research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
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270-300 / 1000+ results research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Alopecias
The book is a valuable guide for managing hair disorders, despite some missing details.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Genetic, hormonal and metabolic aspects of PCOS: an update
The document concludes that insulin resistance is key in PCOS development and early treatment is crucial to prevent complications.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Ulcerative colitis and total alopecia in a mother and her son
A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration
New treatments and drugs show promise for improving skin pigmentation and regeneration.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
research Genetic regulation of the androgen receptor—A study of testicular feminization in the mouse
The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medications and surgery.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medication and sometimes surgery.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research HAIR LOSS IN WOMEN
Hair loss in women often doesn't follow a pattern, isn't linked to age, may be genetic, and can be related to thyroid issues or other health factors.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research Recent advances in the genetics of alopecia areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research Clinical Profile of Pediatric Alopecia Areata in Faisalabad City
Alopecia areata in children is more common in boys, mainly affects the scalp, and is linked to genetics and psoriasis.