research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
research In brief
Pilomatricomas don't follow the usual hair follicle cell differentiation process.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Mirror-image alopecia areata in mirror-image twins
Mirror-image twins can have alopecia areata on opposite sides of their heads.
research リリース：Microsoft RSAT for Windows 7 SP1（20110412-1）
Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
research Alopecia à Deux: Simultaneous Occurrence of Alopecia in a Husband and Wife
A married couple both developed alopecia areata, possibly due to shared stress.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research A novel finding of hair growth like vellus hairs on glabrous skin of distal phalanx of thumb in Vogt–Koyanagi–Harada disease: A case report
Vogt–Koyanagi–Harada disease can cause rare hair growth on normally hairless thumb skin.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Pannexin 3 regulates skin development via Epiprofin
Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
People with certain hair disorders may also have missing permanent teeth.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research TRICHOSTASIS SPINULOSA OR PINSELHAAR
Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research AM UNUSUAL PRESENTATION OF PILOMATRIXOMA
A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.