pediagenosis: Integumentary
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Showing posts with label Integumentary. Show all posts
Showing posts with label Integumentary. Show all posts

Tuesday, September 15, 2026

Thursday, September 10, 2026

Myxedema: Symptoms, Causes, Skin Findings, Diagnosis & Treatment

Myxedema: Symptoms, Causes, Skin Findings, Diagnosis & Treatment



Myxedema skin findings showing periorbital edema, dry skin, facial changes, and other clinical features of severe hypothyroidism





MYXEDEMA
Myxedema is seen in patients with untreated severe hypothyroidism. This condition results from a total lack of thyroid hormone secretion and resultant deposition of mucopolysaccharides into the skin and other organs. Many skin and systemic findings are present in severe hypothyroidism. This is a condition seen in adults. The infantile form, called cretinism, is still found in parts of the world that do not routinely test newborn infants. If it is left untreated, mental retardation and various neurological deficits can occur. Adult myxedema is an uncommon clinical disease.

Tuesday, September 8, 2026

Dermatomyositis: Symptoms, Causes, Diagnosis, Histology & Treatment

Dermatomyositis: Symptoms, Causes, Diagnosis, Histology & Treatment

Dermatomyositis with characteristic skin rash and proximal muscle weakness



Dermatomyositis
Dermatomyositis is a chronic connective tissue disease that can be associated with an underlying internal malignancy. This connective tissue disease shares similarities with polymyositis, but the latter has no cutaneous findings. Up to one third of patients with dermatomyositis have an underlying malignancy. The myositis is often prominent and manifests as tenderness and weakness of the proximal muscle groups. The pelvic and shoulder girdle muscles are the ones most commonly affected. Dermatomyositis sine myositis is a well-recognized variant that has only the cutaneous findings; evidence of muscle involvement is absent.

Sunday, August 30, 2026

Glomus Tumor and Glomangioma: Symptoms, Histology, Causes and Treatment

Glomus Tumor and Glomangioma: Symptoms, Histology, Causes and Treatment


Glomus tumor and glomangioma showing clinical features and histology


GLOMUS TUMOR AND GLOMANGIOMA
Glomus tumors are benign tumors derived from the glomus body. The glomus body is a component of the vascular thermoregulatory unit. These tumors are most frequently encountered in early adulthood and are most commonly found on the digits. Glomus tumors are solitary in nature, and the term glomangioma is used when describing the glomuvenous malformation. This usually manifests as a congenital defect in infants and young children and appears to be a multifocal grouping or mass of coalescent glomus tumors.

Saturday, August 29, 2026

Becker’s Nevus: Symptoms, Causes, Diagnosis and Treatment

Becker’s Nevus: Symptoms, Causes, Diagnosis and Treatment


Becker's nevus showing hyperpigmentation and hypertrichosis on the shoulder and upper body

BECKER’S NEVUS (SMOOTH MUSCLE HAMARTOMA)
Becker’s nevi most commonly appear on the shoulder or upper limb girdle of prepubescent boys. It is a rather common benign condition that is seen in up to 0.5% of the male population. It is less commonly seen in females. Becker’s nevi are acquired nevi. Most occur before 10 years of age. Becker’s nevus is classified as a smooth muscle hamartoma. It does not contain melanocytic nevus cells and is not considered to be a melanocytic nevus. It was given its name by the dermatologist Samuel Becker, who first described this condition.
Acrochordon (Skin Tags): Causes, Clinical Features & Treatment

Acrochordon (Skin Tags): Causes, Clinical Features & Treatment

Acrochordon skin tags showing clinical features, common locations, and treatment



ACROCHORDON
Acrochordons are better known by their common name of skin tag or fibroepithelial polyp. They are found universally throughout humankind. Probably every adult has at least one skin tag located somewhere across the surface of his or her skin. Except for a few loose associations with certain syndromes, skin tags have no clinical importance and are often ignored.

Monday, August 17, 2026

Nevus Lipomatosus Superficialis: Symptoms, Causes, Histology & Treatment

Nevus Lipomatosus Superficialis: Symptoms, Causes, Histology & Treatment


Nevus lipomatosus superficialis clinical appearance

Nevus Lipomatosus Superficialis
Nevus lipomatosus superficialis is a not-uncommon benign skin growth that is considered to be a hamartomatous proliferation of adipose tissue located in the dermis. It was originally named nevus lipomatosus cutaneous superficialis of Hoffman-Zurhelle. There are no known systemic associations with this benign skin growth, and no inheritance pattern has been described.

Sunday, August 16, 2026

Sporotrichosis: Causes, Symptoms, Diagnosis, Histology and Treatment

Sporotrichosis: Causes, Symptoms, Diagnosis, Histology and Treatment

SPOROTRICHOSIS
Plate 6-24

SPOROTRICHOSIS

Sporothrix schenckii is an environmental fungus that is capable of causing human disease after direct inoculation into the skin. Inoculation is the cause of cutaneous sporotrichosis, which is considered to be a subcutaneous mycosis. Unusual cases of inhalation sporotrichosis have been described in the literature, as have cases of central nervous system disease. These cases occur almost exclusively in immunosuppressed hosts. Sporotrichosis has classically been associated with inoculation after the prick from a rose plant. This is well reported; the fungus can be isolated from rose plants but is also found on many other plants and in soil environments. 

Friday, August 7, 2026

Phenylketonuria (PKU): Symptoms, Causes, Diagnosis, Treatment & Low-Phenylalanine Diet Guide

Phenylketonuria (PKU): Symptoms, Causes, Diagnosis, Treatment & Low-Phenylalanine Diet Guide

 

Phenylketonuria PKU symptoms diagnosis treatment illustration
NORMAL AND ABNORMAL METABOLISM OF PHENYLALANINE



         PHENYLKETONURIA

Phenylalanine is an essential amino acid that serves as a substrate for many different biochemical pathways. Two end products that use phenylalanine as their precursors are melanin and epinephrine. Under normal physiological and biochemical environments, any excess amount of phenylalanine is converted into tyrosine by the liver and used for a host of biochemical processes including protein synthesis. In patients with phenylketonuria, the enzyme in the liver that converts phenylalanine into tyrosine is completely absent. This inborn error of metabolism is one of the most thoroughly researched disease states. With early detection and therapy, the severe sequelae of phenylketonuria can be avoided. Screening is performed soon after birth for all children in the United States and in most of the world. Children born in regions with poor medical infrastructure and no testing are at risk for the disease. Once the disease symptoms have appeared, therapy usually cannot reverse the damage that has been done. Phenyl-ketonuria is inherited in an autosomal recessive manner, but many genotypes have been described, and many mutations in the responsible gene have been reported. The defect is located on the long arm of chromosome 12, where the PAH gene encodes the protein, phenylalanine hydroxylase.

Friday, July 31, 2026

Scurvy (Vitamin C Deficiency): Symptoms, Causes, Diagnosis, Treatment, and Prevention

Scurvy (Vitamin C Deficiency): Symptoms, Causes, Diagnosis, Treatment, and Prevention

Clinical signs of scurvy caused by vitamin C deficiency showing bleeding gums, corkscrew hairs, perifollicular hemorrhage, and skin changes.
DIETARY SOURCES OF VITAMIN C AND CLASSIC CUTANEOUS MANIFESTATIONS OF SCURVY


SCURVY

Scurvy is a well-known nutritional disease that results from a lack of the water-soluble vitamin, ascorbic acid (vitamin C). Scurvy has a well-documented history. It was first recognized in the fourteenth century in sailors who spent long amounts of time at sea. The symptoms were recognized as being related to a lack of fresh foods, especially citrus products. In 1753, James Lind, a British surgeon aboard the HMS Salisbury, performed the first documented clinical trial proving that scurvy was caused by a lack of citrus fruit in the diet of sailors. After Lind’s discovery, citrus fruits were included in ships’ provisions, and the incidence of scurvy in sailors plummeted. It was not until 1928 that ascorbic acid was isolated by the Hungarian chemist, Albert von Szent-Grörgyi, who was eventually awarded the Nobel Prize for this discovery. Scurvy is still present in some areas of the world due to inadequate dietary intake of vitamin C. Scurvy is uncommon in North America but can be seen in individuals with abnormal diets.

Tuesday, July 21, 2026

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

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

Clinical features of Carney Complex showing lentigines, cardiac myxomas, endocrine abnormalities and PRKAR1A mutation.


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

Clinical features of Cushing's syndrome showing moon face, buffalo hump, purple striae and cortisol-related skin changes


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

Illustration of Cushing's syndrome pathophysiology showing cortisol excess, ACTH regulation, adrenal glands and pituitary gland.


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

Typical clinical and skin manifestations seen in individuals with Down syndrome.

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.

Saturday, July 4, 2026

Ehlers-Danlos Syndrome (EDS): Symptoms, Causes, Types, Diagnosis & Treatment

Ehlers-Danlos Syndrome (EDS): Symptoms, Causes, Types, Diagnosis & Treatment

Patient with Ehlers-Danlos syndrome showing hyperextensible skin and joint hypermobility.
Genodermatoses and Syndromes


EHLERS-DANLOS SYNDROME

Ehlers-Danlos syndrome is a heterogeneous disease of defective connective tissue production. There are many subtypes, most caused by defects in collagen formation or in the posttranslational modification of collagen. This grouping of diseases has been confusing because of the variable nature of the subtypes and the lack of a universally adopted classification system. Under the most recent system, there are 7 distinct subtypes; under the historical classification, there were 11 types. The new classification system has not been universally adopted, which contributes to the confusion. As the genetic defects behind each subtype are determined, researchers and clinicians will gain a better understanding of the syndrome.

Thursday, July 2, 2026

Neurofibromatosis (NF1 & NF2): Symptoms, Causes, Diagnosis, Treatment, and Long-Term Management

Neurofibromatosis (NF1 & NF2): Symptoms, Causes, Diagnosis, Treatment, and Long-Term Management


Neurofibroma
Neurofibroma




Neurofibromas are uncommon benign skin tumors that can be solitary but are more commonly found in multiples in patients with neurofibromatosis. Neurofibromatosis is one of the more common genodermatoses, afflicting 1 in every 3000 to 4000 individuals. It is caused by a defective tumor suppressor gene.
Tuberous Sclerosis (Bourneville Syndrome): Symptoms, Causes, Diagnosis, Treatment & Skin Signs

Tuberous Sclerosis (Bourneville Syndrome): Symptoms, Causes, Diagnosis, Treatment & Skin Signs

Genodermatoses and Syndromes
Genodermatoses and Syndromes


Tuberous sclerosis (Bourneville’s syndrome) is a multisystem disease that often manifests with cutaneous findings. It is inherited in an autosomal dominant manner and is directly caused by a defect in one of two genes, TSC1 or TSC2, usually due to a spontaneous mutation. TSC1 has been shown to encode the hamartin protein, whereas TSC2 gene encodes the tuberin protein. The skin, central nervous system (CNS), cardiovascular, respiratory, visual, and musculoskeletal systems are affected. This genodermatosis has an extremely variable phenotype. At one extreme is the severely disabled and mentally delayed individual with severe seizure disorders; at the other end of the spectrum is the individual with mild skin disease and unappreciable CNS disease.

Saturday, June 13, 2026

Median Raphe Cyst: Causes, Symptoms, Diagnosis, and Treatment of a Rare Congenital Penile Cyst

Median Raphe Cyst: Causes, Symptoms, Diagnosis, and Treatment of a Rare Congenital Penile Cyst


Median Raphe Cyst



Median Raphe Cyst
Median raphe cysts are uncommon benign cysts that form in the midline region of the perineum. They most commonly occur on the ventral shaft of the penis but can occur anywhere from the urethral opening along the ventral surface of the penis, in the midline across the scrotum, and to the anus. This cyst is considered to be formed from a congenital abnormality of the genitalia. An abnormal folding of the urethral folds is believed to be the cause of these developmental cysts.

Sunday, October 5, 2025

HERPES ZOSTER (SHINGLES)

HERPES ZOSTER (SHINGLES)

HERPES ZOSTER (SHINGLES)

CLINICAL PRESENTATION OF HERPES ZOSTER
CLINICAL PRESENTATION OF HERPES ZOSTER

The varicella zoster virus (VZV) is responsible for causing varicella (chickenpox) as well as herpes zoster (shingles). Herpes zoster is caused by reactivation of dormant VZV. Only hosts who have previously been infected with VZV can develop herpes zoster. The incidence of herpes zoster is sure to decrease in the future, because the zoster vaccine has good efficacy in increasing immunity against the virus. The live attenuated vaccine is currently recommended for those individuals 60 years of age and older who fulfill the criteria for receiving a live vaccine. This age was chosen because the incidence of herpes zoster increases after age 60, possibly related to a waning immune response and anti-body titer remaining from the patient’s original VZV infection. Whether the VZV vaccine protects against herpes zoster will take years to determine. The United States introduced widespread childhood immunization against VZV in 1995, and none of these children have yet reached the age of 60. Whether future booster vaccinations or VZV revaccination will be required is yet to be determined.

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