Carney Complex: Symptoms, Causes, Diagnosis, Genetics, Treatment, and Long-Term Management

Carney Complex: Symptoms, Causes, Diagnosis, Genetics, Treatment, and Long-Term Management

pediagenosis    July 21, 2026    Comment   

CARNEY COMPLEX

Carney complex, also known as NAME syndrome (nevi, atrial myxomas, myxoid neurofibromas, ephelides) or LAMB syndrome (lentigines, atrial myxomas, mucocutaneous myxomas, blue nevi), is an autosomal dominantly inherited disorder that affects the integumentary, endocrine, cardiovascular, and central nervous systems. This rare disorder is primarily caused by a genetic mutation in the tumor suppressor gene, PRKAR1A. Approximately 20% of patients have defects in an undescribed gene located at 2p16. Various genotypes and phenotypes exist, and the diagnosis is based on a complex list of major, supplemental, and minor criteria.

Cushing's Syndrome vs Cushing's Disease: Symptoms, Causes, Diagnosis & Treatment Guide

Cushing's Syndrome vs Cushing's Disease: Symptoms, Causes, Diagnosis & Treatment Guide

pediagenosis    July 21, 2026    Comment   

CUSHING’S SYNDROME AND CUSHING’S DISEASE

Cushing’s syndrome is caused by excessive secretion of endogenous glucocorticoids or, more frequently, by intake of excessive exogenous glucocorticoids. The latter type is typically iatrogenic in nature. The excessive glucocorticoid levels lead to the many cutaneous and systemic signs and symptoms of Cushing’s syndrome and Cushing’s disease. Endogenous glucocorticoids are made and secreted by the adrenal glands, and benign adrenal adenomas are the most frequently implicated adrenal tumors causing Cushing’s syndrome. Cushing’s disease is caused by excessive secretion from the anterior pituitary of adrenocorticotropic hormone (ACTH, corticotropin) as the result of a basophilic or chromophobe adenoma. The increased amount of ACTH causes the adrenal glands to hypertrophy and boost their production of cortisol, eventually leading to a state of hypercortisolism. Excessive release of corticotropin-releasing hormone (CRH) from the para- ventricular nucleus of the hypothalamus can also cause the syndrome. Any tumor that has the ability to produce ACTH also has the potential to cause Cushing’s syndrome. The most frequently reported such tumor is the small cell tumor of the lung, which is able to produce many neuroendocrine hormones including ACTH in large amounts.

Cushing's Syndrome Pathophysiology: Causes, Symptoms, Hormonal Mechanisms & Diagnosis

Cushing's Syndrome Pathophysiology: Causes, Symptoms, Hormonal Mechanisms & Diagnosis

pediagenosis    July 21, 2026    Comment   

CUSHING’S SYNDROME: PATHOPHYSIOLOGY

Cushing’s syndrome is directly caused by excessive amounts of glucocorticoids and their effects on numerous organ systems. Cortisol is strikingly elevated in all cases of Cushing’s syndrome. In some cases, levels of 17-ketosteroids and aldosterone are slightly elevated, and this plays a role in the clinical manifestations of the disease. There are numerous disease states that can cause hypercortisolemia, including excessive secretion of adrenocorticotropic hormone (ACTH, corticotropin), adenoma and hyperplasia of the adrenal gland, carcinoma of the adrenal gland, primary pigmented nodular adrenocortical disease (PPNAD), and exogenous cortisol use. In all cases, it is the marked elevation of cortisol that ultimately is the cause of the disease.

Down Syndrome (Trisomy 21): Symptoms, Causes, Diagnosis, Skin Signs & Treatment Guide

Down Syndrome (Trisomy 21): Symptoms, Causes, Diagnosis, Skin Signs & Treatment Guide

pediagenosis    July 21, 2026    Comment   

DOWN SYNDROME

Down syndrome is a genetic disorder caused by trisomy of chromosome 21. Trisomy 21 occurs in approximately 1 of every 1000 births. Chromosome 21 is an acrocentric chromosome, and trisomy 21 is the most common form of chromosomal trisomy. Trisomy 21 most often occurs as the result of nondisjunction of meiosis, which leads to an extra copy of chromosome 21. Some patients with Down syndrome have a Robertsonian translocation to chromosome 14 or chromosome 22, which are two other acrocentric chromosomes. In these cases, the number of total chromosomes is normal at 46, but the extra chromosome 21 material is translocated to another chromosome. This, in effect, causes an extra chromosome 21. All or part of chromosome 21 may be trans-located, leading to variations in phenotype. Mosaicism is a rare cause of trisomy 21 in partial cell lines, and the clinical phenotype depends on how early the genetic defect occurred during embryogenesis.

SYPHILIS

SYPHILIS

pediagenosis    July 19, 2026   

SYPHILIS

The scrotal skin is not an uncommon site for a primary syphilitic lesion. The primary stage of syphilis is marked by the appearance of a single sore (chancre), approximately 21 days after exposure. The chancre is usually firm, round, small, and painless, lasts 3 to 6 weeks, and heals without treatment. Regardless of location, the syphilitic chancre is grossly the same (see Plate 2-23). It may occur at the penoscrotal junction with barrier contraceptives. Lesions of the scrotum, however, are much more common in later forms of syphilis, especially during early and late relapses. They appear during relapse within the first 2 years but have been observed many years later as well. Anogenital cutaneous relapse occurs in 40% of cases and scrotal lesions occur in 25% of relapsing cases.

Scoliosis: Causes, Symptoms, Types, Diagnosis, and Treatment Options

Scoliosis: Causes, Symptoms, Types, Diagnosis, and Treatment Options

pediagenosis    July 11, 2026    Comment   

SCOLIOSIS

Scoliosis is a rotational deformity of the spine and ribs. While in most cases the cause of scoliosis is unknown (idiopathic scoliosis), in excess of 50 genetic markers have been identified as having a major role in adolescent idiopathic curves. Scoliosis may also result from a variety of congenital, neuromuscular, mesenchymal, and traumatic conditions, and it is commonly associated with neurofibromatosis.

Pelvic and Prostatic Trauma: Causes, Symptoms, Diagnosis, and Management of Posterior Urethral Injury

Pelvic and Prostatic Trauma: Causes, Symptoms, Diagnosis, and Management of Posterior Urethral Injury

pediagenosis    July 09, 2026    Comment   

PELVIC AND PROSTATIC TRAUMA

Penetrating trauma to the prostate gland is rare as it is protected from penetrating objects by the surrounding bony pelvis. However, penetrating injury to the prostate is possible from broken pelvic bones as a consequence of pelvic fracture. The real concern with prostatic trauma, however, involves injury to the posterior and prostatomembranous urethra that lie superior to the urogenital diaphragm. This is most commonly a consequence of forceful blunt trauma to the pelvis.

Breast Development Stages: Tanner Stages, Puberty Changes, and Normal Growth in Girls

Breast Development Stages: Tanner Stages, Puberty Changes, and Normal Growth in Girls

pediagenosis    July 09, 2026    Comment   

THE BREAST  DEVELOPMENTAL STAGES

In a human new born at birth, in the female as well as in the male, the mammary glands have developed sufficiently so that they appear as distinct hemispheroidal elevations, palpable as movable soft masses. This is especially prominent in postterm infants. Histologically, a number of branching channels with layers of lining cells and plugs of basal cells at their ends, the future milk ducts and glandular lobules, respectively, can easily be recognized. In a great number of infants an everted nipple is observed, and in about 10% a greatly enlarged gland can be palpated, a condition that received the unfortunate name of mastitis neonatorum, though no signs of inflammation exist. These early glandular structures may produce a milk like secretion, the “witch’s milk,” starting 2 or 3 days after birth. All these neonatal phenomena in the breast are the result of the very intensive, maternal estrogen driven developmental processes in the last stages of intrauterine life. The changes subside within the first 2 to 3 weeks of life. It is during this period that the breast undergoes marked involutional changes leading to the quiescent stage, which is characteristic of infancy and childhood. During these periods, the male and the female glands consist of a few branching rudimentary ducts lined by flattened epithelium, surrounded by collagenous connective tissue.

Cardiac Echinococcus Infection (Hydatid Pericarditis): Symptoms, Diagnosis and Treatment

Cardiac Echinococcus Infection (Hydatid Pericarditis): Symptoms, Diagnosis and Treatment

pediagenosis    July 04, 2026    Comment   

Echinococcus Infection and Hydatid Pericarditis

Cardiac Echinococcus Infection

Even in endemic regions, the heart is rarely affected by Echinococcus disease; the incidence of primary myocardial involvement is less than 2% in human echinococciasis (echinococcosis). The parasitic six-hooked embryo reaches the myocardium through the coronary circulation, having passed through the gastric or intestinal mucosa into the portal circulation, and through both the hepatic and the pulmonary capillary bed. It can establish itself and develop into an echinococcus cyst in almost any part of the myocardium, but cysts are mostly located in the walls of the ventricles (see Plate 6-149). There is a higher incidence of cysts in the myocardium of the left ventricle because its vascular bed is more abundant. The developing parasitic membranous cyst is surrounded by a fibrous sac or capsule, the adventitia. When it grows larger, the cyst may protrude into a cardiac cavity, the pericardial sac, or both, its greater and more prominent part usually projecting toward the pericardium.

Tremor: Causes, Symptoms, Types, Diagnosis & Treatment Explained

Tremor: Causes, Symptoms, Types, Diagnosis & Treatment Explained

pediagenosis    July 04, 2026    Comment   

Basal Ganglia and Movement Disorders

Tremor

Tremor is a rhythmic, oscillatory, involuntary movement caused by the alternating activation of agonist and antagonist muscles. The etiology of tremor is diverse and includes hereditary (familial tremor), degenerative (Parkinson disease), metabolic (thyroid, parathyroid, or hepatic disorders and hypoglycemia), toxins (nicotine, mercury, lead, carbon monoxide, manganese, arsenic, toluene), illicit drug use or medication-induced (neuroleptics, tricyclics, lithium, cocaine, alcohol, adrenaline, bronchodilators,  theophylline,  caffeine,  steroids,  valproate, amiodarone, thyroid hormones, vincristine), peripheral neuropathies (Charcot­ Marie ­Tooth disease, RoussyLevy syndrome, complex regional pain syndrome), and psychogenic disorders.