Disease part 4

Question 1

Ollier disease (p. 252)

Answer 1

non hereditary disease characterized by Multiple cartilagenous masses within the medulla of bone of hands and feet, with possibility of malignant transformation
* Also called enchondromatosis

Question 2

Maffucci syndrome (p. 252)

Answer 2

Familial enchondromatosis and hemangiomas of the skin

Question 3

Paget disease (p. 252)

Answer 3

excessive bone resorption with replacement by poorly mineralized bone

• ALP is very high
• Also called osteitis deformans

Question 4

Albright syndrome (p. 253)

Answer 4

Polystotic fibrous dysplasia, Cafe au lait, and sexual percocity in women
* Fibrosis remains encased in cortical bone

Question 5

Melasma (p. 258)

Answer 5

Hyperpigmentation of the face

* Common during pregnancy and does not completely regress

Question 6

Hutchinson freckle is ……

Answer 6

premalignant lesion in sun exposed area, often in elderly patients

• Intraepidermal proliferation of atypical melanocytes
• May progress to melanoma
• Also called Lentigo maligna

Question 7

Stevens-Johnson syndrome (p. 260)

Answer 7

Severe form of erythema multiforme. Causes fever, respiratory difficulty, widespread mucocutaneous lesions, high risk of sepsis, with a risk of fatality

Question 8

Psoriasis (p. 260)

Answer 8

Unknown etiology, could be due to hormonal change, infection, trauma

• Associated with arthritis, myopathy, enteropathy
• Lesions on the knees, elbows and scalp. No mucous membrane involved
• Lesions are coral colored (red) with white scales
• Auspitz sign is diagnostic (pinpoint bleeding after scale removal)
• There is epidermal hyperplasia and hyperkeratization, with lengthening of rete ridges to a uniform depth

Question 9

Reiter syndrome (p. 239)

Answer 9

A triad of urethritis, arthritis, conjunctivitis

• Develops in response to an infection in another part of the body (cross-reactivity)
• Associated with Chlamydia infection in 70% of cases
• Symptoms like RA, geographic tongue, resolving psoriasis on the palms and soles are also possible

Question 10

Felty syndrome

Answer 10

a triad of splenomegaly, neutropenia, and rheumatoid arthritis

Question 11

Burkitt’s lymphoma (p. 245)

Answer 11

B lymphocyte cancer. Epidemic in Africa (usually in the mandible or the maxilla), sporadic in the U.S (affects GIT, ovaries, retroperitonium). Caused by EBV

• Initially, there is minimal lymphadenopathy
• More in children and young adults
• There is a sea of large cells, round nuclei, multiple nucleoli, small basophilic cytoplasm, and macrophages with ingested debris, producing “Starry Sky” pattern
• Leukemic phase is rare ??

Question 12

Nezelof syndrome

Answer 12

• Autosomal recessive
• Thymic dysplasia with normal immunoglobulins. There is absent or low level of T & B lymphocytes
• The result is immunodeficiency (infections & malignancies)

Question 13

Lesch Nyhan syndrome

Answer 13

• X linked recessive
• Deficiency of hypoxanthine-guanine phosphoribosyl transferase (purine salvage enzyme). The result is increased de novo purine synthesis & hyperuricemia

Question 14

I cell disease

Answer 14

• Autosomal recessive, Lysosomal storage disease
• Defective (N- acetylglucosamine-1-phosphotransferase) in Golgi will not be able to add the marker mannose-6-phosphate to enzymes destined to the lysosomes, with the release of these enzymes in the blood
• There is build up of molecules within the lysosomes which can not be degraded

Question 15

Alkaptonuria

Answer 15

• Autosomal recessive
• Chronic arthritis and urine that turns black when left.
• Due to defect in tyrosine and phenylalanine metabolism

Question 16

Hypertrophic pulmonary osteoarthropathy

Answer 16

Clubbing and tenderness over the distal ends of long bones and fingers/toes. Caused by bronchogenic carcinoma (other than SCC)

• There is new periosteal bone; arthritis may be present. Unknown cause
• Digital clubbing is caused by low O2

Question 17

Friedreich ataxia

Answer 17

• Autosomal recessive
• Spinocerebellar degeneration
• Ataxia and paralysis are seen in adolescence

Question 18

Alport Syndrome

Answer 18

hereditary collagen abnormality resulting in renal disease, deafness, and ocular abnormalities

Question 19

Pott disease

Answer 19

Caseating granulomas in spine from tuberculous osteomylitis