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690-720 / 1000+ resultsresearch Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Primary High‐Grade Ovarian Sertoli–Leydig Cell Tumor With Bilateral Adnexal Involvement in a Patient Diagnosed With Peutz–Jeghers Syndrome
Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research A Comparison of the Hormonal Profile of Early Androgenetic Alopecia in Men With the Phenotypic Equivalent of Polycystic Ovarian Syndrome in Women
Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research [Disorder of hair growth in hyperprolactinemia].
High prolactin levels can cause skin and hair symptoms similar to those caused by hormone imbalances.
research Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
Premature hair graying in the face may be influenced by genetics and environment.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Histopathological insights into hair loss in Cronkhite-Canada syndrome: Diffuse anagen-telogen conversion precedes clinical hair loss progression
Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Central precocious puberty secondary to peripheral precocious puberty due to a pineal germ cell tumor: a case and review of literature
A pineal tumor caused a boy's early puberty, which changed from peripheral to central after treatment.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Generalized trichoepitheliomas with alopecia and myasthenia gravis: Clinicopathologic and immunohistochemical study and comparison with classic and desmoplastic trichoepithelioma
Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
research Polycystic Ovary Syndrome: Special Diagnostic and Therapeutic Considerations for Children
Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
research 054 Post Finasteride Syndrome: Guess Who-Demographics from FDA Database
Younger people (median age 35) experience more PFS-like symptoms with 1mg finasteride; more research needed.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Premature androgenic alopecia and insulin resistance. Male equivalent of polycystic ovary syndrome?
Some men with early hair loss may have similar hormonal changes to women with Polycystic ovary syndrome, and could be at risk for developing type 2 diabetes.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research Premature Adrenarche
Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
research BENIGN PREMATURE ADRENARCHE: CLINICAL FEATURES AND SERUM STEROID LEVELS
Dexamethasone effectively normalizes elevated steroid levels in girls with premature adrenarche.