research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
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research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Inherited Hair Disorders
Genetic hair disorders can indicate other hidden health problems.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research L'alopécie androgénétique
Early diagnosis and treatment can help manage hair loss effectively.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Acquired scalp alopecia. Part II: A review
Early diagnosis and treatment are crucial for preventing permanent hair loss in various scalp conditions, and while new treatments are promising, more research is needed to evaluate their effectiveness.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Pseudallescheria boydii infection associated with IgG4-related disease
Gene sequencing is crucial for diagnosing Junctional epidermolysis bullosa.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research A Survey of Women Polycystic Ovarian Disease (PCOD)
Early diagnosis and lifestyle changes are crucial for managing PCOD.
research A Survey of Women Polycystic Ovarian Disease (PCOD)
Early diagnosis and lifestyle changes are crucial for managing PCOD.
research Alopecia fibrosante frontal em mulheres negras: aspectos clínicos, diagnósticos e terapêuticos
Early diagnosis and less aggressive hair care improve outcomes for Black women with frontal fibrosing alopecia.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Increasing of PCOs among Young Females
More young women are getting diagnosed with PCOS, which can lead to other health problems, but early treatment can help.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Hair Biology and Androgenetic Alopecia
Hair loss caused by genetics and hormones; more research needed for treatments.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Pattern Hair Loss in Men
Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research PCOS:Hindsgavl gynækologisk guideline
The guideline offers recommendations for diagnosing and managing PCOS and its complications.