research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
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960-990 / 1000+ resultsresearch Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research The association between androgenic alopecia severity and the development of metabolic syndrome in Saudi Arabia: A case-control study
There's a significant link between severe hair loss and metabolic syndrome in Saudi Arabia, suggesting early health checks could prevent future issues.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research A Clinical Study of Androgenic Alopecia (VII)
More men have Androgenic Alopecia than women, it's often inherited, and stress can contribute to it.
research Androgenetik Alopesi
Androgenetic alopecia causes hair loss, affects men more severely, and treatments are only temporarily effective.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research A Very Rare Reason for Hyperandrogenism: Adrenal Tumor Case
A young woman had a rare tumor causing high male hormone levels and symptoms like excessive hair and acne. After removing the tumor, her hormone levels returned to normal. Early diagnosis is important.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research Sertoli-Leydig tumor in a 17-year-old girl: a case report
A 17-year-old girl was diagnosed with a rare ovarian tumor, emphasizing the need for fertility preservation and psychosocial care.
research Female Androgenetic Alopecia: A Separate Entity
Female and male AGA are different diseases.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Erosive pustular dermatosis of the scalp due to EGFR inhibitors: A multicentric study by EADV task force of ‘Dermatology for Cancer Patients’
Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research A Case of Virilizing Brenner Tumor in a Postmenopausal Woman With Stromal Androgenic Activity
A postmenopausal woman's hormone imbalance and symptoms improved after removing benign ovarian tumors.
research Hyperandrogenism in a postmenopausal woman: a rare case of ectopic adrenal cortical gland
A postmenopausal woman's excess male hormone symptoms were caused by a rare adrenal gland tissue in her ovary.
research SCAR DUE TO SULFUR MUSTARD GAS ON THIGH WITH CHERRYANGIOMAS, DECREASED HAIR GROWTH AND PIGMENTARYDISORDER: A CASE REPORT
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research A rare case of Cushing syndrome with virilization
A 10-year-old girl's symptoms improved after surgery to remove a benign adrenal tumor.
research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Endocrine Therapy of Adult Gender-Incongruent Individuals Seeking Gender Reaffirmation
Hormone therapy greatly improves the quality of life for adults seeking gender reaffirmation, but more research is needed in India.
research 6 Current concepts of polycystic ovary syndrome
PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.