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810-840 / 1000+ resultsresearch Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Cutaneous findings and systemic associations in women with polycystic ovary syndrome
Women with PCOS often have more hair growth, skin darkening, and acne, which are linked to hormonal and metabolic issues.
research The Coexistence of Trachyonychia and Mucocutaneous Lichen Planus: A Case Report
Early diagnosis and treatment of nail and skin conditions can improve health and appearance.
research Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
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 BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Virilizing Adrenocortical Oncocytoma in a Child: A Case Report
A rare adrenal tumor in a 14-year-old girl caused male-like symptoms and was successfully removed.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Granuloma Annulare Mimicking Alopecia Mucinosa in a Child: An Atypical Presentation
Biopsy is crucial to correctly diagnose granuloma annulare, which can mimic other conditions like alopecia mucinosa.
research Hyperandrogenism in Adolescent Girls
The conclusion is that a thorough approach is needed to diagnose and manage hyperandrogenism in teenage girls, recognizing its major psychological and health effects.
research Overview of Polycystic Ovary Syndrome (PCOS)
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
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 case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research SAT367 A Rare Case of Ovarian Cellular Fibroma Producing Testosterone
A woman's ovarian fibroma caused high testosterone levels, which normalized after surgery.
research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Post Menopausal Hyperandrogenism: A Case of a Steroid Cell Tumor of the Ovary
A woman's severe hormone imbalance after menopause led to finding a rare ovarian tumor, treated by surgery.
research Skin signs in anorexia nervosa
Anorexia nervosa can cause skin problems, which may help with early diagnosis and usually improve with treatment.
research Adolescent Polycystic Ovary Syndrome
Early diagnosis and multidisciplinary care are crucial for managing PCOS in adolescents.