Genodermatoses Female Child with Dermoid Cyst Quiz

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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?

Zero Signup and view all the answers

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

Carney complex Signup and view all the answers

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

Autosomal dominant (AD) Signup and view all the answers

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

Autosomal Recessive (AR) 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?

Peutz-Jeghers Syndrome Signup and view all the answers

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

Popular Papulovesicular Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

More specific ant subcapsular Signup and view all the answers

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

Acantholysis with dyskeratosis 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?

Gorlin Syndrome 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?

Autosomal Dominant (AD) Signup and view all the answers

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

K6 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?

LEKT1 or 5 gene 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?

Cockayne gene (AR) 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?

Progeria (AD) 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?

Brain ectopic tissue/neural tube defect 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?

X-linked dominant (XLD) 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?

Zero Signup and view all the answers

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

Tays syndrome (AR) 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?

SPRED1 gene Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

Posterior subcapsular cataract 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?

Netherton syndrome (LEKT1 or 5 gene) 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?

Brain ectopic tissue/neural tube defect Signup and view all the answers

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

Autosomal recessive (AR) 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?

MEDNIK syndrome 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?

100% 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?

None of the above 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?

AIDS 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?

Liver 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?

NF1 (Neurofibromatosis type 1) 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?

ABCC6 (PXE) 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?

Netherton syndrome 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?

25% 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?

TBX6 (Spondylocostal dysostosis) 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?

Autosomal dominant 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?

50% 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?

Ectopic brain tissue or neural tube defect 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?

LMNA gene mutation causing progeria (AD) 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?

Legius syndrome with SPRED1 gene mutation Signup and view all the answers

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

Autosomal Dominant (AD) 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?

25 percent 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?

PXE gene mutation Signup and view all the answers

Which genetic defect is most likely associated with Legius syndrome?

SPRED1 gene mutation 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?

LMNA gene mutation causing progeria (AD) 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?

Autosomal Dominant (AD) Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

Posterior subcapsular cataract Signup and view all the answers

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

LEKT1 or 5 gene mutation Signup and view all the answers

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

X-Linked Recessive (XLR) 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?

Muir Torre syndrome Signup and view all the answers

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

Sjogren-Larsson syndrome 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?

Autosomal Dominant (AD) 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?

BRCA1 gene 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?

PTCH1 gene 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?

Autosomal Dominant (AD) Signup and view all the answers

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

X-Linked Recessive (XLR) Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

More specific ant subcapsular 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?

LMNA gene 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?

LEKT1 or 5 gene Signup and view all the answers

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

Progeria (LMNA) gene Signup and view all the answers

What genetic defect is most likely associated with Legius syndrome?

SPRED1 gene 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?

LEKT1 or 5 gene 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?

Zero percent Signup and view all the answers

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

Tay's syndrome Signup and view all the answers

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

Autosomal dominant (AD) 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?

Brain ectopic tissue/neural tube defect Signup and view all the answers

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

Autosomal dominant (AD) 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?

LEKT1 or 5 gene Signup and view all the answers

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

Sjogren-Larsson syndrome 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?

Eye 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?

Autosomal dominant (AD) 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?

Fibulin 5 Signup and view all the answers

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

Papular 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?

Muir-Torre syndrome 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?

Telomere gene defect Signup and view all the answers

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

Fibulin 5 in cutis laxa 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?

Brain ectopic tissue/neural tube defect 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?

Zero Signup and view all the answers

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

Tays AR (Like TTD without photosensitivity and normal gonads) Signup and view all the answers

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

AD 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?

Legius syndrome 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?

SPRED1 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?

(AR) Autosomal recessive 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?

Zero Signup and view all the answers

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

MEDNIK syndrome Signup and view all the answers

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

LMNA gene 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?

SPRED1 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?

MEDNIK syndrome 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?

Gorlin syndrome Signup and view all the answers

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

Eye 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?

100% Signup and view all the answers

What type of cataract is more specific in atopic dermatitis?

More specific ant subcapsular 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?

AIDS Signup and view all the answers

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

Desmin and smooth muscle gene defect 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?

Fibulin 5 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?

Zero 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?

Gorlin-Goltz syndrome /PTCH1 /AD Ch9 Signup and view all the answers

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

Topical steroid 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?

Acantholysis without dyskeratosis Signup and view all the answers

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?

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

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?

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?

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

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

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

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

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

What type of cataract is more specific in atopic dermatitis?

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

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

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

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

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?

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?

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

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

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?

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

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

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

What type of cataract is more specific in atopic dermatitis?

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

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

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

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

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?

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?

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

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

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?

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?

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?

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

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?

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?

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?

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

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

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

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

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

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

Which genetic defect is most likely associated with Legius syndrome?

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?

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?

What type of cataract is more specific in atopic dermatitis?

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

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

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

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

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

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

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

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

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

What type of cataract is more specific in atopic dermatitis?

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?

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?

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

What genetic defect is most likely associated with Legius syndrome?

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?

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?

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

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

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

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

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

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

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?

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

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

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

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

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?

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