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1

A patient presents with focal symmetric palmoplantar keratoderma, thickened, hyperkeratotic fingernails and toenails with a "pincer" appearance and frequent staph and candida paronychial infections, follicular hyperkeratosis of the knees and elbows and oral leukokeratosis. The patients mother and grandfather both have similar skin findings. Which syndrome is described?
1  Jadassohn-Lewandowsky syndrome
2  Jackson-Lawler syndrome
3  Schafer-Branauer syndrome
4  Pachyonychia congenita tarda
5  None of the options are correct
 

The description above is the classic description for pachyonychia congenita (PC) type I or Jadassohn-Lewandowsky syndrome. Jackson-Lawler syndrome is PC type II, Schafer-Branauer syndrome is PC type III and pachyonychia congenita tarda is PC type IV.
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2

Eyelid string of pearls are seen in which of the following conditions?
1  Focal dermal hypoplasia
2  Lipoid proteinosis
3  Hutchinson-Gilford syndrome
4  Beare-Stevenson cutis gyrata syndrome
5  Gaucher�s disease
Lipoid proteinosis is an autosomal recessive condition characterized by yellow papules on the face and oropharynx, eyelid string of pearls, hoarse voice, verrucous nodules of elbows and knees, and bean-shaped temporal and hippocampal calcification with occasional seizures. Histologically, there are PAS+ deposits in the affected tissue.
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3

Which of the following is caused by a defect in a gap junction protein?
1  Epidermolysis bullosa simplex
2  Hailey-hailey
3  Erythrokeratoderma variabilis
4  Dyskeratosis congenita
5  Bullous ichthyosis of siemens
 

Erythrokeratoderma variabilis is also known as Mendes da Costa Syndrome. It is caused by a defect in connexin 31, a gap junction protein. EB simplex is caused by a mutation in keratins 5 & 14, Hailey-Hailey is caused by a mutation in calcium transporters, dyskeratosis congenita is caused by a defect in rRNA synthesis, and bullous icthyosis of Siemens is caused by mutations in keratin 2e.
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4

Painful crises and 'whorled' corneal opacities are seen with which of the following enzyme abnormalities?
1  Homogentisic acid oxidase
2  Alpha-galactosidase A
3  Glucocerebrosidase
4  Iduronate sulfatase
5  Glucoronidase
 

Painful crises and whorled corneal opacities are found in Fabry disease which is caused by a defect in alpha-galactosidase A. The remaining conditions do not have these findings.
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5

Which disease can clinically mimic pellagra but is inherited in an autosomal recessive fashion and is due to a defect in the transport of neutral amino acids?
1  Wilsons
2  Hemochromatosis
3  Hartnup Disease
4  Fabry
5  Gaucher's
 

The clinical manifestation of Hartnup disease is similar to that of pellagra because the resultant defect in the transport of amino acids leads to low levels of tryptophan. Since tryptophan is required to make nicotinic acid, pts with Hartnup disease manifest the same symptoms as niacin-deficient patients (pellagra).
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6

Ichthyosis hystrix is characterized by the following gene defects?
1  Keratins 1 and 9
2  Keratins 1 and 10
3  Keratins 5 and 14
4  Keratins 6 and 16
5  None of these answers are correct
 

Ichthyosis hystrix or extensive epidermal nevi occurs secondary to a somatic mosaicism for keratins 1 and 10. If the mosaicism occurs on gonadal cells, offspring may have full blown epidermolytic hyperkeratosis (EHK).
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7

A 20-year old male with a history of pheochromocytoma and medullary thyroid cancer presents with mucosal papules. His overall body appearance is most likely to demonstrate:
1  Cushingoid features
2  Marfanoid features
3  Short stature
4  Lipodystrophy
5  Unilateral limb shortening
 

This patient has multiple endocrine neoplasia type IIb (MEN IIb) characterized by pheochromocytoma, thyroid cancer, and rare parathyroid carcinoma as well as mucosal neuromas cutaneously. These patients have a marfanoid body habitus. This syndrome is caused by the RET proto-oncogene.
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8

A patient with a port wine stain covering one enlarged leg likely has which of the following associated symptoms?
1  Lymphatic and deep venous insufficiency
2  Visceromegaly with omphalocele
3  Bilateral retinal hemangioblastomas
4  Enchondromas
5  Distichiasis
 

Klippel-Trenaunay-Weber syndrome is a sporadic condition characterized by port-wine stains typically covering one lower extremity that is enlarged with underlying lymphatic and deep venous insufficiency.
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9

The x-linked recessive type of dyskeratosis congenita is:
1  Dyskerin
2  TERC
3  CDKN2A
4  PTEN
5  Menin
 

The dyskerin gene, whose product is involved in ribosomal RNA synthesis, is mutated in X-linked recessive dyskeratosis congenita. TERC is linked with autosomal domininant transmission of the syndrome. CDKN2A is involved in familial dysplastic nevi/melanoma syndrome, PTEN in Cowden syndrome and Menin in MEN type I.
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10

The main cause of death in patients with dyskeratosis congenita is which of the following?
1  Oral squamous cell carcinoma
2  Leukemia
3  Renal cell carcinoma
4  Pancytopenia
5  Atherosclerotic heart disease
 

Dyskeratosis congenita is usually inherited in an X-recessive fashion due to mutations in the dyskerin gene, which is involved in ribosomal RNA synthesis. The less common autosomal dominant form is caused by mutations in the telomerase gene. Clinically, there is reticulated pigmentation of skin, poikiloderma, alopecia, nail atrophy, premalignant oral leukoplakia, and Fanconi-type pancytopenia resulting in early death.
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11

Beare-Stevenson cutis gyrata syndrome is linked with mutations in:
1  Fibroblast growth factor receptor 2
2  BSCL2
3  LMNA
4  ATP7A
5  None of these answers are correct
 

Beare-Stevenson ciutis gyrata syndrome has been linked to mutations in fibroblast growth factor receptor 2. This syndrome is characterized by: craniosynostosis, ciutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, prominent umbilical stump, furrowed palms and soles. Apert syndrome is also linked to this mutation. BSCL2 is linked to Berardinelli-Seip congenital lipodystrophy, LMNA to Familial partial lipodystrophy and ATP7A to Menkes kinky hair syndrome.
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12

Patients with progeria typically die of which of the following conditions?
1  Infection
2  Metastatic carcinoma
3  Atherosclerotic heart disease
4  Nail atrophy
5  Progressive systemic sclerosis
 

 

Progeria (Hutchinson-Gilford syndrome) is a sporadic condition characterized by lipoatrophy, sclerodermoid skin, alopecia, nail atrophy, craniomegaly with small face, muscle/bone wasting, and severe premature atherosclerosis resulting in early death.
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13

Mutations in which of the following receptors underlie chronic mucocutaneous candidiasis disease (CMCD)?
1  IL-12 receptor
2  IL-15 receptor
3  AIRE receptor
4  IL-17 receptor
5  IL-23 receptor
 

Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. Mutations in IL-17 receptor A (IL-17RA, autosomal recessive) and IL-17 receptor F (IL-17F, autosomal dominant) have been reported. IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo- and heterodimers displaying impaired, but not abolished, activity.
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14

Connexin 30 (GJB6 gene) is defective in which of the following syndromes?
1  KID syndrome
2  Vohwinkel syndrome
3  Vohwinkel syndrome variant
4  Clouston syndrome
5  Erythrokeratoderma variabilis
 

Clouston syndrome is associated with a defect in Connexin 30 (GJB6 gene). Findings include palmoplantar keratoderma with transgradiens, dystrophic nails, sparse hair with absent body, eyelash, eyebrow hair after puberty. KID syndrome and Vohwinkel syndrome are associated with a defect in Connexin 26 (GJB2). Vohwinkel syndrome variant is associated with a loricrin defect. Erythrokeratoderma variabilis has mutations in Connexin 31 (GJB3) and 30.3(GJB4).
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15

Ectopia lentis (downward displacement of the lens) is characteristic of:
1  Marfan syndrome
2  Homocystinuria
3  Phenylketonuria
4  Multiple Carboxylase deficiency
5  Ehlers-Danlos syndrome
 

 

Ectopia lentis (downward displacement) is seen in homocystinuria. Upward displacement is seen in Marfan syndrome. There are no changes in the lens in phenylketonuria or multiple carboxylase deficiency.
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16

Epistaxis in early childhood to teens followed by multiple cutaneous and gastrointestinal telangectasias describes which of the following syndromes?
1  Hereditary Hemorrhagic Telangiectasia syndrome
2  Maffucci syndrome
3  CREST syndrome
4  Ataxia telangectasia
5  Fabry disease
 

Hereditary Hemorrhagic Telangiectasia syndrome is described above. The first signs in over 50% of cases is epistaxis in childhood to young adulthood. Telangectiasias develop in the 30's and 40's. Other findings include gastrointestinal telangiectasia, hepatic and pulmonary arteriovenous malformations. The other syndromes listed can have cutaneous vascular lesions and should be considered on the differential for hereditary hemorrhagic telangiectasia syndrome.
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17

Adenosine deaminase deficiency is seen in which immunodeficient disease?
1  Wiskott-Aldrich syndrome
2  Chronic granulomatous disease
3  Job syndrome
4  Severe combined immunodeficiency syndrome
5  Leineri's disease
 

Severe combined immunodeficiency is a heterogeneous group of disorders characterized by decreased humoral and cell mediated immunity. Patients may have recurrent infections including cutaneous ones, GVHD (due to in utero cmaternal lymphocytes), sepsis, oral candidiasis, and diarrhea. Implicated genes include the IL-2 receptor (x-linked recessive form) and adenosine deaminase deficiency (autosomal recessive form).
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18

Ichthyosis with confetti is a severe, sporadic ichthyosis caused by mutations in which gene?
1  Keratin 1
2  Keratin 2e
3  Keratin 10
4  Keratin 14
5  Keratin 15
 

Ichthyosis with confetti, a severe, sporadic skin disease in humans, is caused by mutations in the gene encoding keratin 10 (KRT10); all result in frameshifts into the same alternative reading frame, producing an arginine-rich C-terminal peptide that redirects keratin 10 from the cytokeratin filament network to the nucleolus.
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19

Findings of eyelid papules (string of pearls) and a hoarse cry in infants is characteristic of which of the following syndromes?
1  Lipoid proteinosis
2  Amyloidosis
3  Pseudoxanthoma elasticum
4  Disseminated xanthomas
5  None of these answers are correct
 

Findings of the eyelid string of pearls and a hoarse cry during the first years of life (due to vocal cord infiltration) is characteristic of Lipoid Proteinosis (AKA Urbach-Wiethe disease or Hyalinosis cutis et mucosae). It is an autosomal recessive condition with mutations in the extracellular matrix protein 1 gene. Other findings include calcifications of the temporal lobe and hippocampus, hairloss, atrophic scars and waxy papules on the face, verrucous nodules and a thick tongue. The other conditions could be considered on the differential for Lipoid Proteinosis, but do not have the findings described above.
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20

What is the most likely syndrome that this woman has in this photograph?
1  A. Klippel Trenaunay Weber
2  Filariasis
3  Neurofibromatosis
4  Proteus syndrome
5  Turner syndrome
 

Klippel-Trenaunay Weber syndrome is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. Filariasis is an acquired infection that leads to obstruction and scarring of the lymphatics. Neurofibromatosis is associated with neurofibromas, café-au-lait macules and Lisch nodules, but not with lymphedema and vascular malformations. Proteus syndrome is associated with vascular abnormalities, lipomas and asymmetric limb hyperplasia, and plantar connective tissue nevi, but usually not lymphedema. Lymphedema of the dorsal hands and feet can be seen in Turner syndrome, but typically not this extensive.
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21

Which of the following is not classically associated with pheochromoctyoma?
1  Multiple Endocrine Neoplasia Type IIA
2  Multiple Endocrine Neoplasia Type IIB
3  Von-Hippel-Lindau Syndrome
4  Cobb Syndrome
5  Neurofibromatosis
 

Cobb syndrome is a sporadic disease characterized by cutaneous vascular malformations associated with malformations of the spinal cord.
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22

Which of the following medications is a teratogen associated with a aplasia cutis congenita?
1  Propranolol
2  Methimazole
3  Lithium
4  Alcohol
5  Warfarin
 

Aplasia cutis congenita is characterized by well-demarcated erosions at birth that heal with atrophic, alopecic scars. Some cases are caused by medications, with methimazole considered a teratogen particularly associated with this condition.
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23

Palmoplantar keratoderma with deafness is caused by a defect in which gene?
1  SLURP-1
2  Plakophilin
3  Mitochondrial serine transferase RNA
4  Lysosomal papain like cysteine proteinase
5  Unknown
 

Palmoplantar keratoderma with deafness is caused by a defect in mitochondrial serine transferase RNA. A defect in SLURP-1 causes Mal de Meleda. A defect in plakophilin causes ectodermal dysplasia with skin fragility. A defect in cathepsin C lysososomal papain like cysteine proteinase causes Papillon LeFevre and Haim Munk.
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24

Junctional epidermolysis bullosa with pyloric atresia is associated with mutations in:
1  The alpha-6 subunit of integrin
2  The beta-4 subunit of integrin
3  Both subunits of integrin can have mutations causing this type of junctional epidermolysis bullosa
4  Plectin
5  Laminin 5
 

Both subunits of integrin can have mutations causing this type of junctional epidermolysis bullosa. Plectin is associated with epidermolysis bullosa simplex with muscular dystrophy. Laminin 5 is mutated in Herlitz and non-Herlitz types of junctional epidermolysis bullosa.
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25

What cutaneous manifestation is associated with familial cerebral cavernomas?
1  Verrucous hemangioms
2  Glomeruloid hemangiomas
3  hyperkeratotic cutaneous capillary-venous malformations(HCCVM)
4  segmental facial hemangiomas
5  Tufted angiomas
 

Familial cerebral cavernomas are due to a defect in the CCM gene which encodes the KRIT-1 protein. These patients often times have hyperkeratotic cutaneous capillary-venous malformations.
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26

Which of the following conditions is inherited in an X-linked dominant (XD) manner?
1  Chodrodysplasia punctata
2  CHILD Syndrome
3  Focal dermal hypoplasia
4  All of the answers are correct
5  None of the answers are correct
 

All of the syndromes listed are XD. Other XD syndromes are: Incontinentia pigmenti and Bazex syndrome.
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27

Maffucci syndrome is has characteristic venous malformations of the distal extremities and benign endochondromas which can compromise bone strength and lead to chondrosarcomas. The defect causing this believed to be the PTH/PTHrP type I receptor which is inherited in which manner?
1  Sporadic
2  Autosomal dominant
3  Autosomal recessive
4  X-linked dominant
5  X-linked recessive
 

Maffucci syndrome is inherited in a sporadic manner.
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28

Most common malignancy to develop in a patient with tricholemmomas, acral verrucous papules and cobble-stoning of buccal and gingival mucosa?
1  Thyroid cancer
2  Breast cancer
3  Colon cancer
4  Lymphoma
5  Melanoma
 

Cowden's syndrome is an autosomally dominant inherited defect of PTEN. Patient may present with multiple trichilemmoma, hamartomatous tumors of the breast, thyroid and endometrium, acral keratoses and papillomatous papules. Breast cancer is the most common cancer to arise while thyroid carcinoma is the second most common.
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29

Which of the following are cutaneous features of Marfan syndrome?
1  Loose skin and crumpled ears
2  Dermatofibrosis lenticularis and striae
3  Fat herniation and cutaneous atrophy
4  Sclerodermoid changes and dyspigmentation
5  Striae and elastosis perforans serpiginosa
 

Marfan syndrome is an autosomal dominant disorder caused by mutations in fibrillin 1 and 2. Patients have tall stature, arachnodactyly, pectus excavatum, high-arched palate, joint laxity, ectopia lentis with upward dislocation, dilated aorta with rupture, mitral valve prolapse, striae, and elastosis perforans serpiginosa.
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30

Which of the following is caused by a defect in cathepsin C?
1  Rubenstein-Taybi
2  Bullous Icthyosis of Siemens
3  Muir-Torre
4  Papillon-Lefevre
5  Nail-Patella syndrome
 

Papillon-Lefevre is a palmoplantar keratoderma caused by a mutation in chromosome 11q14, leading to a defect in Cathepsin C, a lysosomal enzyme. Clinical manifestations of papillon lefevre include sharply demarcated palmoplantar keratoderma with extension to dorsal surface (transgrediens), spare hair, periodontitis, and pyoderma.
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