Edit concept Question Editor Create issue ticket

Pili Torti

Twisted hair


Presentation

  • The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.[ncbi.nlm.nih.gov]
  • We report a case of pili torti in a child who presented fragile, brittle, difficult to comb hair. The patient had no comorbidities.[ncbi.nlm.nih.gov]
  • We present two new families with this combination of symptoms, and a restudy of a third family. The genetic aspects are discussed.[ncbi.nlm.nih.gov]
  • A 2 1/2-year-old white girl with citrullinemia accompanied by neurologic symptoms presented with 2- to 3-week loss of scalp hair.[ncbi.nlm.nih.gov]
  • This case is presented for its rarity and classical clinical presentation of Björnstad syndrome. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms.[ijtrichology.com]
Hematochezia
  • Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Partial Oral versus Intravenous Antibiotic Treatment of Endocarditis Case 4-2019: An 18-Year-Old Man with Abdominal Pain and Hematochezia Bridging the Gap Challenge Yourself[nejm.org]
Leukonychia
  • A patient with both pili torti and leukonychia had a family history indicating dominant inheritance for the nail changes. However, no relatives had hair abnormalities. The authors briefly review both of these unusual entities.[ncbi.nlm.nih.gov]
  • (30 %) ( White Nails,) Ectrodactyly ectodermal Dysplasia cleft Syndrome (30 %) ( Eec Syndrome, Split Hand split Foot ectodermal Dysplasia cleft Syndrome,) White Nails (30 %) ( Leukonychia,) Anetoderma (30 %) ( Anetoderma Maculosa, Anetoderma Maculosa[gulfdoctor.net]
  • Acta Dermato-Venereologica 53(5): 385-392, 1973 Association of pili torti and leukonychia. Cutis 35(6): 533-534, 1985[eurekamag.com]
  • The more common congenital defects and syndromes associated with pili torti include Beare syndrome (scarce beard and body hair, alopecia after puberty in African descent individuals); Ronchese syndrome (leukonychia, ichthyosis, keratosis pilaris, nail[scielo.br]
Sparse Eyebrows
  • Symptoms - Pili torti Sparse eyebrows Absent eyebrows Sparse eyelashes Absent eyelashes Twisted hair shaft Causes - Pili torti The common cause of pili torti is genetics, and usually develops in early childhood.[checkorphan.org]
Sparse Eyelashes
  • Symptoms - Pili torti Sparse eyebrows Absent eyebrows Sparse eyelashes Absent eyelashes Twisted hair shaft Causes - Pili torti The common cause of pili torti is genetics, and usually develops in early childhood.[checkorphan.org]
Cutaneous Manifestation
  • The cutaneous manifestations of human parvovirus B19 infection. Hum Pathol 2000;31:488-97. 32. Dunkle LM, Arvin AM, Whitley RJ, et al. A controlled trial of acyclovir... ‏ الصفحة 44 - Van AC. Acne update: 2004. Curr Opin Pediatr 2004;16:385.[books.google.com]
Narrow Nose
  • An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry.[ncbi.nlm.nih.gov]

Workup

  • A sepsis workup gave negative results. On day 6, she had a respiratory arrest with hypothermia and hypotension; subsequently a serum ammonia level was obtained and was found to be 1,200 M (normal, less than 35).[kundoc.com]

Treatment

  • Early auditory testing should be performed in children with pili torti in order to secure early treatment of possible associated hearing loss.[ncbi.nlm.nih.gov]
  • There is no specific treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, difficult to comb hair. The patient had no comorbidities.[ncbi.nlm.nih.gov]
  • treatment Currently there is no known cure for pili torti onychodysplasia, and treatment aims to reduce symptoms and prevent or treat complications. Patients with this condition should be regularly seen by a dermatologist and psychologist.[wellness.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • […] torti - developmental delay - neurological abnormalities: Concentration -- Home Testing ADHD -- Home Testing Cold & Flu: Home Testing: Home Fever Tests Home Ear Infection Tests Home Flu Tests Mental Health: Home Testing: Home Emotional Stress Tests Prognosis[checkorphan.org]

Etiology

  • The etiology and genetics of the syndrome however have remained unclear. We report a brother and sister with pili torti and severe bilateral sensorineural hearing loss; the latter became apparent at 3 years of age.[nature.com]
  • Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology[books.google.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • True monilethrix is clinically associated with keratosis pilaris and it has been etiologically well documented that there is a deficiency on the keratin 6.[yumpu.com]
  • Etiology The genetic basis of the disorder/etiology is unknown.[dermatologyadvisor.com]

Pathophysiology

  • Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology and Pathogenesis Hypomelanotic Hair Disorders 2Modelsfor Cultivating Follicular Keratinocytes In Vitro Pathophysiological[books.google.com]
  • A wide range of changes associated with pili torti suggest specific pathophysiological mechanisms, which have irregular hair shafts as their common denominator. Morphological studies of its axis showed no abnormalities in the hair cortex keratin.[ncbi.nlm.nih.gov]

Prevention

  • […] torti onychodysplasia. prevention Because pili torti onychodysplasia is an inherited condition, there is currently no known way to prevent the disease.[wellness.com]
  • Copper replacement is ineffective in preventing the inevitable progressive and lethal neurologic decline, but copper-histidine given immediately postpartum may prevent or ameliorate the severe neurodegeneration[dermaamin.com]
  • Prevention Because pili torti onychodysplasia is an inherited condition, there is currently no known way to prevent the disease. Genetic tests are currently unavailable to detect the presence of pili torti onychodysplasia.[lorisnatural.com]
  • Prevention - Pili torti Not supplied.[checkorphan.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!