Genetic Skin Disorders and Dermatological Genetics
Quiz covering rare genetic disorders affecting the skin, connective tissues, and ectodermal structures, including their inheritance patterns and genetic bases
Questions
Which of the following is a grievous genetic skin disease that causes thickening of the stratum corneum of the epidermis?
- Harlequin ichthyosis
- Cystic fibrosis
- Grönblad-Strandberg syndrome
- Congenital generalised lipodystrophy
- Osler-Weber-Rendu syndrome
Which of the following is an autosomal dominant genetic disorder that causes unwanted blood vessel formation in skin, mucosa, lungs, liver and brain?
- Congenital generalised lipodystrophy
- Ehlers-Danlos syndrome
- Osler-Weber-Rendu disease
- Hemochromatosis
- Malignant melanoma
Which of the following is the disorder of connective tissues in which the skin becomes inelastic and hangs loosely in folds?
- Keratosis follicularis
- Pachydermatocele
- Hailey-Hailey disease
- Ataxia telangiectasia
- Familial colorectal polyposis
Which of the following is an exceedingly rare autosomal recessive disorder which causes oculocutaneous albinism, bleeding problems due to a thrombocyte's oddity and deposit of an unusual fat-protein compound?
- Wilson's disease
- Menkes syndrome
- Occipital horn syndrome
- Hornstein-Knickenberg syndrome
- Hermansky-Pudlak syndrome
Which of the following is a cutaneous condition that causes cystic and solid nodules to appear on the face?
- Brooke-Spiegler syndrome
- Papillon-League and Psaume syndrome
- Dermal eccrine cylindroma
- Smith-Lemli-Opitz syndrome
- Hermansky-Pudlak syndrome
Which of the following disorders causes abnormal thickening of the palms and soles and is associated with keratin 9 and keratin 16?
- HID syndrome
- KID syndrome
- Bart-Pumphrey syndrome
- Bart syndrome
- Vohwinkel syndrome
Which of the following disorders is incorrectly described?
- Trichothiodystrophy - autosomal recessive inherited disorder that causes brittle hair
- Classical homocystinuria - inherited disorder of the metabolism of the methionine
- Familial melanoma syndrome - unusual nevi and multiple inherited melanomas
- Chédiak-Higashi syndrome - benign skin tumor derived from the hair matrix
- WHIM syndrome - congenital immunodeficiency disorder that causes chronic non-cyclic neutropenia
Which of the following disorders causes unusual development of skin, hair, nails, dents and sudoriparous glands?
- Normophosphatemic familial tumoral calcinosis
- Meige lymphedema
- Lymphedema-distichiasis syndrome
- Christ-Siemens-Touraine syndrome
- Pachydermatocele
Which of the following is a congenital neurological and skin disorder that is caused by somatic activating mutation that occurs in the GNAQ gene?
- Progressive osseous heteroplasia
- Sturge-Weber syndrome
- Plate-like osteoma cutis
- Port-wine stain
- Capillary hemangioma
Match the following
| List - I | List - II |
| P. Ehlers-Danlos syndrome | 1. Autosomal dominant disorder |
| Q. Acrokeratosis verruciformis | 2. X-linked recessive connective tissue disorder |
| R. Louis-Bar syndrome | 3. X-linked congenital disorder |
| S. Orofaciodigital syndrome 1 | 4. Autosomal recessive disorder |
- P - 2, Q - 1, R - 4, S - 3
- P - 4, Q - 1, R - 2, S - 3
- P - 2, Q - 3, R - 4, S - 1
- P - 3, Q - 2, R - 1, S - 4
- P - 4, Q - 2, R - 3, S - 1
Which of the following disorders causes abnormalities of the ectodermal structure?
- Dark dot disease
- Pachyonychia congenita
- Epidermolytic hyperkeratosis
- Ectodermal dysplasia
- White sponge nevus
Match the following:
| Column - I | Column - II |
| P. Zinsser-Cole-Engman syndrome | 1. Rare recessive genetic disorder of skin with poor wound healing |
| Q. Urbach-Wiethe disease | 2. Autosomal dominant disorder caused by mutations in a connexin gene, GJB6/connexin-30 |
| R. Mendes da Costa syndrome | 3. Rare progressive congenital disorder with a highly variable phenotype |
| S. Clouston syndrome | 4. Rare genetic lysosomal storage disease, inherited in an X-linked manner |
| 5. Rare autosomal dominant disorder caused by the mutations in genes encoding for connexin channels proteins in the epidermis |
- P - 3, Q - 1, R - 5, S - 2
- P - 5, Q - 1, R - 4, S - 2
- P - 3, Q - 4, R - 5, S - 2
- P - 2, Q - 3, R - 4, S - 1
- P - 1, Q - 4, R - 5, S - 3
Which of the following is a genetic disorder that causes varying degrees of deafness, minor defects in structures and pigmentation inconsistencies?
- Witkop syndrome
- Griscelli syndrome
- Waardenburg syndrome
- Neurofibromatosis type I
- Ichthyosis hystrix
Which of the following is a rare congenital disorder of the skin that is caused by a mutation in the KIND1 gene?
- Kindler syndrome
- Mastocytosis
- Spitz's juvenile melanoma
- Piebaldism
- Ichthyosis bullosa of Siemens
Which of the following is a rare form of lipodystrophy that affects the head and then, spreads to the thorax?
- Nail-patella syndrome
- Köbberling-Dunnigan syndrome
- Barraquer-Simons syndrome
- Muir-Torre syndrome
- Wermer's syndrome