research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
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research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research FRI334 A Case Of Delayed Onset Sheehan's Syndrome With Diabetes Insipidus
A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Unmasking pseudopelade of Brocq in male adult: a rare case report
Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Polycystic Ovary Syndrome in the Context of Pituitary Adenomas: Prevalence, Pathophysiology and Clinical Management
PCOS symptoms can improve with specific treatments for pituitary adenomas.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research A case report of Graham-Little–Piccardi–Lassueur syndrome
A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Familial Frontal Fibrosing Alopecia Occurs Early in Daughters With Affected Mothers: A Case Report and a Review of the Literature
Daughters with affected mothers may develop frontal fibrosing alopecia early.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research What may be the markers of the male equivalent of polycystic ovary syndrome?
Some men with early hair loss may have a condition similar to PCOS in women.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research White monkey syndrome in infant baboons (Papio species)
Infant baboons suffered from zinc poisoning due to poor cage conditions.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Plica Neuropathica as a Presenting Rare Dermatologic Symptom of Schizophrenia
Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.