research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
Search
for
Sort by
Research
660-690 / 1000+ results 
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research The Case of the Elusive Androgen
The patient's high testosterone was reduced by a medication that suppresses gonadotropin.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research Hirsutism
Hirsutism is abnormal male-pattern hair growth in females due to excess androgens.
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 Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Postmenopausal hyperandrogenism of ovarian origin
Postmenopausal women with excess male hormones may have ovarian tumors, and surgery usually cures them.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Ovarian hyperthecosis coexisting with an incidental adrenal lesion: challenges in the diagnostic approach
Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis
Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
research ODP021 A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome
A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
research Ovarian Hilus-Cell Hyperplasia and High Serum Testosterone in a Patient With Postmenopausal Virilization
A woman's male-like symptoms and high testosterone were due to ovarian hilus-cell hyperplasia, which improved after surgery.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Endocrinology Update: Hirsutism.
Hirsutism involves excessive hair growth due to hormonal issues and can be treated with medication or surgery.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Hair Matrix Cyst
Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
research Female Pattern Hair Loss in a Patient with 17?-hydroxylase Deficiency
Low androgen levels can still cause female pattern hair loss.
research Postmenopausal Occult Ovarian Disease With Hirsutism – A 6-Year Follow-up Course
Leydig cell tumors can cause hormone issues in postmenopausal women even if imaging looks normal.
research VIRILISATION SECONDARY TO LEYDIG CELL OVARIAN TUMOR IN A POSTMENOPAUSAL WOMAN WITH PRIMARY HYPERPARATHYROIDISM
Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.