research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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720-750 / 1000+ results research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research LB1029 The common fragrance, linalool, promotes core hair follicle pathology events associated with frontal fibrosing alopecia through activating a cognate olfactory receptor in the bulge
Linalool in fragrances may harm hair follicles and contribute to hair loss.
research Frontal fibrosing alopecia and lichen planopilaris: epidemiology, treatment, and remission rate (2014-2024)
FFA has higher long-term remission rates than LPP.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research DataSheet4_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Prostaglandin D 2 Inhibits Hair Growth and Is Elevated in Bald Scalp of Men with Androgenetic Alopecia
PGD2 stops hair growth and is higher in bald men with AGA.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Therapeutic efficacy of autologous platelet-rich plasma and polydeoxyribonucleotide on female pattern hair loss
PRP injections may improve hair thickness and density in female hair loss patients.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
research Bi-directional association between female pattern hair loss and polycystic ovary syndrome: A systematic review and meta-analysis.
Female pattern hair loss and polycystic ovary syndrome are often linked.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research 328 The transcription factor CEBPB is a novel hub gene and multi-functional disease driver in Psoriatic skin inflammation
ILC1-like cells can cause alopecia areata by themselves.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Higher PDCD4 expression is associated with obesity, insulin resistance, lipid metabolism disorders, and granulosa cell apoptosis in polycystic ovary syndrome
More PDCD4 is linked to obesity, insulin problems, and cell death in ovaries for those with polycystic ovary syndrome.
research Imprinted Dlk1-Gtl2 cluster miRNAs are potential epigenetic regulators of lamb fur quality
miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research A missense mutation in Lama3 causes androgen alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Acquired Hyperpigmentation and Cicatricial Alopecia
The document concludes that doctors should check for frontal fibrosing alopecia in patients with acquired hyperpigmentation and that early treatment is important.
research Lichen Planopilaris Treated With a Peroxisome Proliferator–Activated Receptor γ Agonist
A specific drug can help treat Lichen Planopilaris, a condition causing permanent hair loss.