research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
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research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
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 Lichen planopilaris [cicatricial (scarring) alopecia] in a child
A 12-year-old boy's hair loss and skin issues improved significantly with medication.
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 Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research Prepubertal Fibrosing Alopecia in a Pattern Distribution
FAPD in children may not depend on androgens and should be treated with anti-inflammatory measures and minoxidil.
research Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome
Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
research Administration of dutasteride in animal models of retinitis pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
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 Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Unmasking pseudopelade of Brocq in male adult: a rare case report
Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Prevention of Murine Sclerodermatous Chronic Graft-Versus-Host Disease by Rapamycin
Rapamycin increased survival in mice with severe chronic graft-versus-host disease by expanding regulatory T cells.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.