research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
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270-300 / 1000+ results research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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 Idiopathic unilateral facial hirsutism
A woman had unusual hair growth on one side of her chin without a known cause.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.