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]

Z.,4 aged 17, presented herself in January 1946, complaining of extreme shortness and [jamanetwork.com]

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]

Concomitantly these symptoms are present in rare genodermatoses: Bazex-Dupre-Christol syndrome and Jackson-Lawler syndrome. Objective. [termedia.pl]

• Normal Hearing

  The boy was of normal intelligence, had normal sweating and normal hearing, no generalised hypertrichosis, and no ophthalmological abnormalities. Figure 2 Short, stubby hair of patient IV.3. [jmg.bmj.com]

• Leukonychia

  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 [ncbi.nlm.nih.gov]

  External links[edit] Classification D ICD-10: Q84.1 (ILDS Q84.120) MeSH: C562485 C562485, C562485 DiseasesDB: 29682 v t e Congenital malformations and deformations of skin appendages Nail disease Anonychia Leukonychia Pachyonychia congenita/Onychauxis [en.wikipedia.org]

  Arch Derm Syphilol. 1932;26:98-109.Since then, pili torti has been linked with a wide array of congenital defects, including leukonychia, dental abnormalities, keratosis pilaris, dystrophic nails, and ichthyosis.33 Whiting DA. Hair shaft defects. [scielo.br]

  (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]

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]

Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). [rarediseases.org]

Treatment There is no specific treatment of pili torti. The avoidance of trauma to the hair is recommended. Other forms of management include sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, and dying. [encyclopedia.pub]

Springer-Verlag; 2012. p.167-8 There is no specific treatment for pili torti. It may improve spontaneously after puberty. [scielo.br]

There is no specifi c 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, diffi cult to comb hair. The patient had no comorbidities. [ncbi.nlm.nih.gov]

Acquired cases of the disaese may be associated with anorexia nervosa, oral retinoid treatment, malnutrition, or inflammatory scalp conditions, such as cutaneous lupus erythematousus. [xpertdox.com]

[…] 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]

[…] and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 61 Singh G...Miteva M 27292719 2016 22 Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 61 Singh G...Miteva M 27293153 2016 23 Iliac Artery [malacards.org]

In every case of pili torti, the identification of the underlying disorder determines the therapeutic approach and prognosis. [encyclopedia.pub]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology The genetic basis of the disorder/etiology is unknown. [dermatologyadvisor.com]

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 [5]. In inherited forms, the twisting of the hair is caused by an unequal development of the outer root sheath cells. [encyclopedia.pub]

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]

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]

[…] torti onychodysplasia. prevention Because pili torti onychodysplasia is an inherited condition, there is currently no known way to prevent the disease. [wellness.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]