research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
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570-600 / 1000+ resultsresearch Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Frontal fibrosing alopecia associated with lichen planus pigmentosum
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Dermatological concerns for women and girls with turner syndrome
Early dermatological referrals are important for women and girls with Turner syndrome to improve life quality.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Nevoid Basal Cell Carcinoma Syndrome
Nevoid basal cell carcinomas start in the skin and hair follicles.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Metabolic syndrome in androgenetic alopecia patients; Is serum regulated on activation, normal T‐cell expressed and secreted the missing link?
Possible link between hair loss and metabolic syndrome, with RANTES as a potential clue.
research Brandt Syndrome
Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research Alopecia areata totalis bei 19-jähriger Patientin mit Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)
A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
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 What’s new in Birt–Hogg–Dubé syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.