research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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810-840 / 1000+ resultsresearch A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Alopecia X in a cloned Pomeranian dog
Alopecia X in Pomeranians is likely genetic, not environmental.
research Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
research Frontal Alopecia after Repeated Botulinum Toxin Type A Injections for Forehead Wrinkles: An Underestimated Entity?
Repeated botulinum toxin injections for forehead wrinkles may cause hairline recession in some women.
research Treatment of Frontal Fibrosing Alopecia
Intralesional corticosteroids and 5-alpha-reductase inhibitors are the best treatments for frontal fibrosing alopecia.
research Janus kinase inhibition for the treatment of refractory frontal fibrosing alopecia: A case series and review of the literature
JAK inhibitors, like ruxolitinib, may effectively treat frontal fibrosing alopecia.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Treatment of frontal fibrosing alopecia: literature review 2020-2025
Frontal fibrosing alopecia can be managed with personalized combination therapies, but no cure exists yet.
research Frontal Fibrosing Alopecia and the Role of Cosmeceuticals in Its Pathogenesis
Cosmeceuticals like sunscreens may trigger frontal fibrosing alopecia, but more research is needed.
research Unveiling a Shared Precursor Condition for Acne Keloidalis Nuchae and Primary Cicatricial Alopecias
A condition with certain scalp changes may come before acne keloidalis nuchae and other similar hair loss disorders.
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 Lichen planopilaris caused by wig attachment: A Case of Koebner phenomenon in Frontal Fibrosing Alopecia
Wearing a wig caused a skin condition to develop in a woman with hair loss.
research Case of intractable ophiasis type of alopecia areata presumably improved by fexofenadine
Fexofenadine may help treat a difficult type of hair loss.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
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 (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research 1388 Clinicopathological characteristics of fibrosing alopecia in a pattern distribution: A single-center, retrospective study
The study suggests fibrosing alopecia in a pattern distribution has distinct features and may vary by race.
research Triangular Temporal Alopecia - Two Case Reports, Dermoscopy and Review
Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Rare and misdiagnosed entity fibrosing alopecia in a pattern distribution: A case report
A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
research Stimulation of ectodermal organ development by Ectodysplasin-A1
Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
research The spectrum of fibrosing alopecias
The document concludes that different types of permanent hair loss conditions are related and early treatment is key to preventing further damage.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Optic Neuropathy in a Child with Alopecia
A 4-year-old boy's vision and hair loss were likely caused by inflammation.