Genoderms Mix #1

Question 1

A 6-year-old male is brought to the clinic for evaluation of a generalized skin condition. The parents report that the scaling has been present since early infancy. Physical examination reveals large, adherent, dark brown scales with a “dirty” appearance, particularly prominent on the extensor surfaces of the limbs and the neck. Notably, the palms, soles, and flexural areas (antecubital and popliteal fossae) are spared. Upon further questioning, the mother mentions she had a history of prolonged labor and required a Cesarean section due to a failure of labor progression.

Which of the following is the most likely genetic or clinical finding associated with this patient’s condition?
A. Mutations in the FLG gene resulting in an absent granular layer.
B. Comma-shaped corneal opacities on slit-lamp examination.
C. Odontogenic jaw cysts and bifid ribs.
D. Double-edged scale known as ichthyosis linearis circumflexa.
E. Mutations in the ATP2A2 gene causing suprabasal acantholysis.

Answer 1

B. Comma-shaped corneal opacities on slit-lamp examination.

XLI is caused by deletions or mutations in the steroid sulfatase (STS) gene. Characteristic extracutaneous findings include asymptomatic comma-shaped corneal opacities and an increased risk of cryptorchidism, which carries a higher risk of testicular cancer.

Question 2

A child with known NF1 develops precocious puberty.
What is the most likely underlying cause?
A. Adrenal cortical tumor
B. Hypothalamic involvement from optic pathway glioma
C. Pituitary adenoma
D. Neuroblastoma
E. Pheochromocytoma

Answer 2

Answer: B
Explanation:
Precocious puberty in NF1 is a red flag for CNS tumor, especially optic pathway glioma affecting the hypothalamus

Question 3

A 10-year-old boy with multiple café-au-lait macules is found to have hypertension.
Which is the most appropriate initial evaluation?

A. Serum cortisol
B. Renal artery imaging
C. ECG
D. Thyroid function tests
E. Skin biopsy

Answer 3

Answer: B
Explanation:
In NF1, renal artery stenosis is a key cause of pediatric hypertension; evaluation is essential

Question 4

A child with NF1 develops multiple juvenile xanthogranulomas (JXG).
What serious association should be considered?
A. Langerhans cell histiocytosis
B. Acute lymphoblastic leukemia
C. Non-lymphocytic leukemia
D. Hodgkin lymphoma
E. Multiple myeloma

Answer 4

Answer: C
Explanation:
NF1 + JXG is associated with non-lymphocytic leukemia, though risk is low

Question 5

A 9-year-old boy presents for evaluation of more than six café-au-lait macules and significant axillary freckling.
Which of the following findings on slit-lamp examination would confirm the diagnosis? A. Angioid streaks
B. Kayser-Fleischer rings
C. Lisch nodules
D. Spoke-like corneal opacities
E. Glistening dots

Answer 5

Correct Answer: C. Lisch nodules
Rationale: Lisch nodules are pigmented iris hamartomas found in >90% of NF1 patients after age 7. Axillary freckling is also known as Crowe’s sign

Question 6

A neonate presents with multiple (>6) cutaneous hemangiomas.
What is the most appropriate next investigation?
A. Skin biopsy
B. Liver ultrasound
C. Bone marrow biopsy
D. MRI brain only
E. No further workup

Answer 6

Answer: B
Explanation:
Multiple hemangiomas raise concern for diffuse neonatal hemangiomatosis with visceral involvement, especially liver

Question 7

An infant with multiple hemangiomas develops high-output cardiac failure.
What is the most likely mechanism?
A. Myocarditis
B. Arteriovenous shunting within hemangiomas
C. Congenital heart defect
D. Pulmonary hypertension
E. Sepsis

Answer 7

Answer: B
Explanation:
Visceral hemangiomas (especially hepatic) cause AV shunting → high-output cardiac failure

Question 8

A teenager presents with asymmetric limb deformity and multiple compressible blue vascular lesions. Imaging shows enchondromas.
What is the most likely diagnosis?
A. Ollier disease
B. Blue rubber bleb nevus syndrome
C. Maffucci syndrome
D. Proteus syndrome
E. Klippel-Trénaunay syndrome

Answer 8

Answer: C
Explanation:
Maffucci syndrome = enchondromas + venous malformations, often asymmetric

Question 9

A patient with Maffucci syndrome is at highest risk of developing which malignancy?
A. Basal cell carcinoma
B. Melanoma
C. Chondrosarcoma
D. Leukemia
E. Squamous cell carcinoma

Answer 9

Answer: C
Explanation:
There is a 15–20% risk of chondrosarcoma arising in enchondromas

Question 10

A 2-month-old infant presents with generalized erythroderma and severe failure to thrive. On physical examination, the skin shows ichthyosis linearis circumflexa with a characteristic double-edged scale. A hair mount demonstrates trichorrhexis invaginata. Which of the following genes is mutated in this condition?
A. TGM1
B. SPINK5
C. FLG
D. ABCA12
E. STS

Answer 10

Correct Answer: B. SPINK5

Rationale: Netherton syndrome is an autosomal recessive disorder caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. Clinical hallmarks include erythroderma, “bamboo hair” (trichorrhexis invaginata), and ichthyosis linearis circumflexa

Question 11

A 22-year-old female presents with malodorous, crusted keratotic papules in a seborrheic distribution. Examination of the oral cavity reveals a “cobblestone” appearance of the hard palate. Which cellular protein is dysfunctional in this patient?
A. Keratin 5/14
B. SERCA2 calcium pump
C. Desmoglein 3
D. Filaggrin E. Loricrin

Answer 11

Correct Answer: B. SERCA2 calcium pump
Rationale: Darier disease is caused by mutations in ATP2A2, which encodes the SERCA2 calcium ATPase pump in the endoplasmic reticulum. Cobblestoning of the oral mucosa is a common clinical feature

Question 12

A newborn female presents with a vesicular eruption following the lines of Blaschko. There is no history of maternal infection. The mother mentions she has had two previous miscarriages of male fetuses.
What is the expected next clinical stage for this patient’s skin lesions?
A. Hyperpigmented swirls
B. Atrophic hypopigmentation
C. Verrucous plaques
D. Diffuse erythroderma
E. Large dark-brown scales

Answer 12

Correct Answer: C. Verrucous plaques
Rationale: Incontinentia Pigmenti (IP) is an X-linked dominant disorder (often lethal in males) that progresses through four stages: 1) Vesicular, 2) Verrucous, 3) Hyperpigmented, and 4) Hypopigmented/atrophic

Question 13

A 6-year-old child with a history of infantile spasms presents with several hypopigmented macules.

Which of the following is the most characteristic facial finding in this syndrome?
A. Trichilemmomas
B. Angiofibromas
C. Sebaceous adenomas
D. Mucosal neuromas
E. Basal cell carcinomas

Answer 13

Correct Answer: B. Angiofibromas
Rationale: Facial angiofibromas (formerly adenoma sebaceum) are a major diagnostic criterion for Tuberous Sclerosis. Other findings include Shagreen patches, periungual fibromas (Koenen tumors), and ash-leaf spots

Question 14

A 3-year-old child with silvery-grey hair and ocular albinism presents with recurrent pyogenic infections.
What would a peripheral blood smear most likely reveal?
A. Schistocytes
B. Giant lysosomal granules in neutrophils
C. Howell-Jolly bodies
D. Target cells E. Sickle cells

Answer 14

Correct Answer: B. Giant lysosomal granules in neutrophils

Rationale: Chediak-Higashi syndrome (mutations in LYST) is characterized by partial albinism, silvery hair, and immune deficiency. The diagnostic laboratory finding is the presence of giant granules in leukocytes

Question 15

A 4-month-old male infant presents with developmental delay, seizures, and scalp hair that feels like “steel wool.” This condition is caused by a defect in the transport of which metal?
A. Zinc
B. Iron
C. Copper
D. Magnesium
E. Selenium

Answer 15

Correct Answer: C. Copper
Rationale: Menkes syndrome is an X-linked recessive disorder caused by mutations in ATP7A, leading to impaired copper transport. This results in sparse, kinky hair (pili torti) and neurological deterioration

Question 16

A 28-year-old female presents with yellowish papules on her neck and axillae that resemble “plucked chicken skin.”
Which of the following is an essential extracutaneous screening for this patient?
A. Renal ultrasound
B. Colonoscopy
C. Funduscopic exam for angioid streaks
D. Chest X-ray for bifid ribs
E. Echocardiogram for mitral valve prolapse

Answer 16

Correct Answer: C. Funduscopic exam for angioid streaks
Rationale: PXE (mutations in ABCC6) affects elastic fibers. Angioid streaks in the ocular fundus are a hallmark sign and can lead to visual impairment

Question 17

A 24-year-old patient with very thin, translucent skin and visible veins presents with a sudden history of spontaneous pneumothorax.
Which gene is most likely involved?
A. COL1A1
B. COL5A1
C. COL3A1
D. FBN1
E. TNXB

Answer 17

Correct Answer: C. COL3A1
Rationale: The vascular type of Ehlers-Danlos syndrome is caused by mutations in COL3A1, which encodes type III collagen. It is characterized by thin skin and a high risk of spontaneous arterial or organ rupture

Question 18

A 14-year-old male describes episodic, severe burning pain in his hands and feet, particularly during exercise. Examination reveals numerous small, dark red-to-purple papules (angiokeratomas) in the “bathing suit” area.
What is the characteristic eye finding?
A. Glistening dots
B. Spoke-like (“whorled”) corneal opacities
C. Lisch nodules
D. Optic atrophy
E. Ectopia lentis

Answer 18

Correct Answer: B. Spoke-like (“whorled”) corneal opacities
Rationale: Fabry disease is an X-linked recessive lysosomal storage disorder caused by -galactosidase A deficiency (GLA). Characteristic signs include angiokeratomas, acroparesthesia, and vortex keratopathy (whorled corneal opacities)

Question 19

A 4-year-old child presents with congenital ichthyosis, mental retardation, and spastic diplegia (the “Triad”). Which of the following is a pathognomonic ophthalmic finding? A. Cataracts
B. Retinitis pigmentosa
C. Glistening dots in the retina
D. Corneal ulcers
E. Angioid streaks

Answer 19

Correct Answer: C. Glistening dots in the retina
Rationale: Sjögren-Larsson syndrome is an autosomal recessive disorder (ALDH3A2) characterized by ichthyosis, spasticity, and glistening dots in the macula of the retina

Question 20

A teenager presents with numerous small, dark brown lentigines on the lips and oral mucosa.
Which of the following is the most important clinical concern?
A. Basal cell carcinoma
B. Hamartomatous GI polyposis and cancer
C. Osteosarcoma
D. Medullary thyroid carcinoma
E. Renal cell carcinoma

Answer 20

Correct Answer: B. Hamartomatous GI polyposis and cancer
Rationale: Peutz-Jeghers syndrome is caused by mutations in STK11. It presents with periorificial lentigines and predisposes patients to hamartomatous GI polyps and a high risk of GI and other internal cancers

Question 21

A 30-year-old patient presents with multiple epidermoid cysts on the face and scalp, as well as several osteomas of the mandible.
Without intervention, what is the lifetime risk of colon cancer for this patient?
A. 10%
B. 25%
C. 50%
D. 75%
E. 100%

Answer 21

Correct Answer: E. 100%

Rationale: Gardner syndrome (a variant of Familial Adenomatous Polyposis caused by APC mutations) is associated with multiple sebaceous/epidermoid cysts, osteomas, and a 100% risk of colon adenocarcinoma if not treated with prophylactic colectomy

Question 22

An infant is evaluated for severely thickened, wedge-shaped nails on all fingers and toes. Oral examination reveals leukoplakia on the tongue. This specific phenotype (Jadassohn-Lewandowsky) is typically caused by mutations in:
A. KRT6a or KRT16
B. KRT6b or KRT17
C. KRT1 or KRT10
D. ATP2A2
E. GJB2

Answer 22

Correct Answer: A. KRT6a or KRT16
Rationale: Pachyonychia Congenita Type 1 involves nail thickening and oral leukoplakia, caused by mutations in keratins 6a or 16. Type 2 (Jackson-Lawler) involves keratins 6b or 17 and features steatocystoma multiplex

Question 23

A 5-year-old child presents with short stature and a telangiectatic “butterfly” rash on the face that worsens after sun exposure. What is the underlying molecular defect?
A. Nucleotide excision repair
B. DNA mismatch repair
C. RecQ DNA helicase deficiency
D. P53 deficiency
E. Collagen cross-linking defect

Answer 23

Correct Answer: C. RecQ DNA helicase deficiency

Rationale: Bloom’s syndrome is an autosomal recessive disorder caused by mutations in RECQL3, which encodes a RecQ DNA helicase. It presents with short stature, sun-sensitive malar erythema, and extreme cancer susceptibility

Question 24

An 8-year-old child living in a sunny climate presents with extreme freckling, multiple solar lentigines, and two biopsy-proven squamous cell carcinomas.
What is the defective biological process?
A. Base excision repair
B. Nucleotide excision repair
C. Mismatch repair
D. Double-strand break repair
E. Telomere maintenance

Answer 24

Correct Answer: B. Nucleotide excision repair
Rationale: XP is a disorder of nucleotide excision repair (NER), preventing the repair of DNA damage caused by UV radiation

Question 25

A child presents with poikiloderma of the face and extremities, sparse hair, and absent thumbs. Which malignancy is this patient at significantly increased risk for? A. Osteosarcoma B. Melanoma C. Medulloblastoma D. Leukemia E. Rhabdomyosarcoma

Answer 25

Answer: A. Osteosarcoma Rationale: Rothmund-Thomson syndrome (mutations in RECQL4) features poikiloderma and skeletal defects. Patients with truncating mutations are specifically at high risk for osteosarcoma

Question 26

A 25-year-old male presents with the triad of reticulated pigmentation on the neck, nail dystrophy, and oral leukoplakia. What is the most common cause of mortality in this condition? A. Squamous cell carcinoma B. Pulmonary fibrosis C. Bone marrow failure D. Aortic aneurysm E. Esophageal cancer

Answer 26

C. Bone marrow failure Rationale: Dyskeratosis Congenita is a telomere biology disorder. The primary cause of death (80% of cases) is bone marrow failure, typically occurring in the second or third decade

Question 27

A patient presents with multiple skin-colored facial papules identified as trichilemmomas and a "cobblestone" tongue. Which associated malignancy carries the highest risk for female patients? A. Thyroid cancer B. Ovarian cancer C. Breast cancer D. Endometrial cancer E. Colon cancer

Answer 27

Correct Answer: C. Breast cancer Rationale: Cowden syndrome (PTEN mutation) features trichilemmomas and hamartomas. The highest cancer risk for females is breast adenocarcinoma (estimated at 76%)

Question 28

A 3-year-old child presents with congenital ichthyosis, severe mental retardation, and a characteristic "scissor gait" due to spastic diplegia. Which of the following findings on funduscopic examination would most likely be present? A. Angioid streaks B. Kayser-Fleischer rings C. Glistening dots in the retina D. Lisch nodules E. Optic atrophy

Answer 28

Correct Answer: C. Glistening dots in the retina Rationale: Sjögren-Larsson syndrome (mutations in ALDH3A2) is characterized by the triad of ichthyosis, mental retardation, and spasticity. Pathognomonic glistening dots are frequently found in the macula

Question 29

A 30-year-old male presents with late-onset ichthyosis, night blindness (retinitis pigmentosa), and peripheral neuropathy. Laboratory testing confirms a deficiency in phytanoyl-CoA hydroxylase. What is the primary dietary recommendation for this patient? A. Low-zinc diet B. High-protein diet C. Diet low in green vegetables and dairy D. Gluten-free diet E. High-phenylalanine diet

Answer 29

Correct Answer: C. Diet low in green vegetables and dairy Rationale: Refsum syndrome leads to an inability to break down phytanic acid, which is found in green vegetables and ruminant fats. Managing the diet is the primary therapy

Question 30

A patient is referred for evaluation of blue lunulae on the fingernails and pretibial hyperpigmentation. Physical exam reveals poor muscle coordination and abdominal distension suggestive of cirrhosis. Which ocular finding is associated with this condition? A. Lisch nodules B. Kayser-Fleischer rings C. Trachoma D. Cataracts E. Blue sclerae

Answer 30

Correct Answer: B. Kayser-Fleischer rings Rationale: Wilson’s disease (ATP7B mutation) results in elevated copper levels, leading to cirrhosis and neurological issues. Copper deposition in Descurmet’s membrane forms the characteristic Kayser-Fleischer rings

Question 31

A 12-year-old boy presents with triangular lunulae and dystrophic nails. Orthopedic evaluation reveals hypoplastic patellae. Which radiographic finding is highly specific for this diagnosis? A. Bifid ribs B. Calcified falx cerebri C. Posterior iliac horns D. Odontogenic cysts E. Spina bifida occulta

Answer 31

Correct Answer: C. Posterior iliac horns Rationale: Nail-Patella syndrome is caused by mutations in LMX1B. The presence of posterior iliac horns is a pathognomonic skeletal finding

Question 32

An infant is born with a large Port-Wine Stain involving the V1 distribution of the trigeminal nerve. Which of the following intracranial findings is associated with this syndrome? A. Optic glioma B. Acoustic neuroma C. "Tram track" cortical calcifications D. Meningioma E. Pituitary adenoma

Answer 32

Correct Answer: C. "Tram track" cortical calcifications Rationale: Sturge-Weber syndrome involves a facial port-wine stain and leptomeningeal angiomatosis. Radiographic imaging typically shows "tram track" calcifications of the cerebral cortex

Question 33

A 45-year-old male presents with multiple small, flesh-colored dome-shaped papules on the face, histologically identified as fibrofolliculomas. He has a history of a spontaneous pneumothorax. This patient is at an increased risk for which malignancy? A. Squamous cell carcinoma B. Medullary thyroid carcinoma C. Renal cell carcinoma D. Colon cancer E. Basal cell carcinoma

Answer 33

Correct Answer: C. Renal cell carcinoma Rationale: Birt-Hogg-Dubé syndrome (mutations in FLCN) is characterized by fibrofolliculomas, trichodiscomas, acrochordons, spontaneous pneumothoraces, and a high risk of renal cell carcinoma

Question 34

A 25-year-old patient presents with widespread, flat, wart-like lesions and pityriasis versicolor-like macules. The increased susceptibility to which HPV types puts this patient at high risk for SCC? A. HPV 1 and 2 B. HPV 6 and 11 C. HPV 5 and 8 D. HPV 16 and 18 E. HPV 3 and 10

Answer 34

Correct Answer: C. HPV 5 and 8 Rationale: Epidermodysplasia Verruciformis (EV) is an autosomal recessive disorder causing extreme susceptibility to specific "EV-types" of HPV, notably HPV 5 and 8, which lead to squamous cell carcinomas in 50% of patients

Question 35

A child presents with progressive truncal ataxia and ocular telangiectasias that appeared in early childhood. Which laboratory finding is commonly elevated in these patients? A. Serum IgA B. Alpha-fetoprotein (aFP) C. Phytanic acid D. Zinc levels E. Phenylalanine

Answer 35

Correct Answer: B. Alpha-fetoprotein (aFP) Rationale: Ataxia-Telangiectasia (ATM mutation) features neurodegeneration, immunodeficiency, and cancer proneness. An elevated aFP level is a useful diagnostic laboratory marker

Question 36

A 20-year-old patient reports recurrent episodes of high fever, abdominal pain, and arthritis. During these flares, the patient develops a bright red, erysipelas-like erythema on the lower legs. What is the inheritance pattern of this condition? A. X-linked dominant B. X-linked recessive C. Autosomal dominant D. Autosomal recessive E. Mitochondrial

Answer 36

Correct Answer: D. Autosomal recessive Rationale: Familial Mediterranean Fever is an autosomal recessive autoinflammatory disorder caused by mutations in the pyrin (MEFV) gene

Question 37

A female infant presents with unilateral inflammatory ichthyosiform erythroderma that strictly respects the midline, associated with ipsilateral limb defects. This syndrome is caused by a defect in which biological process? A. Nucleotide excision repair B. Collagen biosynthesis C. Cholesterol biosynthesis D. Copper transport E. Calcium pump function

Answer 37

Correct Answer: C. Cholesterol biosynthesis Rationale: CHILD syndrome is an X-linked dominant condition caused by mutations in NSDHL, which is involved in the cholesterol biosynthetic pathway

Question 38

A patient presents with generalized hyperkeratotic plaques, nail dystrophy, vascularizing keratitis leading to progressive blindness, and profound sensorineural hearing loss. Which malignancy are these patients specifically predisposed to? A. Basal cell carcinoma B. Renal cell carcinoma C. Squamous cell carcinoma of the skin and tongue D. Melanoma E. Leukemia

Answer 38

Correct Answer: C. Squamous cell carcinoma of the skin and tongue Rationale: KID syndrome (caused by GJB2 mutations) is associated with an increased risk of SCC of both the skin and oral mucosa

Question 39

A 40-year-old male notices that his urine turns dark black after standing. Examination reveals blue-grey pigmentation of the ear cartilage and sclera. Which substance accumulates in the tissues of this patient? A. Phytanic acid B. Copper C. Homogentisic acid D. Phenylalanine E. Protoporphyrin IX

Answer 39

Correct Answer: C. Homogentisic acid Rationale: Alkaptonuria is caused by a deficiency in homogentisic acid oxidase, leading to the accumulation of homogentisic acid, which binds to connective tissues (ochronosis) and darkens urine

Question 40

A patient presents with palmoplantar keratoderma, knuckle pads, and leukonychia (white nails). What is the most common associated extracutaneous finding? A. Intellectual disability B. Spasticity C. Sensorineural hearing loss D. Cataracts E. Renal failure

Answer 40

Correct Answer: C. Sensorineural hearing loss Rationale: Bart-Pumphrey syndrome is allelic with KID and Vohwinkel syndromes, all caused by GJB2 (Connexin 26) mutations, which are the leading cause of non-syndromic hearing impairment

Question 41

A child presents with multiple soft, compressible, blue-to-purple nodules on the trunk and arms. You suspect Blue Rubber Bleb Nevus Syndrome Which complication is the most frequent cause of morbidity? A. Malignant transformation to angiosarcoma B. Spontaneous rupture and hemorrhage C. Gastrointestinal bleeding and chronic anemia D. High-output heart failure E. Osteosarcoma

Answer 41

Correct Answer: C. Gastrointestinal bleeding and chronic anemia Rationale: The "blebs" in this syndrome frequently occur in the GI tract (especially the small intestine), leading to chronic bleeding and anemia

Question 42

An infant presents with recurrent Sweet's syndrome-like pustular dermatosis and multifocal osteomyelitis. Which hematologic abnormality is characteristic of this syndrome? A. Cyclic neutropenia B. Congenital dyserythropoietic anemia C. Thrombocytopenia D. Leukocytosis E. Aplastic anemia

Answer 42

Correct Answer: B. Congenital dyserythropoietic anemia Rationale: Majeed syndrome (LPIN2 mutation) is defined by the triad of chronic recurrent multifocal osteomyelitis, Sweet's syndrome, and congenital dyserythropoietic anemia

Question 43

A 30-year-old patient presents with a "bird-like" facies, high-pitched voice, and severe sclerodermoid skin changes. He has developed chronic leg ulcers over bony prominences. Which gene is mutated in this autosomal recessive disorder? A. RECQL3 B. RECQL4 C. WRN (a RecQ helicase) D. LMNA E. ATM

Answer 43

Correct Answer: C. WRN (a RecQ helicase) Rationale: Werner syndrome is caused by mutations in WRN (RECQL2), encoding a DNA helicase involved in repair and telomere maintenance. It is distinguished from Progeria (Hutchinson-Gilford) by its later onset in the second or third decade

Question 44

A 3-year-old boy presents with multiple café-au-lait macules (all >5 mm), but no axillary freckling or neurofibromas. His father has segmental café-au-lait macules but no systemic features. What is the most appropriate interpretation? A. The child does not meet criteria for NF1 B. The father likely has mosaic NF1, increasing recurrence risk C. The child has McCune-Albright syndrome D. Genetic testing is mandatory before diagnosis E. This represents a benign familial pigmentation variant

Answer 44

Answer: B Explanation: Segmental involvement in a parent suggests mosaic NF1, which carries a risk of transmission to offspring. NF1 may present incompletely in early childhood; surveillance is required

Question 45

A 10 year old boy presents with marked onychodystrophy, PPK with stippling and hypotrichosis with brittle hair. He has normal sweating, facial features and teeth. You suspect that he has... a) Hypohidrotic Ectodermal Dysplasia b) Pachyonychia Congenita c) Dyskeratosis Congenita d) Clousten Syndrome e) Bart Pumphrey syndrome

Answer 45

Clousten Syndrome AKA- Hidrotic ectodermal Dysplasia. AD, mutation in GJB6 (connexin 30)

Question 46

The defects associated with Shopf- Schultz- Passarge Syndrome is a) P63 b) IKBKG c) PIK3Ca d) RASA 1 e) WNT10a

Answer 46

WNT10A, AR. Ectodermal dysplasia with multiple eye lid apocrine hidrocystomas, PPK, nail dystrophy, hypodontia and increased risk of BCC. Think of a Pirate without teeth, multiple eye lid cysts and a hook (PPK and nail dystrophy). ARRRRRRRR

Question 47

A 30yo F presents with multiple pilomatricomas. The following conditions are associated with this presentation a) Gardners, Rubenstein Taybi, Myotonic distrophy and Kabuki syndrome b) Gardners, Cowdens and Brooke Spiegler c) Men1 and Men 2b d) Carney Complex and Gardners syndrome e) Gorlins Syndrome

Answer 47

a) Gardners, Rubenstein Taybi, Myotonic distrophy and Kabuki syndrome

Question 48

A 3 months old infant presents with failure to thrive, an eczematous periorificial eruption and a vesiculopustular eruption in the diaper area. She was weaned off breast milk on to formula 4 weeks ago and has intermittent diarrhoea. Mum is worried that she has a a cows milk protein intolerance and has switched her to a goats milk based formula yesterday. The most fitting diagnosis is a) Cows milk protein intolerance b) Underfeeding c) Acrodermatitis Enteropathica d) Hirschprungs e) Cystic fibrosis

Answer 48

Acrodermatitis Enteropathica SLC39A4 Serum Zn low Serum ALP low If Zn N- screen for Biotin deficiency and CF

Question 48

A 7-year-old child presents with diffuse, symmetric, transgrediens palmoplantar keratoderma and severe periodontitis resulting in the premature loss of most primary teeth. Radiographic imaging of the skull reveals calcification of the dura mater. Which of the following is the most accurate regarding this condition? A. It is caused by mutations in the keratin 9 gene. B. The condition is associated with a 100% lifetime risk of colon cancer. C. It is an autosomal recessive disorder caused by mutations in Cathepsin C. D. The palmoplantar keratoderma is non-transgrediens and limited to the friction areas. E. Ablative surgery is the only effective treatment for the dental defects.

Answer 48

Correct Answer: C Rationale: The patient has Papillon–Lefèvre syndrome, which is characterized by the triad of transgrediens PPK, periodontitis leading to tooth loss, and dural calcifications. It is inherited in an autosomal recessive manner and is caused by mutations in the Cathepsin C gene. Choice B refers to Gardner syndrome, and Choice A refers to Vörner PPK.