research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
Search
for
Sort by
Research
330-360 / 1000+ results 
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Woman with hyperpigmented plaque and alopecia
The treatment didn't work for the woman's hair loss and skin darkening.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Alopecia areata in childhood
Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Alopecia areata: Clinical presentation, diagnosis, and unusual cases
Alopecia areata is a hair loss condition that often starts before age 30 and can affect various body parts, with unpredictable hair regrowth chances.
research Tyrosinase Depletion Prevents the Maturation of Melanosomes in the Mouse Hair Follicle
Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Alopecia Areata and Medical Modulation of the Intrinsic Property of Melanin to Transform Light Into Chemical Energy Through the Water Dissociation
Enhancing melanin's energy generation may help treat alopecia areata.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Reversible hyperpigmentation of skin and nails with white hair due to vitamin B12 deficiency
Vitamin B12 deficiency can cause skin and hair color changes, which can be reversed with treatment.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research The genetics of alopecia areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research The Relationship Between ABO And Rh Blood Groups With Alopecia Areata
AB+ blood group is more common in alopecia areata patients.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q
Topical corticosteroids are the best initial treatment for children with Alopecia Areata.
research A pair of transmembrane receptors essential for the retention and pigmentation of hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.