Disease: Pili torti
- [[Translated article]]Progressive Kinking of the Hair and Pili Torti Secondary to Acitretin
- [Translated article] Progressive Kinking of the Hair and Pili Torti Secondary to Acitretin
- A case of Netherton's syndrome with cerebral infarction
- A case of pili torti in a young adult domestic short-haired cat
- A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis
- A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
- A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1
- A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report
- A Point to Note in Pili Torti
- A Three-Year-Old Girl Who Never Needs a Haircut
- Acquired Pili Torti
- Acquired pili torti--a structural hair shaft defect in anorexia nervosa
- Alopecia in genetic diseases
- Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
- Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Björnstad syndrome in a patient with mental retardation
- Clinical and laboratory features of the Menkes disease
- Clinical evaluation of alopecias using a handheld dermatoscope
- Clinical presentation of pili torti--Case report
- Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships
- Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature
- Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma
- Cochlear implantation in Bjornstad syndrome: a case series with literature review
- Cutaneous T-cell lymphoma in erythrodermic cases may be suspected on the basis of scalp examination with dermoscopy
- Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)
- Dermoscopic features of lichen planopilaris in Northern Iran: a prospective observational study
- Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders
- Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype
- Electro-clinical features and magnetic resonance imaging correlates in Menkes disease
- Evaluation of hair structural abnormalities in children with different neurological diseases
- Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis
- Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization
- Hair anomalies as a sign of mitochondrial disease
- Hair diagnoses and signs: the use of dermatoscopy
- Hair Shaft Abnormalities as a Dermoscopic Feature of Mycosis Fungoides: Pilot Results
- Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia
- Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome?
- Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
- Iliac Artery Aneurysms in Menkes Disease: A Case Report
- In vivo reflectance confocal microscopy: usefulness for diagnosing hair diseases
- Isolated Pili Torti: A Rare Case Revisited
- Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype
- Kinky hair, kinky vessels, and bladder diverticula in Menkes disease
- Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair
- Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period
- Long-standing pili torti in 2 patients with chronic graft-vs-host disease
- Loose Anchoring of Anagen Hairs and Pili Torti due to Erlotinib
- Low prevalence of twisted hair in anorexia nervosa
- Menkes disease in affected females: the clinical disease spectrum
- Menkes kinky hair disease: A case report
- Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome
- Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
- Morphological analyses in fragility of pili torti with Bjornstad syndrome
- Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs
- Netherton syndrome with pili torti
- Netherton's syndrome in siblings
- Neurocutaneous syndrome with hair alterations
- Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
- Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient
- Novel keratin 17 mutations in pachyonychia congenita type 2
- Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
- Picture of the month. Pili torti
- Pilar dysplasia: an early marker of giant axonal neuropathy
- Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature
- Pili Torti as a Sign of Eyebrow Involvement in Frontal Fibrosing Alopecia
- Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a Norwegian family
- Pili torti with congenital deafness (Bjornstad syndrome): a case report
- Pili torti, bleiche und elastische Haut sowie eine schwere neurologische Beeintrachtigung
- Pili torti, pale and elastic skin, and severe neurological impairment
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
- Pili torti: clinical findings, associated disorders, and new insights into mechanisms of hair twisting
- Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I
- Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II
- Progressive Kinking of the Hair and Pili Torti Secondary to Acitretin
- Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings
- Scanning Electron Microscopy of Erlotinib-induced Hair Changes: Pili Torti et Canaliculi
- Scanning Electron Microscopy of Subclinical Gefitinib-Induced Hair Changes
- Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair
- Schopf-Schulz-Passarge syndrome with pili torti: A new association?
- Seizures of unknown etiology associated with brittle hair: A diagnostic challenge
- Sodium valproate-induced kinky hair
- Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia
- Steatocystoma multiplex with hair shaft abnormalities
- Structural abnormalities of the hair shaft
- Syndromic (phenotypic) diarrhea in early infancy
- The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition
- The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36
- The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series
- Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome
- Trichoscopic Features of Linear Morphea on the Scalp
- Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1
- Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia
- Trichoscopy in genetic hair shaft abnormalities
- Trichoscopy in Hair Shaft Disorders
- Trichoscopy update 2011
- Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade
- Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease
- Visual Dermatology: Menkes Disease
- West syndrome as an epileptic presentation in Menkes' disease. Two cases report