Tuberous sclerosis Sclerosis A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. Wilms Tumor or tuberous sclerosis Sclerosis A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. Wilms Tumor complex (TSC) is an autosomal dominant Autosomal dominant Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal dominant diseases are expressed when only 1 copy of the dominant allele is inherited. Autosomal Recessive and Autosomal Dominant Inheritance disorder with mainly neurocutaneous symptoms. Mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations in the TSC genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure causes excessive tumor Tumor Inflammation-like growths in the brain Brain The part of central nervous system that is contained within the skull (cranium). Arising from the neural tube, the embryonic brain is comprised of three major parts including prosencephalon (the forebrain); mesencephalon (the midbrain); and rhombencephalon (the hindbrain). The developed brain consists of cerebrum; cerebellum; and other structures in the brain stem. Nervous System: Anatomy, Structure, and Classification, eyes, heart, kidney, and lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs: Anatomy. Cutaneous manifestations include hypopigmentation Hypopigmentation A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. Malassezia Fungi (i.e., ash leaf spots, confetti lesions) or excessive growth (i.e., angiofibroma, shagreen patch Patch Nonpalpable lesion > 1 cm in diameter Generalized and Localized Rashes). The diagnosis is made on clinical suspicion and confirmed by genetic testing Genetic Testing Detection of a mutation; genotype; karyotype; or specific alleles associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Myotonic Dystrophies. Management entails a multidisciplinary approach that targets monitoring and treatment of the various manifestations of the disorder. mTOR mTOR Peutz-Jeghers Syndrome inhibitors such as sirolimus Sirolimus A macrolide compound obtained from streptomyces hygroscopicus that acts by selectively blocking the transcriptional activation of cytokines thereby inhibiting cytokine production. It is bioactive only when bound to immunophilins. Sirolimus is a potent immunosuppressant and possesses both antifungal and antineoplastic properties. Immunosuppressants and everolimus Everolimus A derivative of sirolimus and an inhibitor of tor serine-threonine kinases. It is used to prevent graft rejection in heart and kidney transplant patients by blocking cell proliferation signals. It is also an antineoplastic agent. Immunosuppressants are used to treat severe manifestations.
Last updated: 30 Aug, 2021
Hypopigmented macule Macule Nonpalpable lesion < 1 cm in diameter Generalized and Localized Rashes (ash leaf spot)
Image: “Hypomelanotic lesions (ash leaf spot) on skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions” by Falsafi P, Taghavi-Zenouz A, Khorshidi-Khiyavi R, Nezami N, Estiar MA. License: CC BY 3.0Shagreen patch Patch Nonpalpable lesion > 1 cm in diameter Generalized and Localized Rashes noted in the lower back
Image: “Shagreen patches Patches Vitiligo on the back in a child” by Ghosh SK SK Seborrheic keratosis (sk) is the most common benign epithelial cutaneous neoplasm. The condition consists of immature keratinocytes. Seborrheic keratosis is the most common benign skin tumor in middle-aged and elderly adults and presents as a sharply demarcated, exophytic, skin lesion that may be tan or black and has a “stuck-on” appearance. Seborrheic Keratosis, Bandyopadhyay D, Chatterjee G, Ghosh A, Sarkar S, Sarkar S. License: CC BY 2.0Angiofibroma
Image: “Shows the characteristics skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Skin: Structure and Functions lesions on the face” by Datta AK AK Actinic keratosis (AK) is a precancerous skin lesion that affects sun-exposed areas. The condition presents as small, non-tender macules/papules with a characteristic sandpaper-like texture that can become erythematous scaly plaques. Actinic Keratosis, Mandal S, Bhattacharya S. License: CC BY 3.0Major diagnostic features of tuberous
sclerosis
Sclerosis
A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.
Wilms Tumor complex (TSC; indicated in bold type)
LAM:
lymphangioleiomyomatosis
Lymphangioleiomyomatosis
A disease characterized by the progressive invasion of smooth muscle cells into the lymphatic vessels, and the blood vessels. The majority of the cases occur in the lungs of women of childbearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (dyspnea).
Interstitial Lung Diseases
PEComa:
tumor
Tumor
Inflammation showing perivascular epithelioid cell differentiation
SEGA: subependymal giant-cell
astrocytoma
Astrocytoma
Astrocytomas are neuroepithelial tumors that arise from astrocytes, which are star-shaped glial cells (supporting tissues of the CNS). Astrocytomas are a type of glioma. There are 4 grades of astrocytomas.
Astrocytoma
No single clinical presentation Presentation The position or orientation of the fetus at near term or during obstetric labor, determined by its relation to the spine of the mother and the birth canal. The normal position is a vertical, cephalic presentation with the fetal vertex flexed on the neck. Normal and Abnormal Labor of TSC is considered diagnostic.