research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
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720-750 / 1000+ results research Skin morphology of the mutant hairless USP mouse
Hairless USP mice have enlarged skin cysts as they age.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research Hair shaft disorders in a child with loose anagen syndrome and uncombable hair: Clues to an underlying genetic disorder
research Faculty Opinions recommendation of Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia.
Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.
research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Temporal triangular alopecia
A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Polyhydroxyalkanoates: Medical Applications and Potential for Use in Dentistry
PHAs are promising biodegradable materials for medical and dental uses.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Early leonine facies with alopecia in a young man
A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research DPSCs and SHED in Tissue Engineering and Regenerative Medicine
DPSCs and SHED have great potential for medical treatments and tissue repair.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Hair shaft disorders: a rare case series
The document concludes that proper diagnosis and treatment of hair shaft disorders require understanding their unique causes and avoiding hair-damaging practices.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Absence of Prostatic Growth in Large Cohort of Adult Female Patients with Congenital Adrenal Hyperplasia
Women with congenital adrenal hyperplasia showed no prostatic growth.
research Central trichoptilosis with onycholysis
Hair splitting and nail detachment are linked conditions.
research 0882 Patterning and regional specification of hairy skin
Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research 613 Assessment of the induction and morphogenic potential of human hair matrix cells and dermal papilla fibroblasts ex vivo
Human hair matrix cells and dermal papilla fibroblasts can form early hair follicle structures but don't produce hair shafts yet.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
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.