Peds DIR Questions

Question 1

What is the function of the gene which is defective in ataxia-telangiectasia?

Answer 1

• defective gene is ataxia-telangiectasia (Louis-Bar syndrome) is the ATM gene, which is responsible for DNA repair
• Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.

Question 2

Name the syndrome: characterized by aplasia cutis congenita on the scalp (with skull ossification defect), cutis marmorata telangiectatica congenita, limb defects and cardiac abnormalities. Aplasia cutis congenital (ACC) is characterized by an absence of skin and subcutaneous tissue.

Answer 2

Adams-Oliver Syndrome

Question 3

What syndrome to think of when you see perianal hemangioma

Answer 3

PELVIS Syndrome

PELVIS syndrome (Perineal hemangioma, External genital malformation, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, Skin tag).

Question 4

Which palmoplantar keratoderma is characterized by painful focal hyperkeratosis and keratitis?

Answer 4

While most palmoplantar keratodermas are characterized by thick plaques of the palms and soles that are usually painless, Richner-Hanhart (aka Tyrosinemia Type II) is classically associated with painful, focal lesions, rendering it distinctive. Richner-Hanhart is also associated with pseudoherpetic keratitis and progressive mental retardation. It is due to an autosomal recessive mutation in hepatic tyrosine aminotransferase (TAT). It is treated with a diet restricted in tyrosine and phenylalanine.

Question 5

focal PPK over pressure areas (balls of feet > hands), oral leukokeratosis, and an increased risk of esophageal cancer

Answer 5

Howel-Evans

Question 6

diffuse honeycomb-like PPK, pseudoainhum, starfish-shaped keratoses, and sensorineural deafness

Answer 6

Classic Vohwinkel

Question 7

manifests as non-transgradient PPK with erythematous border, hyperhidrosis, and patients commonly develop secondary tinea infections or pitted keratolysis

Answer 7

Unna-Thost (aka Non-epidermolytic PPK)

Question 8

transgradient PPK, hyperhidrosis with malodor and secondary infections, perioral erythema, thickened nails, and koilonychia

Answer 8

Mal de Meleda

Question 9

What type of virus is Roseola

Answer 9

Human Herpesvirus 6, a double stranded DNA virus

Question 10

mutation in the CIAS1 gene and presents with sensorineural deafness, recurrent hives, and amyloidosis

Answer 10

Muckle-Wells syndrome

Question 11

rare periodic fever syndrome characterised by attacks of fever, arthralgia, skin lesions including cyclical mouth ulcers, and diarrhea due to mutations in the mevalonate kinase gene

Answer 11

Hyper-IgD syndrome

Question 12

name the defect in intestinal zinc-specific transporter

Answer 12

SLC39A4

Question 13

An infant presents with red-purple, granulomatous nodules occurring in the diaper area. The etiology is secondary to local irritation, maceration, and Candida albicans. What is the most likely diagnosis?

Answer 13

granuloma gluteale infantum

-Treatment consists of topical antifungal agents, barrier creams, and anti-inflammatory agents as needed.

Question 14

Which disease: immunodeficiency has an increased risk of lymphoreticular malignancy?

Answer 14

Wiskott-Aldrich syndrome is an X-linked recessive disorder caused by mutations in WAS gene

Question 15

signs of late postnatal congenital syphilis (4)

Answer 15

Clutton’s joints are nontender and represent synovitis with effusions of the knees and elbows.
Higoumenaki’s sign is a unilateral clavicular enlargement secondary to periostitis.
Hutchinson’s teeth are centrally notched, wide spaced, peg shaped upper incisors.
Saber shins are anterior bowing of the tibia.

Question 16

What type of virus is 5th disease (slapped cheek)?

Answer 16

ssDNA virus

Question 17

acronym POEMS stands for

Answer 17

polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes.

Question 18

Early vs late congenital syphilis

Answer 18

2 years of age

Question 19

LMX1B, which encodes a transcription factor that regulates collagen synthesis–name the syndrome

Answer 19

Nail Patella Syndrome

Question 20

What type of porphyria does not have skin findings?

Answer 20

Acute intermittent pophyria is caused by a defect in the enzyme porphobilinogen deaminase. Patients present with peripheral neuropathy and occasionally seizures, abdominal pain, and tachycardia

Question 21

What is the defect in Hereditary coproporphyria?

Answer 21

Hereditary coproporphyria is characterized by photosensitivity and can also present with neuropsychiatric issues. They also have skin fragility and blistering is common. It is caused by a defect in Coproporphyrinogen oxidase.

Question 22

Pachyonychia congenita type 2 may be associated with (2)?

Answer 22

natal teeth and steatocystoma

Question 23

Pachyonychia congenita type 1 is associated with (1)

Answer 23

benign leukoplakia.

Question 24

characterized by photosensitive facial rash in a “butterfly” distribution, high-pitched voice, and increased risk of premature death due to leukemia, lymphoma, and gastrointestinal adenocarcinoma. These patients can also have decreased immunoglobulins (IgA, IgM, IgG) and dysfunctional helper T cells, presenting with history of recurrent gastrointestinal and respiratory infections. Patients may have severe failure to thrive in infancy. The diagnosis is highly supported by immunoglobulin abnormalities and RecQL3 mutations

Answer 24

Bloom syndrome

Question 25

Where are accessory tragi located

Answer 25

preauricular area to oral commisure (along the fusion line of the the first brachial arch)