Genoderms 1

Question 1

Pseudohypoparathyroidism, short stature, shortened fourth metacarpal, soft tissue calcification and ossification (i.e., osteoma cutis)

Answer 1

Albright Hereditary Osteodystrophy, GNAS1 (encodes a subunit for stimulatory G protein of adenylate cyclase: Gs)

Question 2

Severe nystagmus, increased SCC risk, pink nevi

Answer 2

Albinism, Oculocutaneous Type 1, TYR (tyrosinase)

Question 3

Nystagmus, blue/brown iris, light brown hair/skin

Answer 3

Albinism, Oculocutaneous Type 3 , TRP-1 (tyrosine-related protein)

Question 4

Dark urine on standing, ochronosis, valvular heart disease, arthritis, renal calculi, red-black ear wax

Answer 4

Alkaptonuria, HGD (homogentisate oxidase)

Question 5

↑Fibrofolliculomas, trichodiscomas, lipomas, ↑ CA (renal/colon/medullary thyroid), lung cysts

Answer 5

Birt-Hogg-Dubé Syndrome, FLCN (folliculin)

Question 8

Normal hair at birth but not replaced after hair sheds, follicular papules (± resembles keratosis pilaris)

Answer 8

Atrichia with Papules (Congenital Atrichia with Papules), HR (hairless gene: zinc finger)

Question 9

Scaly eczematous plaques over the perioral, perineal, and acral areas (hands/feet)

Answer 9

Acrodermatitis Enteropathica, SLC39A4

Question 10

Multiple BCCs, hypotrichosis, hypohidrosis, follicular atrophoderma (circumscribed areas on dorsal hands/feet)

Answer 10

Bazex Syndrome (Bazex-Dupre-Christol), Unknown (gene linked to Xq24-q27)

Question 11

deafness, pili torti

Answer 11

Björnstad Syndrome, CS1L

Question 12

Multiple trichoepitheliomas, cylindromas, spiradenomas, ± BCCs

Answer 12

Brooke-Spiegler Syndrome, CYLD (cylindromatosis)

Question 15

↑ Leukemia/lymphoma, ↑ sensitivity to ionizing radiation, ↑ sinopulmonary infections, progressive ataxia, telangiectasias

Answer 15

Ataxia-Telangiectasia (Louis-Bar Syndrome), ATM ( ataxia- telangiectasia mutated: chromosomal strand break repair)

Question 16

erosive scalp dermatitis, 80% cleft lip/ palate, ankyloblepharon, hypotrichosis

Answer 16

AEC Syndrome (Hay-Wells Syndrome), p63

Question 17

Cutis gyrata, acanthosis nigricans, craniosynostosis (premature fusion of certain bones in skull)

Answer 17

Beare-Stevenson Cutis Gyrata Syndrome, FGFR2 (fibroblast growth factor receptor 2)

Question 18

Oral SCC, leukemia/lymphoma, GI CA, ↑ infections, poikiloderma, photosensitivity, hypogonadism

Answer 18

Bloom Syndrome, BLM (RECQL3: DNA helicase)

Question 19

Macroglossia, circular depression (helices of ears), gigantism, midline abdominal wall defects, neonatal hypoglycemia, organomegaly, ↑ Wilms tumor

Answer 19

Beckwith-Wiedeman Syndrome, CDKN1C (cyclin-dependent kinase inhibitor 1c, aka p57, or Kip2)

Question 20

Acanthosis nigricans, type 2 diabetes mellitus, generalized lipodystrophy

Answer 20

Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy), BSCL2

Question 21

Macrocephaly, lipomas, hemangiomas, genital lentigines, trichilemmomas, ↑ breast/thyroid/GI cancer (CA)

Answer 21

Bannayan Riley Ruvalcaba Syndrome, PTEN (tumor suppressor gene)

Question 22

Nystagmus, light brown hair, pigmented nevi

Answer 22

Albinism, Oculocutaneous Type 2 , P protein