Dermatologic disorders/Endocrine Disorders

Question 1

• partial or total alopecia
• dystrophy of the nails
• hyperpigmentation of the skin (especially over the joints)
• clubbing of the fingers
• palmoplantar kertoderma
• normal sweating and teeth

Answer 1

• Hidrotic Ectodermal Dysplasia 2 (HED2)
• GJB6
• Autosomal dominant

Question 2

• hypotrichosis
• hypohydrosis
• hypodontia

Answer 2

• Hypohydrotic Ectodermal Dysplasia
• hemi zygous EDA pathogenic variant in an affected male or biallelic EDAR, EDARADD, or WNT10A pathogenic variants in an affected male or female confirms the diagnosis.

Question 3

What are the 4 stages of the characteristic skin lesions in the condition Incontientia Pigmenti

Answer 3

• Stage 1: blistering
• Stage 2: wart like rash
• Stage 3: hyperpigmented macular swirls
• Stage 4: linear hypopigmentation

Also observed: Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including seizures, intellectual disability, and developmental delays are occasionally seen.

Question 4

What is the expected ration among liveborn of children of a mother with IP

Answer 4

• 33% unaffected females
• 33% affected females
• 33% unaffected males

Male conceptus with IKBKG loss of function variants misscarry

Question 5

Individuals with PWS or AS are often hypopigmented, with lighter hair and skin pigmentation than that of unaffected family members, why is that?

Answer 5

• OCA2
• deletion in PWS/AS region
• 15q11.2-q12
• haploinsufficienct of the P protien

Question 6

Acute onset adrenal insufficiency

may occur in a contigenous gene deletion syndrome with glycerol kinase deficiency and DMD

Answer 6

X-linked adrenal hypoplasia congenita

Xp21.3-p21.2

Question 7

Clinical fetures associated with congenital adrenal hypoplasia

Answer 7

• Virilized female
• percocious puberty
• adrenarche
• childhood virilization in males
• infant salt-wasting

Question 8

Newborn screening

congenital adrenal hyperplasia

hormone level

Answer 8

17 -hydroxyprogesterone elevated

Question 9

What levels of testosterone to you expect in adrogen insensitivity syndrome?

Answer 9

• Normal or elevated levels of testosterone
• with normal convertion to dihydrotestosterone

Question 10

hypogonaotropic hypoganadism

anosmia

Answer 10

type 1 and 2 Kallman syndrome

KAL, FGFR1

Question 11

hypogonadotropic hypogonadism

anosmia

bimanual synkinesis

renal anomalies

Answer 11

Kallman syndrome type 1

Question 12

hypoganadotropic hypogonadism

anosmia

cleft lip +/- CP

dental anomalies

ear anomalies

Answer 12

Kallman syndrome type 2

Question 13

Disease mechanism for Kleinfelter syndrome

Answer 13

• 1st or 2nd meiotic nondisjunction of either parent
• Maternal>paternal
• +AMA effect

Question 14

Coast of Maine Cafe au lait spots

polyostotic fibrous dysplasia

precocious puberty

Answer 14

Mccune -Albright Syndrome

Question 15

Mechanism of disease found in picture

Answer 15

• Early embryonic
• post zygotic
• somatic activating in GNAS
• cAMP pathway associated G-protien G_s alpha

Question 16

severe intrauterine growth retardation

hyperglycemia in the neonatal period that resolves by 18 months

dehydration

abscence of ketoacidosis

MOD?

Answer 16

• Transient neonatal diabetes mellitus
• UPD isodisomy 6q24 of paternal chromosome
• duplication of 6q24 on paternal chromosome
• maternal hypomethylation of 6q24
• results in overexpression of PLAGL1 and HYMAI

Question 17

congenital lymphoedema

coarctation of the aorta

gonadal dysgenesis

risk for aortic dissection and dilation with bicuspid AV

Answer 17

• Turner Syndrome
• 45,X
• complete or partial abscence of X
• genes on X chromosome excape inactivation; SHOX
• Normal intelligence
• hypothyroidism
• DM
• Renal malformations
• Chron’s disease
• strabismus
• recurrent OM, SNHL
• osteoperosis