research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
Search
for
Sort by
Research
780-810 / 1000+ results research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research The Thyroid Hormone Analogue KB2115 (Eprotirome) Prolongs Human Hair Growth (Anagen) Ex Vivo
KB2115 (eprotirome) can safely extend the hair growth phase without damaging cells or changing hair color.
research Prolactin delays hair regrowth in mice
Prolactin slows down hair growth in mice.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research A 7‐Year‐Old Male With a Linear Band‐Like Hair Patch
The boy's hair fully regrew after treatment for a rare hair loss condition.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Case 1: Intractable Rash in a 7-month-old Boy
The baby's rash and hair loss were cured with zinc supplements and better skin care.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Neurosteroids and Epileptogenesis
Neurosteroids may help prevent seizures and slow epilepsy progression.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research Modulating Aging and Aging-related Symptoms Using Endogenous Small Molecules
A molecule called α-ketobutyrate was found to extend lifespan and improve aging-related symptoms in worms and mice by activating certain cellular pathways and may help develop anti-aging treatments for humans.
research P02 Accelerated ageing of hair follicles in androgenetic alopecia
Hair follicles in androgenetic alopecia age faster, especially in the front.
research Innovative Therapeutics in Pediatric Dermatology
New treatments for skin conditions in children include a preferred drug for birthmark reduction, proactive creams for eczema and vitiligo, a safe psoriasis medication, and special tissues and socks for eczema and fungal infections.
research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Visual Diagnosis: The Case of the Balding Preschooler
A 4-year-old girl with hair loss was diagnosed with early-onset trichotillomania and improved with behavioral interventions.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Hormone-active ovarian steroid cell tumor in a 2-year-old girl
A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.