D)</p> Signup and view all the answers

What genetic defect is most likely associated with Legius syndrome?

<p>SPRED1 gene (B)</p> Signup and view all the answers

In a child with multiple yellowish papules in the neck and axilla, as well as angoid streaks, what genetic defect is most likely causing these symptoms?

<p>LEKT1 or 5 gene (A)</p> Signup and view all the answers

In a family where the father and 2 sons have colon cancer, and another son is normal, what is the likelihood of the normal son inheriting the cancer?

<p>Zero percent (A)</p> Signup and view all the answers

In a picture showing lentigines with AR inheritance, which syndrome is most likely associated with this genetic pattern?

<p>Tay's syndrome (B)</p> Signup and view all the answers

In a picture showing striated nails, which mode of inheritance is most likely associated with this condition?

<p>Autosomal dominant (AD) (C)</p> Signup and view all the answers

In a child with a small lesion on the head known as aplasia cutis, what is the most likely cause of this defect?

<p>Brain ectopic tissue/neural tube defect (C)</p> Signup and view all the answers

What is the mode of inheritance for Darrier disease, which is characterized by striated nails?

<p>Autosomal dominant (AD) (D)</p> Signup and view all the answers

In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?

<p>LEKT1 or 5 gene (D)</p> Signup and view all the answers

Which syndrome is characterized by ichthyosis, low estradiol, and mental retardation?

<p>Sjogren-Larsson syndrome (B)</p> Signup and view all the answers

In the context of a picture showing a small girl with a yellow nodule on her scalp, what is another likely site for this lesion?

<p>Eye (C)</p> Signup and view all the answers

What is the most likely mode of inheritance for PPK (palmoplantar keratoderma) and mucous patches on the mouth and tongue?

<p>Autosomal dominant (AD) (A)</p> Signup and view all the answers

In the context of scaly erythematous skin lesions and hair defects entering proximally, what gene defect is most likely responsible for this condition?

<p>Fibulin 5 (D)</p> Signup and view all the answers

In Grover’s disease, what type of lesion is commonly observed?

<p>Papular (B)</p> Signup and view all the answers

What is the likely cause of a lesion on the nose presenting as SCC or keratoacanthoma, along with a mismatch repair gene?

<p>Muir-Torre syndrome (A)</p> Signup and view all the answers

In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?

<p>Telomere gene defect (C)</p> Signup and view all the answers

Which gene mutation is most likely responsible for the appearance of an old-featured girl in the picture?

<p>Fibulin 5 in cutis laxa (B)</p> Signup and view all the answers

If a lesion is small and present in the child's head as aplasia cutis, what is the likely cause of this defect?

<p>Brain ectopic tissue/neural tube defect (A)</p> Signup and view all the answers

In the context of a female child with dark pigmentation on the lip and a family history of colon cancer, what percentage of transmission is there to her siblings?

<p>Zero (B)</p> Signup and view all the answers

In a picture of AR inheritance with lentigines, which syndrome is most likely associated with this genetic pattern?

<p>Tays AR (Like TTD without photosensitivity and normal gonads) (B)</p> Signup and view all the answers

Which mode of inheritance is associated with Darrier disease, characterized by striated nails?

<p>AD (A)</p> Signup and view all the answers

In the context of pigmentation in all body but not in mucous membrane, which syndrome is characterized by this presentation?

<p>Legius syndrome (C)</p> Signup and view all the answers

What gene defect is most likely responsible for desmin- and smooth muscle-positive lesions associated with uterine bleeding in a female child?

<p>SPRED1 (D)</p> Signup and view all the answers

A patient presents with focal PPK, mucous patches on the mouth and tongue. What is the most likely mode of inheritance for this condition?

<p>(AR) Autosomal recessive (D)</p> Signup and view all the answers

In a male patient with dark pigmentation on his lip and a family history of colon cancer, what percentage of his brothers could potentially have the same lesion?

<p>Zero (A)</p> Signup and view all the answers

In the context of ichthyosis since birth and mental retardation, which syndrome is most likely the cause?

<p>MEDNIK syndrome (A)</p> Signup and view all the answers

What gene defect is most likely responsible for multiple basal cell carcinomas with milia?

<p>LMNA gene (B)</p> Signup and view all the answers

In a female child with uterine bleeding and a lesion positive for desmin and smooth muscle, which gene defect is most likely causing this presentation?

<p>SPRED1 (D)</p> Signup and view all the answers

A child presents with atopy, developmental retardation, and ichthyosis. What syndrome is the most likely cause of these symptoms?

<p>MEDNIK syndrome (C)</p> Signup and view all the answers

A patient presents with café au lait macules and lesions on the scapula. What is the most likely associated anomaly in this case?

<p>Gorlin syndrome (A)</p> Signup and view all the answers

In a patient with small yellow nodules on the scalp, what is another likely site for this lesion?

<p>Eye (B)</p> Signup and view all the answers

A girl has dark pigmentation on her lip, and her father and two sisters have a history of colon cancer. What percentage of transmission to her siblings is likely?

<p>100% (C)</p> Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

<p>More specific ant subcapsular (C)</p> Signup and view all the answers

A male patient, 44 years old, has dark red itchy lesions on his arms and buttocks. What is the likely cause of these lesions?

<p>AIDS (D)</p> Signup and view all the answers

In a female child with uterine bleeding, what gene defect is most likely causing this presentation?

<p>Desmin and smooth muscle gene defect (B)</p> Signup and view all the answers

What gene mutation is most likely responsible for multiple yellowish papules in the neck and axilla, as well as angoid streaks in a child?

<p>Fibulin 5 (B)</p> Signup and view all the answers

A child with hypotrichosis, atopy, and scaly skin has normal parents. What are the chances that the NEXT sibling will be affected?

<p>Zero (D)</p> Signup and view all the answers

In a female child with bifid upper 3 rib and hemivertebra in upper 3, what is the gene defect most likely responsible for this condition?

<p>Gorlin-Goltz syndrome /PTCH1 /AD Ch9 (D)</p> Signup and view all the answers

In a picture of nails hyperkeratotic with a history of father and daughter, what treatment is most appropriate?

<p>Topical steroid (B)</p> Signup and view all the answers

In a patient with axillary erosion and bad smell, what histopathology finding is most likely present if it's not Grover’s disease?

<p>Acantholysis without dyskeratosis (B)</p> Signup and view all the answers

Flashcards

Midline Dermoid Cyst Genetic Cause

Mutation in the LMNA gene.

Legius Syndrome Genetic Defect

Mutation in the SPRED1 gene.

Yellowish Papules and Angoid Streaks Genetic Cause

Mutation in the ABCC6 (PXE) gene.

Cancer Inheritance Likelihood

Zero likelihood. Cancer is not inherited in this scenario.

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AR inheritance with lentigines

Carney complex

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Striated Nails Inheritance

Autosomal Dominant (AD)

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Ichthyosis with Low Estradiol Inheritance

Autosomal Recessive (AR)

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Pigmentation sparing Mucous Membrane

Peutz-Jeghers Syndrome

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Grover’s Disease Lesion Type

Popular Papulovesicular

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Specific Cataract in Atopic Dermatitis

Posterior Subcapsular

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Hailey-Hailey Histopathology

Acantholysis with dyskeratosis

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Basal Cell Carcinoma + Milia Syndrome

Gorlin Syndrome

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Focal PPK Inheritance

Autosomal Dominant (AD)

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Keratin with Palmoplantar Keratoderma

K6

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Lateral Eyebrow Dermoid Cyst Genetic Cause

NF1 (Neurofibromatosis type 1)

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Defect Causing Premature Aging

LMNA gene mutation causing progeria (AD)

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Aplasia Cutis Cause

Brain ectopic tissue/neural tube defect

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Cancer with black spots

Dark pigmentation on the lips

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Yellowish Papules, Angoid Streaks Genetic Cause

ABCC6 (PXE)

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Hypotrichosis, Atopy, Scaly Skin Inheritance

25%

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Scaly erythematous skin and hair defects

LEKT1 or 5 gene mutation

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Transmission of colon cancer to offspring

25 percent

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Specific cataract type for Atopic Dermatitis

Posterior subcapsular cataract

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Scaly erythematous skin, hair defects

LEKT1 or 5 gene mutation

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Darrier Disease Inheritance

Autosomal Dominant (AD)

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