research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
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420-450 / 1000+ resultsresearch Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Short anagen syndrome: Case series and literature review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Erosive Pustular Dermatosis of the Scalp Arising on Long-Standing Burn Scars: A Report of Three Cases and Brief Review of Literature
Chronic burn scars may lead to scalp skin issues, so doctors should consider this when diagnosing.
research SAT-478 Virilizing Adrenal Adenoma Co-secreting Cortisol and DHEA-S: A Case Report
Surgery improved symptoms and normalized hormone levels in a woman with an adrenal tumor.
research Síndrome PRIDE: una práctica forma de identificar los efectos adversos cutáneos de los inhibidores del EGFR
PRIDE syndrome helps identify skin side effects from EGFR inhibitors like erlotinib.
research British Society for Dermatopathology
Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
research LB1028 Spontaneous keloid eruption in a patient on dialysis
Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
research 603 Degradation of aberrant NETs by DNases is a promising therapeutic strategy for SJS/TEN
Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
research Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
This document reports the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X-linked dominant form of chondrodysplasia punctata. A 2-month-old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress. The condition was successfully managed with serial endoscopic balloon dilations, which restored airway patency, enabled weaning from respiratory support, and avoided the need for tracheostomy. This case expands the recognized clinical spectrum of CDPX2 and highlights the potential role of minimally invasive airway intervention in selected cases. Early recognition and proactive airway management are essential for improving outcomes in these patients.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Twenty nail dystrophy with alopecia areata in an atopic child
A child with rough nails also had hair loss and allergies.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Raynaud Phenomenon
Most people with Raynaud's won't get serious diseases, but doctors should watch for signs over time; also, quick weight loss can cause hair loss.
research A Unique Case of Isolated Dehydroepiandrosterone-Sulfate Secreting Adrenocortical Carcinoma: A Case Report with Review of the Literature
A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.