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Pathology - Cri-du-Chat Syndrome
caused by a chromosome 5p partial deletion.
happens once every 50,000 live births.
severe delays in development; microcephaly; facial deformities (hypertelorism, low-set ears, and micrognathia); inability to thrive; and heart problems (PDA, VSD, ASD, etc.).
The disorder's name originates from the distinctive high-pitched, cat-like howl that patients exhibit.
genetic counseling and supportive treatment.
Williams syndrome is brought on by a 7q chromosomal deletion. In addition to endocrinologic anomalies, it manifests as a slight developmental delay with some autistic symptoms, recurrent otitis media, early cataracts, and failure to thrive.
caused by a chromosome 5p partial deletion.
happens once every 50,000 live births.
severe delays in development; microcephaly; facial deformities (hypertelorism, low-set ears, and micrognathia); inability to thrive; and heart problems (PDA, VSD, ASD, etc.).
The disorder's name originates from the distinctive high-pitched, cat-like howl that patients exhibit.
genetic counseling and supportive treatment.
Williams syndrome is brought on by a 7q chromosomal deletion. In addition to endocrinologic anomalies, it manifests as a slight developmental delay with some autistic symptoms, recurrent otitis media, early cataracts, and failure to thrive.
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Pathology - Klinefelter Syndrome
Causes (most typically 47, XXY karyotype with a single Barr body) when two or more X chromosomes combine with one or more Y chromosomes.
This genetic condition can be caused by paternal or maternal meiotic nondisjunction, but its incidence increases with maternal age. Maternal meiotic nondisjunction is the most prevalent cause of this disorder.
Tall stature; atrophic, small testes; gynecomastia and absence of secondary masculine traits; male infertility, frequently due to decreased spermatogenesis; higher rate of venous ulcers; infrequently linked to minor developmental delay.
Results of the lab: elevated levels of FSH and LH, decreased levels of testosterone.
Treatment: Start replacing testosterone when a teen reaches puberty; does not address infertility.
Tall guys with severe acne are associated with XYY syndrome. Criminals are more likely to experience XYY syndrome.
Causes (most typically 47, XXY karyotype with a single Barr body) when two or more X chromosomes combine with one or more Y chromosomes.
This genetic condition can be caused by paternal or maternal meiotic nondisjunction, but its incidence increases with maternal age. Maternal meiotic nondisjunction is the most prevalent cause of this disorder.
Tall stature; atrophic, small testes; gynecomastia and absence of secondary masculine traits; male infertility, frequently due to decreased spermatogenesis; higher rate of venous ulcers; infrequently linked to minor developmental delay.
Results of the lab: elevated levels of FSH and LH, decreased levels of testosterone.
Treatment: Start replacing testosterone when a teen reaches puberty; does not address infertility.
Tall guys with severe acne are associated with XYY syndrome. Criminals are more likely to experience XYY syndrome.
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Pathology - Squamous Cell Carcinoma of the Skin
Risk factors for this condition include long-term immunosuppression, tobacco use, arsenic exposure, excessive sun exposure (UV light), albinism, tar and ionizing radiation exposure, and faulty DNA repair pathways (e.g., xeroderma pigmentosum).
Precursor :
1)Actinic keratosis: precursor lesion; poorly defined, red, scaling lesion that occasionally forms a cutaneous horn; basal cell hyperplasia and cellular atypia; parakeratosis; presence of intercellular bridges.
2)A well-defined, red, scaling plaque or ulcerated nodule that is not penetrated by the basement membrane, cellular atypia throughout the entire epidermis, and hyperkeratosis with keratin pearls are all signs of in situ carcinoma
3)The hallmarks of invasive carcinoma include a significant anaplasia of sheets of neoplastic epidermal cells, keratinization with keratin pearls, and invasion into the basement membrane.
Small red, hard, ulcerating lump on the hands and face that develops after exposure to the sun.
Handling
surgical removal.
While less than 5% of cases metastasize (generally through lymphatic dissemination), surgery is typically curative in these cases, and the prognosis is not good.
Risk factors for this condition include long-term immunosuppression, tobacco use, arsenic exposure, excessive sun exposure (UV light), albinism, tar and ionizing radiation exposure, and faulty DNA repair pathways (e.g., xeroderma pigmentosum).
Precursor :
1)Actinic keratosis: precursor lesion; poorly defined, red, scaling lesion that occasionally forms a cutaneous horn; basal cell hyperplasia and cellular atypia; parakeratosis; presence of intercellular bridges.
2)A well-defined, red, scaling plaque or ulcerated nodule that is not penetrated by the basement membrane, cellular atypia throughout the entire epidermis, and hyperkeratosis with keratin pearls are all signs of in situ carcinoma
3)The hallmarks of invasive carcinoma include a significant anaplasia of sheets of neoplastic epidermal cells, keratinization with keratin pearls, and invasion into the basement membrane.
Small red, hard, ulcerating lump on the hands and face that develops after exposure to the sun.
Handling
surgical removal.
While less than 5% of cases metastasize (generally through lymphatic dissemination), surgery is typically curative in these cases, and the prognosis is not good.
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Pathology - Basal Cell Carcinoma
The most prevalent type of skin tumor.
Fair skin, long-term immunosuppression, prolonged sun exposure, and compromised DNA repair systems (such as xeroderma pigmentosum) are risk factors.
Skin: Nodular, cystic, and trabecular development patterns; tumor clumps surrounded by cells at the periphery with palisading nuclei; clusters of atypical tumor cells with dark blue nuclei emerging from epidermal basal cells; invades dermis.
Pearly, dome-shaped, telangiectatic papule that typically appears on sun-exposed areas (particularly the face and neck); may bleed or ulcerate; may have a rolling border surrounding a centrally depressed center.
Handling
surgical removal.
Surgery is usually curative since it seldom metastasizes.
Xeroderma pigmentosum is a condition that is recessive in nature. It is typified by mutations in the genes responsible for nucleotide excision repair, which is required to fix pyrimidine dimers created by exposure to UV light. An elevated incidence of all forms of skin cancer is one of the clinical symptoms.
The most prevalent type of skin tumor.
Fair skin, long-term immunosuppression, prolonged sun exposure, and compromised DNA repair systems (such as xeroderma pigmentosum) are risk factors.
Skin: Nodular, cystic, and trabecular development patterns; tumor clumps surrounded by cells at the periphery with palisading nuclei; clusters of atypical tumor cells with dark blue nuclei emerging from epidermal basal cells; invades dermis.
Pearly, dome-shaped, telangiectatic papule that typically appears on sun-exposed areas (particularly the face and neck); may bleed or ulcerate; may have a rolling border surrounding a centrally depressed center.
Handling
surgical removal.
Surgery is usually curative since it seldom metastasizes.
Xeroderma pigmentosum is a condition that is recessive in nature. It is typified by mutations in the genes responsible for nucleotide excision repair, which is required to fix pyrimidine dimers created by exposure to UV light. An elevated incidence of all forms of skin cancer is one of the clinical symptoms.
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Pathology - Malignant Melanoma
linked to prolonged immunosuppression, fair skin, genetic predisposition (few occurrences are family), and extensive sun exposure.
Dysplastic nevus: Iymphocytic infiltrate in mild form, longitudinal fibrosis in the dermis, precursor lesion, nests of nevus cells exhibiting cellular atypia and anaplasia inside the epidermis.
Melanoma is a skin cancer that develops in two stages and is caused by melanocytes or nevus cells.
II. Vertical growth: nodular appearance, growth into underlying dermis, does metastasize, and metastatic probability is directly proportional to depth of invasion. (I) Radial growth: discolored macule, horizontal growth of nests of atypical cells within epidermis, lymphocytic infiltrate, and melanin-containing macrophages in dermis; does not metastasize.
displays a potentially itchy pigmented lesion that is asymmetrical, has an uneven border, and contains a variety of hues.
Clinical variants include: (1) superficial spreading, which is the most common form of the lesion with an irregular border and a predominant radial growth phase without dermal invasion; (2) nodular growth phase; and (3) lentigo maligna, which develops from a precursor lesion called Hutchinson freckle and can progress to spindle-cell melanoma or desmoplastic melanoma.
Results from the lab: S-100 tumor marker is present.
Handling
For stages lb and above, surgical excision along with sentinel lymph node biopsy; chemotherapy; if metastatic disease is suspected, consider IL-2 treatment.
Metastasis is common, primarily to the liver, esophagus, meninges, eyes, and intestinal serosa.
The prognosis is especially bad for nodular variant and metastatic illness.
linked to prolonged immunosuppression, fair skin, genetic predisposition (few occurrences are family), and extensive sun exposure.
Dysplastic nevus: Iymphocytic infiltrate in mild form, longitudinal fibrosis in the dermis, precursor lesion, nests of nevus cells exhibiting cellular atypia and anaplasia inside the epidermis.
Melanoma is a skin cancer that develops in two stages and is caused by melanocytes or nevus cells.
II. Vertical growth: nodular appearance, growth into underlying dermis, does metastasize, and metastatic probability is directly proportional to depth of invasion. (I) Radial growth: discolored macule, horizontal growth of nests of atypical cells within epidermis, lymphocytic infiltrate, and melanin-containing macrophages in dermis; does not metastasize.
displays a potentially itchy pigmented lesion that is asymmetrical, has an uneven border, and contains a variety of hues.
Clinical variants include: (1) superficial spreading, which is the most common form of the lesion with an irregular border and a predominant radial growth phase without dermal invasion; (2) nodular growth phase; and (3) lentigo maligna, which develops from a precursor lesion called Hutchinson freckle and can progress to spindle-cell melanoma or desmoplastic melanoma.
Results from the lab: S-100 tumor marker is present.
Handling
For stages lb and above, surgical excision along with sentinel lymph node biopsy; chemotherapy; if metastatic disease is suspected, consider IL-2 treatment.
Metastasis is common, primarily to the liver, esophagus, meninges, eyes, and intestinal serosa.
The prognosis is especially bad for nodular variant and metastatic illness.
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Pathology - Hypersensitivity Reactions
Type I: Immediate hypersensitivity mediated by IgE.
Type II: Cytotoxic hypersensitivity caused by antibodies.
Type III: Hypersensitivity mediated by immune complex.
Type IV: Delayed hypersensitivity mediated by T cells.
Type I: Vasoactive amines are released when antigen cross-links cell-bound IgE on basophils and mast cells that have been pre-sensitized. This results in tissue inflammation, vascular permeability, vasodilation, and contraction of the smooth muscle in the viscera.
Type II: In response to antigens that are bound to cells, IgG or IgM antibodies react, activating the complement cascade and destroying the antigen-bound cell.
Type III: The complement cascade is triggered when an IgG or IgM antibody combines with circulating allergens and deposits in tissue.
Type IV: T cells are exposed to allergen, which binds to endogenous protein. Memory T cells trigger an inflammatory response when they are exposed to allergens again.
Type I: Allergic rhinitis, asthma, anaphylaxis, atopy, local wheal and flare.
Type II: Goodpasture syndrome, erythroblastosis fetalis, ARF, and immune hemolytic anemia.
Serum sickness (systemic illness fever, arthralgias, proteinuria, lymphadenopathy, and dermatitis); polyarteritis nodosa; SLE; RA; Arthus reaction (localized cutaneous and subcutaneous inflammatory response to injected allergen).
Type IV: Hypersensitivity pneumonitis and Allergic Contact Dermatitis.
corticosteroids, antihistamines, and disease-specific medications.
Type I: Immediate hypersensitivity mediated by IgE.
Type II: Cytotoxic hypersensitivity caused by antibodies.
Type III: Hypersensitivity mediated by immune complex.
Type IV: Delayed hypersensitivity mediated by T cells.
Type I: Vasoactive amines are released when antigen cross-links cell-bound IgE on basophils and mast cells that have been pre-sensitized. This results in tissue inflammation, vascular permeability, vasodilation, and contraction of the smooth muscle in the viscera.
Type II: In response to antigens that are bound to cells, IgG or IgM antibodies react, activating the complement cascade and destroying the antigen-bound cell.
Type III: The complement cascade is triggered when an IgG or IgM antibody combines with circulating allergens and deposits in tissue.
Type IV: T cells are exposed to allergen, which binds to endogenous protein. Memory T cells trigger an inflammatory response when they are exposed to allergens again.
Type I: Allergic rhinitis, asthma, anaphylaxis, atopy, local wheal and flare.
Type II: Goodpasture syndrome, erythroblastosis fetalis, ARF, and immune hemolytic anemia.
Serum sickness (systemic illness fever, arthralgias, proteinuria, lymphadenopathy, and dermatitis); polyarteritis nodosa; SLE; RA; Arthus reaction (localized cutaneous and subcutaneous inflammatory response to injected allergen).
Type IV: Hypersensitivity pneumonitis and Allergic Contact Dermatitis.
corticosteroids, antihistamines, and disease-specific medications.
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Pathology - Organ Rejection
Preformed anti-donor antibodies (such as anti-blood-type antibodies) in the recipient's bloodstream are the cause of hyperacute rejection.
Class I MHC-induced cytotoxic T-cell response is the cause of acute rejection.
Rejection that is persistent: Both antibody- and cell-mediated graft deterioration might result from prolonged immunosuppressive therapy, previous acute rejection, or co-morbidities between the donor and the recipient.
Graft-versus-host disease (GVHD): In immunocompromised recipients, grafted T-cells multiply and assault recipient host cells.
Pathology
Hyperacute: fibrin-platelet thrombi, neutrophilic infiltration, and cyanosis of the graft with necrosis.
Acute: Necrotizing vasculitis with enlarged endothelial cells and thrombosis; interstitial mononuclear infiltration with edema and hemorrhage.
Chronic: Intimal fibrosis of the graft arteries and tissue, resulting in ischemia injury and graft atrophy.
GVHD: Inflammatory harm to the GI tract, skin, liver, and immune system.
Clinical Signs and Symptoms
Hyperacute: Develops minutes to hours following transplant.
Acute: Happens over the first six months following transplant.
Chronic: Begins several months to years following transplant.
GVHD symptoms include diarrhea, liver damage, and maculopapular rash.
Handling
Both chronic and hyperacute: irreversible.
Acute: Reversible with immunosuppressive medication (cyclosporine, for example).
GVHD: Use monoclonal grafts or antithymocyte globulin on donor tissue, as well as immunosuppressive medications (such as tacrolimus and cyclosporine).
Preformed anti-donor antibodies (such as anti-blood-type antibodies) in the recipient's bloodstream are the cause of hyperacute rejection.
Class I MHC-induced cytotoxic T-cell response is the cause of acute rejection.
Rejection that is persistent: Both antibody- and cell-mediated graft deterioration might result from prolonged immunosuppressive therapy, previous acute rejection, or co-morbidities between the donor and the recipient.
Graft-versus-host disease (GVHD): In immunocompromised recipients, grafted T-cells multiply and assault recipient host cells.
Pathology
Hyperacute: fibrin-platelet thrombi, neutrophilic infiltration, and cyanosis of the graft with necrosis.
Acute: Necrotizing vasculitis with enlarged endothelial cells and thrombosis; interstitial mononuclear infiltration with edema and hemorrhage.
Chronic: Intimal fibrosis of the graft arteries and tissue, resulting in ischemia injury and graft atrophy.
GVHD: Inflammatory harm to the GI tract, skin, liver, and immune system.
Clinical Signs and Symptoms
Hyperacute: Develops minutes to hours following transplant.
Acute: Happens over the first six months following transplant.
Chronic: Begins several months to years following transplant.
GVHD symptoms include diarrhea, liver damage, and maculopapular rash.
Handling
Both chronic and hyperacute: irreversible.
Acute: Reversible with immunosuppressive medication (cyclosporine, for example).
GVHD: Use monoclonal grafts or antithymocyte globulin on donor tissue, as well as immunosuppressive medications (such as tacrolimus and cyclosporine).
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Pathology - Bruton Agammaglobulinemia
Bruton Agammaglobulinemia is a recessive X-linked tyrosine kinase gene deficiency that prevents B-cell precursors from developing into B cells.
most frequently observed in newborn boys.
Germinal centers are absent or ill-defined in lymphoid tissue.
occurs after six months of age, when levels of maternal IgG start to decrease, and manifests as recurrent pyogenic bacterial infections in boys (otitis media, sinusitis, pneumonia); cell-mediated immune function is normal.
Lab results: Absence of serum B cells and low levels of all immunoglobulin types.
routine IVIG treatment; infection management.
An X-linked recessive abnormality in the capacity to mount an IgM response to encapsulated bacteria, such as Pneumococcus, is known as Wiskott-Aldrich syndrome. Elevated IgA, low IgM, and normal IgG and total immunoglobulin levels are its defining characteristics. The patients exhibit a combination of eczema, petechiae, and bleeding due to thrombocytopenia, as well as recurring pyogenic infections. Splenectomy and bone marrow transplant are alternate supportive treatment options.
Bruton Agammaglobulinemia is a recessive X-linked tyrosine kinase gene deficiency that prevents B-cell precursors from developing into B cells.
most frequently observed in newborn boys.
Germinal centers are absent or ill-defined in lymphoid tissue.
occurs after six months of age, when levels of maternal IgG start to decrease, and manifests as recurrent pyogenic bacterial infections in boys (otitis media, sinusitis, pneumonia); cell-mediated immune function is normal.
Lab results: Absence of serum B cells and low levels of all immunoglobulin types.
routine IVIG treatment; infection management.
An X-linked recessive abnormality in the capacity to mount an IgM response to encapsulated bacteria, such as Pneumococcus, is known as Wiskott-Aldrich syndrome. Elevated IgA, low IgM, and normal IgG and total immunoglobulin levels are its defining characteristics. The patients exhibit a combination of eczema, petechiae, and bleeding due to thrombocytopenia, as well as recurring pyogenic infections. Splenectomy and bone marrow transplant are alternate supportive treatment options.
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Pathology - Common Variable Immunodeficiency
Caused by a deficiency in intrinsic B cells that stops them from maturing into plasma cells that release antibodies, which leads to insufficient secreted antibody production.
Peak onset typically occurs in late adolescence, after the ages of 1 and 5.
Pathology
Histiocytes encircle noncaseating granulomas in the skin, lungs, liver, and spleen.
increased frequency of autoimmune disorders, sprue-like GI condition, and recurring pyogenic infections, which typically impact the respiratory system.
Skin cancer, stomach carcinomas, and B-cell neoplasms are among the complications that may arise.
The results of the lab analysis show that there is a decline in IgG levels over time, affecting all antibody classes; functional antibody responses to protein antigen vaccinations are either missing or reduced; and the total number of B cells in peripheral blood is normal.
routine IVIG treatment; infection management.
The most prevalent primary immunodeficiency disease, selective lgA deficiency, is characterized by a lack of serum IgA, maybe as a result of an isotype switching problem. It manifests as lung and sinus infections, GI tract infections leading to chronic diarrhea, food allergies and other allergy illnesses (such as rhinitis or atopic dermatitis), and anaphylaxis following blood transfusions.
Caused by a deficiency in intrinsic B cells that stops them from maturing into plasma cells that release antibodies, which leads to insufficient secreted antibody production.
Peak onset typically occurs in late adolescence, after the ages of 1 and 5.
Pathology
Histiocytes encircle noncaseating granulomas in the skin, lungs, liver, and spleen.
increased frequency of autoimmune disorders, sprue-like GI condition, and recurring pyogenic infections, which typically impact the respiratory system.
Skin cancer, stomach carcinomas, and B-cell neoplasms are among the complications that may arise.
The results of the lab analysis show that there is a decline in IgG levels over time, affecting all antibody classes; functional antibody responses to protein antigen vaccinations are either missing or reduced; and the total number of B cells in peripheral blood is normal.
routine IVIG treatment; infection management.
The most prevalent primary immunodeficiency disease, selective lgA deficiency, is characterized by a lack of serum IgA, maybe as a result of an isotype switching problem. It manifests as lung and sinus infections, GI tract infections leading to chronic diarrhea, food allergies and other allergy illnesses (such as rhinitis or atopic dermatitis), and anaphylaxis following blood transfusions.
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Pathology -DiGeorge Syndrome
Caused by microdeletion on chr 22q11, which results in the failure of formation of third and fourth pharyngeal pouches.
Thyroid and parathyroid: Hypoplasia of tissue.
Pathophysiology: Thymic hypoplasia resulting in T-cell insufficiency; parathyroid hypoplasia results in hypocalcernia.
Recurrent viral, fungal, and protozoa infections; tetany (owing to hypocalcemia); congenital cardiovascular malformations (including Tetralogy of Fallot or truncus arteriosus); facial deformities including cleft palate; developmental delay.
Treatments
Fetal thymus transplanted to restore T-cell immunity in situations of severe immunodeficiency; treatment of heart abnormalities; calcium supplementation.
Chronic mucocutaneous candidiasis is a T-cell failure primarily against Candida a lbicans that manifests with Candida skin and mucous membrane infections.
Caused by microdeletion on chr 22q11, which results in the failure of formation of third and fourth pharyngeal pouches.
Thyroid and parathyroid: Hypoplasia of tissue.
Pathophysiology: Thymic hypoplasia resulting in T-cell insufficiency; parathyroid hypoplasia results in hypocalcernia.
Recurrent viral, fungal, and protozoa infections; tetany (owing to hypocalcemia); congenital cardiovascular malformations (including Tetralogy of Fallot or truncus arteriosus); facial deformities including cleft palate; developmental delay.
Treatments
Fetal thymus transplanted to restore T-cell immunity in situations of severe immunodeficiency; treatment of heart abnormalities; calcium supplementation.
Chronic mucocutaneous candidiasis is a T-cell failure primarily against Candida a lbicans that manifests with Candida skin and mucous membrane infections.
