GENERAL PATHOLOGY Flashcards
Liquefaction necrosis is most commonly found in the:
A. Kidney
B. Liver
C. Brain
D. Heart
C. Brain
Explanation:
Liquefaction necrosis is a type of necrosis where enzymatic digestion of dead cells occurs, leading to softening and liquefaction of the affected tissue. It is most commonly seen in the brain due to the high lipid content and lack of fibrous connective tissue.
Causes:
- Ischemic stroke (cerebral infarction)
- Bacterial or fungal infections (e.g., abscess formation)
Why the other options are incorrect:
A. Kidney ❌
The kidney more commonly undergoes coagulative necrosis due to ischemia.
B. Liver ❌
The liver typically undergoes coagulative necrosis or fatty necrosis in conditions like hepatitis or ischemic injury.
D. Heart ❌
The heart undergoes coagulative necrosis after myocardial infarction, not liquefaction necrosis.
Osteoporosis, metastatic calcifications, renal stones, increase serum calcium level are manifestations of:
A. Hyperadrenalism
B. Hyperparathyroidism
C. Hypoparathyroidism
D. Hyperthyroidism
B. Hyperparathyroidism
Explanation:
Hyperparathyroidism is a condition characterized by excessive secretion of parathyroid hormone (PTH), which regulates calcium and phosphate metabolism.
Excess PTH leads to:
- Increased bone resorption → Osteoporosis
- Increased serum calcium levels (hypercalcemia)
- Metastatic calcifications (calcium deposition in soft tissues)
- Renal stones (calcium kidney stones due to excess calcium excretion)
Why the other options are incorrect:
A. Hyperadrenalism (Cushing’s Syndrome) ❌
Causes excessive cortisol production, leading to osteoporosis, but not hypercalcemia or renal stones.
C. Hypoparathyroidism ❌
Causes low PTH levels, leading to hypocalcemia (not hypercalcemia), muscle spasms, and tetany.
D. Hyperthyroidism ❌
Increases metabolism but does not directly cause hypercalcemia, osteoporosis, or renal stones.
Gustatory sweating is the chief symptom in
A. Bell’s palsy
B. Meniere’s disesse
C. Orolingual paresthesia
D. Auriculotemporal syndrome
E. Glossopharyngeal neuralgia
D. Auriculotemporal syndrome
Explanation:
Auriculotemporal syndrome (Frey’s syndrome) is a condition characterized by gustatory sweating, where sweating and flushing occur on the cheek, temple, or ear region while eating.
- It is caused by misdirected nerve regeneration after damage to the auriculotemporal nerve (a branch of CN V3 - mandibular nerve).
- Often follows parotid gland surgery, trauma, or infection, leading to crossed connections between parasympathetic (salivary) and sympathetic (sweat) fibers.
Why the other options are incorrect:
A. Bell’s palsy ❌
Sudden facial paralysis due to facial nerve (CN VII) dysfunction; does not cause gustatory sweating.
B. Ménière’s disease ❌
Inner ear disorder causing vertigo, hearing loss, tinnitus, and ear pressure, not gustatory sweating.
C. Orolingual paresthesia ❌
Tingling or burning sensation in the tongue/mouth, often due to allergic reactions, trauma, or vitamin deficiencies.
E. Glossopharyngeal neuralgia ❌
Severe pain in the throat, ear, or tongue due to glossopharyngeal nerve (CN IX) irritation; no sweating symptoms.
The following may be transmitted from mother to fetus except one. Which is it?
A. Hepatitis B
B. HIV
C. Rubeola
D. HSV
C. Rubeola
Explanation:
Rubeola (Measles) is not typically transmitted from mother to fetus via vertical transmission. Instead, it is spread via respiratory droplets. However, if a pregnant woman contracts measles, complications like preterm labor, low birth weight, or miscarriage can occur.
Why the other options are correct (can be transmitted from mother to fetus):
A. Hepatitis B ✅
Can be transmitted transplacentally or during delivery if the mother has an active infection (vertical transmission).
B. HIV ✅
Can be transmitted transplacentally, during childbirth, or through breastfeeding.
D. HSV (Herpes Simplex Virus) ✅
Can be transmitted during vaginal delivery if the mother has active genital herpes (neonatal herpes).
Key Point:
Although rubella (German measles) can be transmitted transplacentally and cause congenital rubella syndrome (CRS), rubeola (measles) does not typically cross the placenta.
It is the stage of syphilis presenting non-painful lesions known as chancre sores
A. Primary
B. Secondary
C. Latent
D. Tertiary
A. Primary
Explanation:
Primary syphilis is the first stage of Treponema pallidum infection and is characterized by:
- The appearance of a painless ulcer (chancre) at the site of infection (genitals, mouth, rectum, etc.).
- The chancre heals spontaneously within 3–6 weeks, even without treatment.
- Highly infectious stage.
Why the other options are incorrect:
B. Secondary ❌
Occurs weeks to months later, featuring rash (palms/soles), mucous patches, and condyloma lata.
C. Latent ❌
Asymptomatic phase where the bacteria remain in the body without symptoms but can still be detected in blood tests.
D. Tertiary ❌
Develops years later and causes gummas, neurosyphilis, and cardiovascular complications.
All of the following are histopathologic feature of malignant cells except one. Which one is the exception?
A. Anaplasia
B. Pleomorphism
C. Aneuploidy
D. Large nuclei
E. Low-nuclear cytoplasmic ratio
E. Low nuclear-cytoplasmic ratio
Explanation:
Malignant cells typically exhibit a high nuclear-cytoplasmic (N/C) ratio, meaning the nucleus is large relative to the cytoplasm due to increased DNA content and rapid proliferation.
Why the other options are correct (features of malignancy):
A. Anaplasia ✅
Loss of differentiation and cellular organization, making cells look primitive and abnormal.
B. Pleomorphism ✅
Variation in size and shape of cells and nuclei, indicating genetic instability.
C. Aneuploidy ✅
Abnormal chromosome number due to defective mitotic control.
D. Large nuclei ✅
Malignant cells have enlarged, hyperchromatic nuclei with prominent nucleoli, signifying increased DNA activity.
Key Point:
Malignant cells DO NOT have a low nuclear-cytoplasmic ratio—instead, they have a high N/C ratio, making E the exception.
Guarneri bodies are seen in what type of virus.
A. Adenovirus
B. Poxvirus
C. Herpes Simplex Virus
D. Yellow Fever Virus
B. Poxvirus
Explanation:
Guarnieri bodies are intracytoplasmic inclusion bodies seen in cells infected with Poxviruses, particularly Variola virus (Smallpox) and Vaccinia virus.
- These are sites of viral replication and can be detected in skin lesions of smallpox patients.
- They appear as eosinophilic inclusions in the cytoplasm of infected cells.
Why the other options are incorrect:
A. Adenovirus ❌
Forms intranuclear inclusion bodies, not Guarnieri bodies.
C. Herpes Simplex Virus (HSV) ❌
Produces Cowdry type A inclusion bodies, which are intranuclear.
D. Yellow Fever Virus ❌
Causes Councilman bodies (apoptotic hepatocytes) in the liver, not Guarnieri bodies.
Key Point:
Guarnieri bodies = Poxvirus (Smallpox, Vaccinia) ✅
Berry Aneurysm is MOST commonly caused by
A. Trauma
B. Syphilis
C. Arteriosclerosis
D. Congenital Anomaly
E. None of the above
D. Congenital Anomaly
Explanation:
Berry aneurysms (also called saccular aneurysms) are the most common type of intracranial aneurysm and typically occur at arterial branch points in the circle of Willis.
- They are not present at birth but develop over time due to congenital weakness in the arterial wall.
- The absence of a tunica media and defective elastic lamina predispose certain people to aneurysm formation.
- Risk factors include hypertension, smoking, and genetic conditions (e.g., polycystic kidney disease, Ehlers-Danlos syndrome).
- Rupture leads to subarachnoid hemorrhage, classically presenting with a “thunderclap” headache (worst headache of life).
Why the other options are incorrect:
A. Trauma ❌
Trauma can cause dissecting aneurysms, but not berry aneurysms.
B. Syphilis ❌
Tertiary syphilis causes endarteritis of the vasa vasorum, leading to aortic aneurysms, not berry aneurysms.
C. Arteriosclerosis ❌
Affects large arteries like the aorta, leading to fusiform aneurysms, not the small, branch-point aneurysms seen in berry aneurysms.
Key Point:
Berry aneurysms are most commonly due to congenital defects in the arterial wall, developing over time and leading to subarachnoid hemorrhage if ruptured. ✅
The sudden obstruction of some part of the vascular system through the impaction of undissolved material carried there by the blood current is known as
A. Embolism
B. Infection
C. Infarction
D. Thrombosis
E. Organization
A. Embolism
Explanation:
Embolism refers to the sudden obstruction of a blood vessel due to the impaction of undissolved material (an embolus) carried by the bloodstream.
- The embolus can be composed of blood clots (thromboembolism), fat (fat embolism), air (air embolism), amniotic fluid, tumor cells, or foreign material.
- It commonly causes ischemia and infarction in downstream tissues.
- Common sites of embolism: Lungs (pulmonary embolism) and brain (stroke due to cerebral embolism).
Why the other options are incorrect:
B. Infection ❌
Refers to invasion by microorganisms; does not involve vascular obstruction.
C. Infarction ❌
Tissue death due to lack of blood supply, often caused by embolism or thrombosis.
D. Thrombosis ❌
Formation of a blood clot (thrombus) within a blood vessel; a thrombus can break off and become an embolus.
E. Organization ❌
A process where a thrombus is replaced by connective tissue to restore blood flow.
Key Point:
Embolism = Sudden blockage of a blood vessel by undissolved material traveling in the bloodstream. ✅
Staging of malignancies is of value in determining the
A. Etiology
B. Prognosis
C. Diagnosis
D. Pathogenesis
E. Differentiation
B. Prognosis
Explanation:
Staging of malignancies is used to determine how far the cancer has spread, which is crucial for predicting prognosis and deciding on treatment strategies.
The most commonly used system is the TNM staging system:
- T (Tumor size and extent)
- N (Lymph Node involvement)
- M (Metastasis)
- Higher stages (e.g., Stage IV) generally indicate worse prognosis, while lower stages (e.g., Stage I) indicate a better prognosis.
Why the other options are incorrect:
A. Etiology ❌
Staging does not identify causes of cancer.
C. Diagnosis ❌
Diagnosis is made through biopsy, imaging, and pathology reports, not staging.
D. Pathogenesis ❌
Refers to mechanisms of disease development, which staging does not assess.
E. Differentiation ❌
Grading, not staging, measures how well cancer cells resemble normal tissue.
Key Point:
Staging is primarily used to determine the prognosis and guide treatment decisions. ✅
Small pin-point hemorrhages that occur on the skin are
A. Purpura
B. Hematomas
C. Petechiae
D. Ecchymosis
E. Any of these
C. Petechiae
Explanation:
Petechiae are small, pinpoint hemorrhages (<2 mm) that occur due to bleeding from capillaries or small blood vessels into the skin or mucous membranes.
- They do not blanch when pressed because the blood is outside the vessels.
- Causes include platelet disorders (e.g., thrombocytopenia), vasculitis, infections (e.g., meningococcemia), or trauma (e.g., prolonged straining).
Why the other options are incorrect:
A. Purpura ❌
Larger than petechiae (2-10 mm) and may be due to vascular or platelet disorders.
B. Hematomas ❌
Localized collections of blood in tissues, larger and more swollen than petechiae.
D. Ecchymosis ❌
Bruises (>1 cm) caused by trauma or clotting disorders.
E. Any of these ❌
Only petechiae specifically refer to pinpoint hemorrhages.
Key Point:
Petechiae = Small, pinpoint hemorrhages (<2 mm), usually due to platelet disorders or capillary fragility. ✅
Following injury, which tissue restores functional capacity by hypertrophy
A. Liver
B. Adrenal cortex
C. Cardiac muscle
D. Peripheral nerve
E. Skin of the trunk
C. Cardiac muscle
Explanation:
After injury, cardiac muscle restores functional capacity primarily by hypertrophy because cardiac myocytes are permanent cells that do not regenerate effectively.
- Instead of undergoing hyperplasia (cell division), cardiac muscle cells increase in size (hypertrophy) to compensate for lost function.
- This occurs in conditions like hypertension or myocardial infarction, where remaining healthy myocytes enlarge to maintain cardiac output.
Why the other options are incorrect:
A. Liver ❌
The liver regenerates via hyperplasia (mitotic division of hepatocytes), not hypertrophy.
B. Adrenal cortex ❌
Undergoes both hyperplasia and hypertrophy in response to increased ACTH stimulation.
D. Peripheral nerve ❌
Nerves regenerate via axon regrowth, not hypertrophy.
E. Skin of the trunk ❌
Regenerates via hyperplasia of epithelial cells after injury.
Key Point:
Cardiac muscle compensates for injury by hypertrophy because it lacks regenerative capacity. ✅
Cullen’s sign and Turner’s sign are usually associated with of the following conditions?
A. Acute Pancreatitis
B. Appendicitis
C. Gastroenteritis
D. Oophoritis
A. Acute Pancreatitis
Explanation:
Cullen’s sign and Turner’s sign are both ecchymotic discolorations caused by retroperitoneal hemorrhage, commonly seen in severe acute pancreatitis.
- Cullen’s sign: Bluish discoloration around the umbilicus due to hemorrhagic tracking from the pancreas.
- Grey Turner’s sign: Bluish discoloration of the flanks, indicating retroperitoneal bleeding.
These signs suggest severe necrotizing pancreatitis with possible hemorrhagic complications.
Why the other options are incorrect:
B. Appendicitis ❌
Presents with McBurney’s point tenderness and rebound tenderness, not Cullen’s or Turner’s signs.
C. Gastroenteritis ❌
Causes diarrhea, nausea, and vomiting, but no retroperitoneal bleeding.
D. Oophoritis ❌
Inflammation of the ovaries, typically presents with pelvic pain and fever, not hemorrhagic discoloration.
Key Point:
Cullen’s and Turner’s signs are classic indicators of hemorrhagic pancreatitis. ✅
Lymphangioma is most closely related to
A. Hemangioma
B. Angiosarcoma
C. Cystic Hygroma
D. Hemangiopericytoma
C. Cystic Hygroma
Explanation:
Lymphangioma is a benign tumor of lymphatic vessels, and cystic hygroma is a large, congenital lymphangioma that typically occurs in the neck or axilla, often associated with genetic syndromes like Turner syndrome.
- Cystic hygromas are a subtype of lymphangioma, characterized by large, cystic spaces filled with lymph.
- They arise due to failure of lymphatic drainage during fetal development.
Why the other options are incorrect:
A. Hemangioma ❌
Hemangiomas are vascular tumors of blood vessels, not lymphatic vessels.
B. Angiosarcoma ❌
Angiosarcomas are malignant tumors of blood vessels, unlike benign lymphangiomas.
D. Hemangiopericytoma ❌
A rare vascular tumor arising from pericytes, not lymphatic vessels.
Key Point:
Lymphangioma is most closely related to cystic hygroma, a large congenital lymphatic malformation. ✅
The metabolic pathway that converts arachidonic acid into prostaglandins, prostacyclin, and thromboxanes.
A. Lipoxygenase
B. Cyclooxygenase
C. Pentose-phosphate
D. HMG-CoA reductase
B. Cyclooxygenase
Explanation:
The Cyclooxygenase (COX) pathway is responsible for converting arachidonic acid into prostaglandins, prostacyclin, and thromboxanes.
- COX-1: Constitutively expressed, involved in normal physiological functions (e.g., gastric protection, platelet aggregation).
- COX-2: Induced during inflammation, producing prostaglandins that mediate pain and fever.
Why the other options are incorrect:
A. Lipoxygenase ❌
Converts arachidonic acid into leukotrienes, not prostaglandins or thromboxanes.
C. Pentose-phosphate ❌
Involved in NADPH production and ribose-5-phosphate synthesis, not prostaglandin formation.
D. HMG-CoA reductase ❌
Regulates cholesterol biosynthesis, not arachidonic acid metabolism.
Key Point:
The cyclooxygenase (COX) pathway converts arachidonic acid into prostaglandins, prostacyclin, and thromboxanes. ✅
All of the following are features of Albers-Schonberg disease EXCEPT one. Which one is the exception?
A. Anemia
B. Multiple bone fracture
C. Decreased bone density
D. Blindness
E. Deafness
C. Decreased bone density
Explanation:
Albers-Schönberg disease, also known as osteopetrosis, is a rare genetic disorder characterized by abnormally increased bone density due to defective osteoclast function.
Features of Osteopetrosis (Albers-Schönberg Disease):
✅ A. Anemia – Due to narrowing of the bone marrow space, leading to reduced hematopoiesis.
✅ B. Multiple bone fractures – Despite increased bone density, the bones are brittle and prone to fractures.
❌ C. Decreased bone density – Incorrect, because osteopetrosis causes increased bone density (osteosclerosis).
✅ D. Blindness – Caused by cranial nerve compression due to thickened skull bones.
✅ E. Deafness – Also due to nerve compression, particularly affecting the auditory nerve.
Key Point:
Osteopetrosis leads to increased bone density, not decreased bone density. ✅
Hepatitis C virus infection is MOST often transmitted through
A. Sexual contact
B. Oral secretions
C. Blood transfusions
D. The fecal-oral route
E. Respiratory droplets
C. Blood transfusions
Explanation:
Hepatitis C virus (HCV) is primarily transmitted through blood-to-blood contact. The most common routes include:
- Blood transfusions (especially before screening methods improved in the 1990s)
- IV drug use (sharing needles)
- Needlestick injuries in healthcare settings
- Sharing contaminated medical equipment (e.g., tattoo needles, razors, syringes)
Why the other options are incorrect:
A. Sexual contact ❌
Less common compared to Hepatitis B; risk increases with multiple partners or coexisting HIV.
B. Oral secretions ❌
HCV is not spread efficiently through saliva.
D. The fecal-oral route ❌
Hepatitis A and E are transmitted this way, not Hepatitis C.
E. Respiratory droplets ❌
HCV is not an airborne virus; it requires direct blood contact.
Key Point:
HCV is primarily transmitted through blood transfusions and IV drug use. ✅
Nephrolithiasis is most likely to be associated with which of the following conditions?
A. Hyperparathyroidism
B. Myxedema
C. Pyelonephritis
D. Wilson’s disease
E. Thrombocytopenia
A. Hyperparathyroidism ✅
Explanation:
Nephrolithiasis (kidney stones) is strongly associated with hyperparathyroidism because of increased calcium levels in the blood and urine, leading to the formation of calcium-containing kidney stones (e.g., calcium oxalate and calcium phosphate stones).
How Hyperparathyroidism Causes Kidney Stones:
↑ Parathyroid hormone (PTH) → ↑ Blood calcium (hypercalcemia)
↑ Urinary calcium excretion (hypercalciuria) → Formation of kidney stones
Why the other options are incorrect:
B. Myxedema (severe hypothyroidism) ❌
Does not cause kidney stones; instead, it leads to fluid retention and decreased metabolism.
C. Pyelonephritis ❌
A kidney infection, but not a direct cause of kidney stones. However, struvite stones may form due to chronic infections.
D. Wilson’s disease ❌
A disorder of copper metabolism, associated with liver and neurological issues, not kidney stones.
E. Thrombocytopenia ❌
A condition of low platelets, leading to bleeding issues, but not stone formation.
Key Point:
Hyperparathyroidism increases calcium levels, leading to kidney stone formation. ✅
Hairy leukoplakia affects the tongue and is due to
A. Fungal Infection
B. HIV Infection
C. Tobacco Chewing
D. Prolong Antibiotic Therapy
B. HIV Infection
Explanation:
Hairy leukoplakia is a white, corrugated lesion that typically appears on the lateral borders of the tongue and is strongly associated with Epstein-Barr Virus (EBV) infection, especially in HIV/AIDS patients. It is considered an opportunistic infection and is an early indicator of immune suppression.
Why the other options are incorrect?
A. Fungal Infection (e.g., Candidiasis) ❌
Oral candidiasis can also cause white lesions, but these are typically removable (unlike hairy leukoplakia).
C. Tobacco Chewing ❌
Tobacco use can lead to leukoplakia, but it is typically homogeneous and non-hairy.
D. Prolonged Antibiotic Therapy ❌
Can lead to fungal overgrowth (oral candidiasis), but not hairy leukoplakia.
Key Point:
Hairy leukoplakia is caused by Epstein-Barr virus (EBV) and is commonly seen in HIV/AIDS patients. ✅
The “jigsaw puzzle” appearance of bone ie peculiar to:
A. Osteitis deformans
B. Fibrous Dysplasia
C. Ossifying fibroma
D. Osteogenic Sarcoma
A. Osteitis deformans
Explanation:
Osteitis deformans, also known as Paget’s disease of bone, is characterized by abnormal bone remodeling with a distinct “jigsaw puzzle” or “mosaic” pattern of lamellar bone on histology. This results from a disorganized arrangement of cement lines due to excessive bone resorption followed by chaotic bone formation.
Why the other options are incorrect?
B. Fibrous Dysplasia ❌
Shows a “ground glass” radiographic appearance, not a mosaic pattern.
C. Ossifying Fibroma ❌
Characterized by a well-demarcated radiolucency with areas of calcification, but not a jigsaw/mosaic pattern.
D. Osteogenic Sarcoma (Osteosarcoma) ❌
Presents with Codman’s triangle and sunburst periosteal reaction, but not a mosaic bone pattern.
Key Point:
The “jigsaw puzzle” or “mosaic” appearance of bone is a hallmark of Paget’s disease (Osteitis deformans). ✅
A metabolic disorder characterized by massive accumulation of glycogen in the liver and kidney and its ability to be immobilized is known as
A. Von Recklinghausen’s disease
B. Wilson’s disease
C. Von Gierke’s disease
D. Kimmelstiel-Wilson’s
C. Von Gierke’s Disease
Explanation:
Von Gierke’s disease (Glycogen Storage Disease Type I, GSD I) is a metabolic disorder caused by a deficiency of glucose-6-phosphatase (G6Pase). This leads to:
- Massive accumulation of glycogen in the liver and kidneys
- Inability to mobilize glycogen for energy
- Severe fasting hypoglycemia
- Hepatomegaly (enlarged liver)
- Lactic acidosis, hyperlipidemia, and hyperuricemia
Why the other options are incorrect?
A. Von Recklinghausen’s disease ❌
Refers to Neurofibromatosis type 1 (NF1), a genetic disorder affecting nerve tissue, not glycogen metabolism.
B. Wilson’s disease ❌
A disorder of copper metabolism, leading to accumulation in the liver, brain, and cornea (Kayser-Fleischer rings), not glycogen accumulation.
D. Kimmelstiel-Wilson disease ❌
Refers to diabetic nephropathy, characterized by nodular glomerulosclerosis, not glycogen storage disorder.
Key Point:
Von Gierke’s disease (GSD I) leads to massive glycogen accumulation in the liver and kidneys due to glucose-6-phosphatase deficiency. ✅
Bifid ribs, multiple radiolucent lesions of the maxilla and the mandible, multiple skin lesions and calcification of the falx cerebri are characteristics of
A. Horner’s syndrome
B. Gardner’s syndrome
C. Sturge-Weber Syndrome
D. Peutz-Jeghers syndrome
E. Basal cell nevus syndrome
B. Gardner’s syndrome
C. Sturge-Weber Syndrome
D. Peutz-Jeghers syndrome
E. Basal cell nevus syndrome
ChatGPT said:
The correct answer is:
E. Basal Cell Nevus Syndrome (Gorlin-Goltz Syndrome) ✅
Explanation:
Basal Cell Nevus Syndrome (BCNS), also known as Gorlin-Goltz Syndrome, is a genetic disorder caused by mutations in the PTCH1 gene. It is characterized by:
1. Skeletal abnormalities
Bifid ribs (split or duplicated ribs)
Vertebral anomalies
- Jaw abnormalities
Multiple odontogenic keratocysts (OKCs) in the maxilla and mandible (radiolucent lesions) - Skin lesions
Multiple basal cell carcinomas (BCCs)
Epidermal cysts, palmar/plantar pits - Neurological signs
Intracranial calcifications, especially calcification of the falx cerebri
Possible mild developmental delay - Other
Ovarian fibromas, medulloblastomas in some cases
Why the other options are incorrect?
A. Horner’s Syndrome ❌
Characterized by ptosis, miosis, and anhidrosis due to sympathetic nerve damage, not associated with jaw cysts or bifid ribs.
B. Gardner’s Syndrome ❌
Associated with colorectal polyps (familial adenomatous polyposis, FAP), osteomas, and skin cysts, but no bifid ribs or falx cerebri calcifications.
C. Sturge-Weber Syndrome ❌
A vascular disorder with port-wine stains, leptomeningeal angiomas, and seizures, but no jaw cysts or bifid ribs.
D. Peutz-Jeghers Syndrome ❌
Characterized by mucocutaneous pigmentation (dark spots on lips and oral mucosa) and GI polyps, but no jaw cysts, bifid ribs, or falx cerebri calcifications.
Key Point:
Basal Cell Nevus Syndrome (Gorlin-Goltz Syndrome) is characterized by bifid ribs, multiple jaw cysts (OKCs), skin lesions, and calcification of the falx cerebri. ✅
DiGeorge syndrome is characterized by a deficiency of
A. B lymphocytes
B. T lymphocytes
C. Both B and T cells
D. Antibodies
B. T lymphocytes ✅
Explanation:
DiGeorge Syndrome (22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion in chromosome 22q11.2, leading to developmental defects, particularly affecting the thymus and parathyroid glands.
Key Features of DiGeorge Syndrome:
1. T-Cell Deficiency 🛑
Due to hypoplasia or absence of the thymus, leading to impaired T-lymphocyte maturation
Increased susceptibility to viral, fungal, and intracellular bacterial infections
- Hypocalcemia ⚡
Due to parathyroid gland hypoplasia, leading to low parathyroid hormone (PTH) and low calcium
Can cause tetany and seizures - Congenital Heart Defects ❤️
Common defects: Tetralogy of Fallot, Truncus Arteriosus, and Interrupted Aortic Arch - Craniofacial Abnormalities 👶
Cleft palate, small jaw (micrognathia), hypertelorism (wide-set eyes) - Developmental Delay and Psychiatric Disorders 🧠
Learning disabilities, ADHD, schizophrenia-like symptoms
Why the other options are incorrect?
A. B lymphocytes ❌
Not directly affected in DiGeorge Syndrome; B cells are present but may have impaired function due to lack of T-cell help.
C. Both B and T cells ❌
Only T cells are primarily deficient; B cells are present but can have secondary defects.
D. Antibodies ❌
Antibody production can be affected due to lack of T-cell help, but it is not the primary deficiency.
Key Point:
DiGeorge Syndrome primarily results in a deficiency of T lymphocytes due to thymic hypoplasia or aplasia. ✅
