research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
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research 7696 Ovarian Steroid Cell Tumor Presenting As Non-classical Adrenal Hyperplasia
Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 -Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research 7452 A Diagnostically Challenging Case of Hyperandrogenism in Postmenopausal Woman
The case highlights the complexity of diagnosing high testosterone in older women and the need for thorough testing.
research 11β-hydroxysteroid dehydrogenase type 1 inhibition attenuates the adverse effects of glucocorticoids on dermal papilla cells
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
research Congenital hypotrichosis due to short anagen
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Idiopathic isolated adrenocorticotropic hormone deficiency combined with testicular germ cell tumor: Case report
A potential link exists between unexplained hormone deficiency, hair loss, and testicular tumors, suggesting thorough screening is needed.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research A Case of Cronkhite-Canada Syndrome with Telogen Effluvium and Onycholysis
Prednisolone treatment improved symptoms and hair regrowth in a patient with Cronkhite-Canada Syndrome.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Glucocorticoids and mineralocorticoids in hair: facilitating accurate diagnosis of adrenal-related endocrine disorders
Hair analysis can help diagnose adrenal disorders non-invasively.