research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
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960-990 / 1000+ resultsresearch Hirsutism and Menstrual Irregularity in a 16-year-old Girl
The girl's hirsutism and menstrual issues were caused by a benign ovarian tumor, which was successfully removed.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Virilizing insulinoma
A rare pancreatic tumor caused a woman's male-like features, treated successfully with surgery and medication.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research A RARE ENCOUNTER
Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Clinical presentations of polycystic ovary syndrome in a tertiary care centre of southern Rajasthan, India
The document's conclusion cannot be provided as the content is not available for summarization.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Pregnancy during the course of Cushing’s syndrome: a case report and literature review
Pregnancy with Cushing's syndrome is rare and risky for both mother and baby, needing early diagnosis and treatment.
research Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: An ultrastructural study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research Hyperprogesteronemia associated with Sertoli cell tumor and alopecia in a dog
Castration helped a dog with a tumor and hair loss by normalizing hormone levels and regrowing hair.
research Finasteride Blocks the Reduction in Ictal Activity Produced by Exogenous Estrous Cyclicity
research 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial
Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
research Virilizing adrenocortical tumor: a case report
The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.
research Hair tourniquet syndrome
Hair tourniquet syndrome is a rare condition where hair wraps around an infant's body part, needing quick removal to prevent damage.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.
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 Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.