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Pathology - Ehlers-Danlos Syndrome (EDS)
A condition that has ten distinct variations, all of which are linked to improper collagen synthesis. Autosomal dominant (types I–IV, VIIA–B, VIII), autosomal recessive (types VI, VIIC, X), and X-linked recessive (types V, IX) are the three different modes of inheritance.
Pathophysiology: When collagen is mutated, the structures it makes up become weaker. This can result in hyperextensible joints due to weak tendons, skeletal abnormalities due to aberrant bone development, and a weakened skin and vascular wall that makes an organ vulnerable to injury.
Skin: A disorganized, twisted mass of differently sized collagen strands.
Depending on the version, presentations change.
Thin, hyperextensible skin, easily bruised, hypermobile joints worsened by dislocation, weak muscles, atypical teeth, and prolapsed mitral valve are common symptoms.
Treatment: symptomatic treatment for osteoarthritis; vitamin C supplements (involved in collagen formation).
A condition that has ten distinct variations, all of which are linked to improper collagen synthesis. Autosomal dominant (types I–IV, VIIA–B, VIII), autosomal recessive (types VI, VIIC, X), and X-linked recessive (types V, IX) are the three different modes of inheritance.
Pathophysiology: When collagen is mutated, the structures it makes up become weaker. This can result in hyperextensible joints due to weak tendons, skeletal abnormalities due to aberrant bone development, and a weakened skin and vascular wall that makes an organ vulnerable to injury.
Skin: A disorganized, twisted mass of differently sized collagen strands.
Depending on the version, presentations change.
Thin, hyperextensible skin, easily bruised, hypermobile joints worsened by dislocation, weak muscles, atypical teeth, and prolapsed mitral valve are common symptoms.
Treatment: symptomatic treatment for osteoarthritis; vitamin C supplements (involved in collagen formation).
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Pathology - Albinism and Vitiligo
Albinism : Melanocytes are produced from neural crest ectoderm, hence albinism may be associated to faulty neural crest cell migration. Tyrosinase deficiency or a lack of tyrosine uptake into the melanocyte are the two main causes of this inherited inability of melanocytes to synthesize melanin.
Vitiligo: Acquired loss of melanocytes; linked to autoimmune illnesses (Addison's disease, Hashimoto thyroiditis, Grave disease, pernicious anemia); potentially brought on by an autoimmune response or by toxic intermediates of melanocyte formation.
Albinism: May affect the skin and hair (oculocutaneous albinism) or the eyes (ocular albinism); skjn_ contains melanocytes.
Albinism: Hypopigmentation affecting the eyes, skin, and hair; may result in blindness. Vitiligo: Lack of melanocytes in skin.
Vitiligo: Irregular, flat patches of skin loss that typically affect the hands, axillae, or the area surrounding the mouth and eyes. Variable presence of antibodies against antimelanocytes in the lab.
Albinism: Sunscreen is required; there is no known treatment.
Sun protection and topical corticosteroids for vitiligo.
Patients who have vitiligo or albinism are more likely to develop actinic keratoses and skin malignancies.
Albinism : Melanocytes are produced from neural crest ectoderm, hence albinism may be associated to faulty neural crest cell migration. Tyrosinase deficiency or a lack of tyrosine uptake into the melanocyte are the two main causes of this inherited inability of melanocytes to synthesize melanin.
Vitiligo: Acquired loss of melanocytes; linked to autoimmune illnesses (Addison's disease, Hashimoto thyroiditis, Grave disease, pernicious anemia); potentially brought on by an autoimmune response or by toxic intermediates of melanocyte formation.
Albinism: May affect the skin and hair (oculocutaneous albinism) or the eyes (ocular albinism); skjn_ contains melanocytes.
Albinism: Hypopigmentation affecting the eyes, skin, and hair; may result in blindness. Vitiligo: Lack of melanocytes in skin.
Vitiligo: Irregular, flat patches of skin loss that typically affect the hands, axillae, or the area surrounding the mouth and eyes. Variable presence of antibodies against antimelanocytes in the lab.
Albinism: Sunscreen is required; there is no known treatment.
Sun protection and topical corticosteroids for vitiligo.
Patients who have vitiligo or albinism are more likely to develop actinic keratoses and skin malignancies.
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Pathology - Allergic Contact Dermatitis
Type IV hypersensitivity reaction following previous interaction with an allergen substance (such as poison ivy, nickel, latex, or UV radiation) can cause dermatitis.
may exhibit a variety of skin histopathologic characteristics based on the illness's stage.
Acute stage: Vesicles; perivascular lymphocytic infiltration in epidermis; eosinophils when medication reaction is the cause; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: lymphocytic infiltration in dermis; epidermis thickening with hyper- and parakeratosis.
After being exposed to the allergen for a few days, an acute case may show up as red, wet, itchy, and crusty papules and vesicles.
If left untreated, it can lead to thicker, elevated, and poorly defined plaques that scale.
Topical corticosteroids for treatment; removing the aggravating factors.
Type IV hypersensitivity reaction following previous interaction with an allergen substance (such as poison ivy, nickel, latex, or UV radiation) can cause dermatitis.
may exhibit a variety of skin histopathologic characteristics based on the illness's stage.
Acute stage: Vesicles; perivascular lymphocytic infiltration in epidermis; eosinophils when medication reaction is the cause; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: lymphocytic infiltration in dermis; epidermis thickening with hyper- and parakeratosis.
After being exposed to the allergen for a few days, an acute case may show up as red, wet, itchy, and crusty papules and vesicles.
If left untreated, it can lead to thicker, elevated, and poorly defined plaques that scale.
Topical corticosteroids for treatment; removing the aggravating factors.
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Pathology - Atopic Dermatitis (Eczema)
The precise cause of the condition is unknown, but immune system failure that results in IgE sensitization and subsequent epithelial inflammation has been theorized. The condition is frequently linked to a personal or familial history of allergies, asthma, or atopic dermatitis.
Most frequently manifests in youngsters under the age of four.
Depending on the stage of the illness, may show multiple histopathologic skin appearances (similar to allergic contact dermatitis).
Acute stage: perivascular lymphocytic infiltration in epidermis; vesicles; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: dermal lymphocytic infiltration, hyperkeratosis, and anaanthosis.
Prickly lesion episodes can be crusty, scaly, or exudative; they typically affect the hands, upper trunk, antecubital and popliteal folds, and the face (particularly the area around the eyes). In the event that the episodes are prolonged, the skin may thicken (lichenify) and produce dry, scaly patches.
Results of the lab: elevated IgE levels or eosinophilia may be observed.
Handling
Antihistamines, moisturizers, and topical corticosteroids are used to treat pruritus.
The precise cause of the condition is unknown, but immune system failure that results in IgE sensitization and subsequent epithelial inflammation has been theorized. The condition is frequently linked to a personal or familial history of allergies, asthma, or atopic dermatitis.
Most frequently manifests in youngsters under the age of four.
Depending on the stage of the illness, may show multiple histopathologic skin appearances (similar to allergic contact dermatitis).
Acute stage: perivascular lymphocytic infiltration in epidermis; vesicles; edema fluid within epidermis (spongiosis).
Subacute stage: Acute and chronic characteristics combined.
Chronic stage: dermal lymphocytic infiltration, hyperkeratosis, and anaanthosis.
Prickly lesion episodes can be crusty, scaly, or exudative; they typically affect the hands, upper trunk, antecubital and popliteal folds, and the face (particularly the area around the eyes). In the event that the episodes are prolonged, the skin may thicken (lichenify) and produce dry, scaly patches.
Results of the lab: elevated IgE levels or eosinophilia may be observed.
Handling
Antihistamines, moisturizers, and topical corticosteroids are used to treat pruritus.
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occurs as a reaction to exposure to phannacologic agents, such as tetracyclines, penicillins, NSAIDs, sulfonamides, or phenytoin.
Bullous drug reactions occur across a range, with the least severe being toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), and erythema multiforme (EM).
Erythema Multiforme: Target-lesion biopsy reveals central necrosis with surrounding area of perivenular inflammation; necrotic keratinocytes are seen beneath a normal layer of stratum corneum; may also notice superficial perivascular lymphocytic infiltration and skin edema.
Erythema Multiforme: Usually accompanied by a sore throat and cough, macular, erythematous lesions grow into target or bullous lesions on the skin, most commonly the extremities.
Bullous drug reactions occur across a range, with the least severe being toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), and erythema multiforme (EM).
Erythema Multiforme: Target-lesion biopsy reveals central necrosis with surrounding area of perivenular inflammation; necrotic keratinocytes are seen beneath a normal layer of stratum corneum; may also notice superficial perivascular lymphocytic infiltration and skin edema.
Erythema Multiforme: Usually accompanied by a sore throat and cough, macular, erythematous lesions grow into target or bullous lesions on the skin, most commonly the extremities.
Steven Johnson Syndrome: Characterized by subepidermal blisters, necrotic keratinocytes, and perivascular dermal infiltration, it is comparable to Erythema Multiforme.
Steven Johnson Syndrome: Erythema Multiforme symptoms combined with involvement of two or more mucosal surfaces (often the mouth) and less than 10% of the body's surface area.
Steven Johnson Syndrome: Erythema Multiforme symptoms combined with involvement of two or more mucosal surfaces (often the mouth) and less than 10% of the body's surface area.
Toxic Epidermal Necrolysis is characterized by complete epidermal necrosis, detachment from the underlying dermis, and few signs of inflammation in the dermis or epidermis.
Toxic Epidermal Necrolysis : Steven Johnson Syndrome symptoms, including involvement of more than 30% of the body's surface area and the development of bullae, are indicative of toxic epidermal necrosis. Diffuse skin erythema/desquamation akin to a severe sunburn may also be observed.
Toxic Epidermal Necrolysis : Steven Johnson Syndrome symptoms, including involvement of more than 30% of the body's surface area and the development of bullae, are indicative of toxic epidermal necrosis. Diffuse skin erythema/desquamation akin to a severe sunburn may also be observed.
Toxic Epidermal Necrolysis
Treatment
The removal of the offending agent; supportive care, including wound care, electrolyte and hydration management, and pain control.
The severity of skin and mucosal involvement determines the potential for fatality in Steven Johnson Syndrome and Toxic Epidermal Necrolysis.
The removal of the offending agent; supportive care, including wound care, electrolyte and hydration management, and pain control.
The severity of skin and mucosal involvement determines the potential for fatality in Steven Johnson Syndrome and Toxic Epidermal Necrolysis.
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Pathology - Psoriasis
Although there have been theories regarding autoimmune processes and hereditary risk, the etiology is unknown.
Skin: Neutrophil clusters in the stratum corneum (Munro microabscesses) or the epidermis (spongiform pustules); thinning of the surface epidermis over dermal papillae, resulting in the proximity of dermal blood vessels to the surface; thin stratum granulosum with parakeratosis.
Described as a coral-colored plaque coated in silver scales that is typically found on the scalp, knees, and elbows; positive Auspitz sign, which is characterized by small regions of blood when scales are removed; nail discolouration or pitting with nail plate and nail bed separation.
linked to a higher risk of cardiovascular disease, myopathy, enteropathy, and psoriatic arthritis.
For severe cases, treatment options include methotrexate or other immunomodulators, topical corticosteroids, and exposure to UVB light.
Although there have been theories regarding autoimmune processes and hereditary risk, the etiology is unknown.
Skin: Neutrophil clusters in the stratum corneum (Munro microabscesses) or the epidermis (spongiform pustules); thinning of the surface epidermis over dermal papillae, resulting in the proximity of dermal blood vessels to the surface; thin stratum granulosum with parakeratosis.
Described as a coral-colored plaque coated in silver scales that is typically found on the scalp, knees, and elbows; positive Auspitz sign, which is characterized by small regions of blood when scales are removed; nail discolouration or pitting with nail plate and nail bed separation.
linked to a higher risk of cardiovascular disease, myopathy, enteropathy, and psoriatic arthritis.
For severe cases, treatment options include methotrexate or other immunomodulators, topical corticosteroids, and exposure to UVB light.
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Pathology - Bullous Pemphigoid and Pemphigus Vulgaris
Bullous pemphigoid: An autoimmune condition that primarily affects males over 60 and is typified by lgG antibodies against hemidesmosomes of the epidermal basement membrane.
IgG antibodies against intercellular connections between epidermal keratinocytes are the hallmark of the autoimmune disease pemphigus vulgaris, which is most frequently observed in people between the ages of 40 and 60.
Bullous Pemphigoid: Skin has subepidermal bullae; perivascular infiltration of lymphocytes and eosinophils; immunofluorescence shows IgG deposition and a complement band running along the basement membrane.
In Pemphigus vulgaris, cells just above the skin's basal cell layer undergo acantholysis, resulting in a suprabasal acantholytic blister; immunofluorescence shows that complement and IgG surround epidermal cells.
Clinically less severe than pemphigus vulgaris, bullous pemphigoid is a chronic, relapsing, and remitting condition characterized by pruritic, fluid-filled blisters. Antibasement membrane antibodies were found in the lab.
Pneumonia pemphigus vulgaris: severe intraepidermal bullae that start in the lips and spread throughout the body; bullae ruptures can result in secondary infections; positive Nikolsky sign (blister formation following finger rubbing). Immunoglobulins, an antiadhesion molecule, were found in the lab.
Systemic corticosteroids for bullous pemphigoid; other immunosuppressive medications may be needed in more severe instances.
Systemic corticosteroids and immunosuppressive medications (such mycophenolate mofetil) are used to treat Pemphigus vulgaris.
In contrast to PV, paraneoplastic pemphigus is linked to mucosal lesions, just like EM. Because of the underlying malignancy, survival rates are dismal.
Bullous pemphigoid: An autoimmune condition that primarily affects males over 60 and is typified by lgG antibodies against hemidesmosomes of the epidermal basement membrane.
IgG antibodies against intercellular connections between epidermal keratinocytes are the hallmark of the autoimmune disease pemphigus vulgaris, which is most frequently observed in people between the ages of 40 and 60.
Bullous Pemphigoid: Skin has subepidermal bullae; perivascular infiltration of lymphocytes and eosinophils; immunofluorescence shows IgG deposition and a complement band running along the basement membrane.
In Pemphigus vulgaris, cells just above the skin's basal cell layer undergo acantholysis, resulting in a suprabasal acantholytic blister; immunofluorescence shows that complement and IgG surround epidermal cells.
Clinically less severe than pemphigus vulgaris, bullous pemphigoid is a chronic, relapsing, and remitting condition characterized by pruritic, fluid-filled blisters. Antibasement membrane antibodies were found in the lab.
Pneumonia pemphigus vulgaris: severe intraepidermal bullae that start in the lips and spread throughout the body; bullae ruptures can result in secondary infections; positive Nikolsky sign (blister formation following finger rubbing). Immunoglobulins, an antiadhesion molecule, were found in the lab.
Systemic corticosteroids for bullous pemphigoid; other immunosuppressive medications may be needed in more severe instances.
Systemic corticosteroids and immunosuppressive medications (such mycophenolate mofetil) are used to treat Pemphigus vulgaris.
In contrast to PV, paraneoplastic pemphigus is linked to mucosal lesions, just like EM. Because of the underlying malignancy, survival rates are dismal.
Bullous Pemphigoid
Pemphigoid Vulgaris
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Pathology - Myotonic Dystrophy
A condition that is autosomal dominant and causes an increase in CTG repeats in the myotonin protein kinase gene on chromosome 19.
appears most frequently in the 20s and 30s, though it can also appear throughout early childhood.
Pathology
Internal nuclei in muscle are increased, along with ring fibers (cytoplasmic bands inside the fiber's center), fiber splitting, and necrosis of the intrafusal fibers in muscle spindles.
Clinical Signs and Symptoms
Myotonia, or the inability to relax tensed muscles, frequently manifests as muscle stiffness, as well as weakening and atrophy in the muscles of the distal limbs and face.
connected to reduced glucose tolerance, baldness, cataracts, and shrinkage of the testicles.
Phenytoin treatments for myotonia.
Huntington's disease, fragile X syndrome, and myotonic dystrophy all exhibit anticipation, a condition in which the frequency of repetitions rises with each generation and causes increasingly severe disease symptoms.
A condition that is autosomal dominant and causes an increase in CTG repeats in the myotonin protein kinase gene on chromosome 19.
appears most frequently in the 20s and 30s, though it can also appear throughout early childhood.
Pathology
Internal nuclei in muscle are increased, along with ring fibers (cytoplasmic bands inside the fiber's center), fiber splitting, and necrosis of the intrafusal fibers in muscle spindles.
Clinical Signs and Symptoms
Myotonia, or the inability to relax tensed muscles, frequently manifests as muscle stiffness, as well as weakening and atrophy in the muscles of the distal limbs and face.
connected to reduced glucose tolerance, baldness, cataracts, and shrinkage of the testicles.
Phenytoin treatments for myotonia.
Huntington's disease, fragile X syndrome, and myotonic dystrophy all exhibit anticipation, a condition in which the frequency of repetitions rises with each generation and causes increasingly severe disease symptoms.
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Pathology -Systemic Lupus Erythematosus
Autoimmune disorder; linked to HLA-DR2 and -DR3; some medications (phenytoin, procainamide, INH, hydralazine) can cause a syndrome that is reversible and resembles systemic lupus erythematosus (SLE).
African American women between the ages of 20 and 40 are most frequently affected.
Pathophysiology: The disease is caused by either autoantibody-mediated host cell death or a type III hypersensitivity reaction resulting in the deposition of antigen-antibody complexes in the capillaries of visceral tissues.
Heart: Myocarditis, pericarditis, and mitral valve disease; early coronary artery disease may also be present.
Kidney: Immune complex deposition and wire-loop lesions.
Skin: Necrotizing vasculitis; destruction of the epidermal basal layer accompanied by cutaneous edema.
Joint: synovitis with mononuclear infiltration in subsynovial tissue and neutrophils in synovial fluid.
Lung: interstitial fibrosis, pleuritis, and pleural effusions.
Clinical Signs and Symptoms
fever, exhaustion, rash resembling a butterfly, hair loss, mucosal ulcers, arthritis, photosensitivity, convulsions or amnesia, pleuritis; kidney disease with proteinuria, Raynaud phenomenon, and Libman-Sacks endocarditis.
Results from the lab: Possession of positive ANA, anti-ds DNA, and/or anti-Smith antibodies; possible detection of antihistone antibodies in drug-induced SLE; erroneous positive results on the RPR/VDRL syphilis test; hemolytic anemia; pancytopenia.
NSAIDs, corticosteroids, and immunomodulators (such as cyclophosphamide and mycophenolate mofetil) are used as treatments.
Autoimmune disorder; linked to HLA-DR2 and -DR3; some medications (phenytoin, procainamide, INH, hydralazine) can cause a syndrome that is reversible and resembles systemic lupus erythematosus (SLE).
African American women between the ages of 20 and 40 are most frequently affected.
Pathophysiology: The disease is caused by either autoantibody-mediated host cell death or a type III hypersensitivity reaction resulting in the deposition of antigen-antibody complexes in the capillaries of visceral tissues.
Heart: Myocarditis, pericarditis, and mitral valve disease; early coronary artery disease may also be present.
Kidney: Immune complex deposition and wire-loop lesions.
Skin: Necrotizing vasculitis; destruction of the epidermal basal layer accompanied by cutaneous edema.
Joint: synovitis with mononuclear infiltration in subsynovial tissue and neutrophils in synovial fluid.
Lung: interstitial fibrosis, pleuritis, and pleural effusions.
Clinical Signs and Symptoms
fever, exhaustion, rash resembling a butterfly, hair loss, mucosal ulcers, arthritis, photosensitivity, convulsions or amnesia, pleuritis; kidney disease with proteinuria, Raynaud phenomenon, and Libman-Sacks endocarditis.
Results from the lab: Possession of positive ANA, anti-ds DNA, and/or anti-Smith antibodies; possible detection of antihistone antibodies in drug-induced SLE; erroneous positive results on the RPR/VDRL syphilis test; hemolytic anemia; pancytopenia.
NSAIDs, corticosteroids, and immunomodulators (such as cyclophosphamide and mycophenolate mofetil) are used as treatments.
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Pathology - Sjögren Syndrome
Secondary form is found in association with other autoimmune disorders (RA and SLE), and is caused by autoimmune destruction of the salivary and lacrimal glands. It is related with HLA-DR2 and -DR3.
primarily affects women in the age range of 40 to 60.
Lacrimal and salivary glands: Hyperplasia of ductal epithelial cells; eventual fibrosis and atrophy of tissue; perivascular and periductal lymphocytic infiltrate; lymphoid follicles may be observed.
may affect extraglandular organs like the kidney, lung, or central nervous system in addition to other exocrine glands.
Dry mouth (xerostosmia) and dry eyes (xerophthalmia) are two symptoms of primary Sjogren syndrome. It's possible to see parotid enlargement. Additional symptoms include Raynaud phenomenon, reflux esophagitis, dry cough, and dry skin.
An elevated risk of B-cell lymphoma, polyneuropathy, interstitial pneumonitis, interstitial nephritis, or pulmonary hypertension are among the complications.
Results of the lab: anti-SS-A (Ro) and anti-SS-B (La) antibodies, as well as rheumatoid factor and other autoantibodies.
Treatment options for moderate-to-severe illness include artificial tears, topical or systemic steroids, and other immunomodulating medications.
Sicca syndrome is a type of Sjogren syndrome that solely manifests as dry lips and eyes.
In addition, it might be linked to vaginal dryness, reflux esophagitis, chronic bronchitis, and nasal dryness.
Secondary form is found in association with other autoimmune disorders (RA and SLE), and is caused by autoimmune destruction of the salivary and lacrimal glands. It is related with HLA-DR2 and -DR3.
primarily affects women in the age range of 40 to 60.
Lacrimal and salivary glands: Hyperplasia of ductal epithelial cells; eventual fibrosis and atrophy of tissue; perivascular and periductal lymphocytic infiltrate; lymphoid follicles may be observed.
may affect extraglandular organs like the kidney, lung, or central nervous system in addition to other exocrine glands.
Dry mouth (xerostosmia) and dry eyes (xerophthalmia) are two symptoms of primary Sjogren syndrome. It's possible to see parotid enlargement. Additional symptoms include Raynaud phenomenon, reflux esophagitis, dry cough, and dry skin.
An elevated risk of B-cell lymphoma, polyneuropathy, interstitial pneumonitis, interstitial nephritis, or pulmonary hypertension are among the complications.
Results of the lab: anti-SS-A (Ro) and anti-SS-B (La) antibodies, as well as rheumatoid factor and other autoantibodies.
Treatment options for moderate-to-severe illness include artificial tears, topical or systemic steroids, and other immunomodulating medications.
Sicca syndrome is a type of Sjogren syndrome that solely manifests as dry lips and eyes.
In addition, it might be linked to vaginal dryness, reflux esophagitis, chronic bronchitis, and nasal dryness.
