research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
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research 1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
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 Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research The structure of hair and follicles of mice carrying the naked (N) gene
Mice with the naked gene have missing or abnormal hair cells.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research The diagnosis of androgenetic alopecia in children: Considerations of pathophysiological plausibility
AGA in children needs careful diagnosis due to low androgen levels and possible other causes.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Planar cell polarity-dependent and independent functions in the emergence of tissue-scale hair follicle patterns
Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.
research Pili Annulati with Multiple Fragile Hairs
Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
research Immunofluorescence analysis of the basement membrane zone components in human anagen hair follicles
The upper hair follicle is stable, while the lower part allows movement during hair growth.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.