research Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason)
Tigason improved hair growth in a boy with monilethrix without side effects.
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research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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 Expression of transforming growth factor-beta (TGF-beta 1) and insulin-like growth factor II (IGF-II) messenger RNA in the developing subcutaneous tissue (SQ) of the fetal pig.
TGF-beta 1 and IGF-II mRNA have specific patterns in pig subcutaneous tissue, affecting fat and muscle development.
research A matter of excessive hair growth
A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Low serum biotin in Japanese children fed with hydrolysate formula
Japanese infants fed hydrolysate formula may have low biotin levels.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Primary hypothyroidism with exuberant dermatological manifestations
Thyroid disease can cause skin and hair changes, treatable with levothyroxine.
research SUN-439 Hypothalamic-Pituitary-Adrenal Axis Disruption from Unregulated Glucocorticoid Use: A Case Series
Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research The Rapunzel syndrome: is it an Asian problem? (case report and review of literature)
Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
research Case 18-2018: A 45-Year-Old Woman with Hypertension, Fatigue, and Altered Mental Status
A woman with Cushing's syndrome improved after surgery to remove a tumor causing the condition.
research Hiperandrogenismo causado por tumor de células de Leydig de ovario
A woman's excess male hormone symptoms were caused by a rare benign tumor in her ovary.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research 332 Generation of a gene expression signature for sebaceous glands by transcriptome comparison of psoriasis and sebaceous hyperplasia
Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
research Hyperandrogenismus, adrenale Dysfunktion und Hirsutismus
Excessive male hormones in women cause symptoms like unwanted hair growth, and treatment requires careful medical evaluation.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research POSTMENOPAUSAL HIRSUTISM: A CASE REPORT
A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.