research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
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840-870 / 1000+ resultsresearch A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Clinical features and treatment outcomes of frontal fibrosing alopecia in men
FFA in men shows unique features and treatment results vary widely.
research Focal Asymptomatic Hair Loss in an Adolescent: A Case Report
A 13-year-old boy had a rare, stable type of hair loss with little chance of regrowth, but treatment is available for looks.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research 190 A cross-sectional study evaluating skin, hair, nail and bone disease in patients with focal dermal hypoplasia
Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
research 253 Frontal fibrosing alopecia: clinical and therapeutic considerations - case series
Early treatment and multidisciplinary care are key to managing Frontal Fibrosing Alopecia and preventing further hair loss.
research The Suppression Effects of Fat Mass and Obesity Associated Gene on the Hair Follicle-Derived Neural Crest Stem Cells Differentiating into Melanocyte by N6-Methyladenosine Modifying Microphthalmia-Associated Transcription Factor
The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle
Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Patterned Hair Loss
A 47-year-old man was diagnosed with a specific type of hair loss and advised to use certain medications and avoid hair transplants.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Acneiform follicular mucinosis
Acneiform follicular mucinosis can be controlled with systemic corticosteroids.
research Frontal Fibrosing Alopecia: A Review
Frontal Fibrosing Alopecia's cause is unclear, affects mainly postmenopausal women, and current treatments focus on stopping hair loss rather than regrowth.
research Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats
research Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss
Certain gene changes and hormone levels are linked to female hair loss.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research The “Dorian Gray Syndrome”: psychodynamic need for hair growth restorers and other “fountains of youth”
People obsessed with looking young may need therapy to address deeper issues.