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]

@inproceedings{Yang2015ClinicalPO, title={Clinical presentation of pili torti - Case report*}, author={Jeane Jeong Hoon Yang and Karine Valentim Cade and Fl{\'a}via Cury Rezende and Jos{\'e} M. [semanticscholar.org]

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

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]

• Weakness

  Thus, the weakness of pili torti in tensile strength is thought to result from loose IF because of dysformation of disulfide bonds. [ncbi.nlm.nih.gov]

  Menkes disease typically begins during infancy, and the victim might experience other, more serious symptoms such as seizures, mental retardation and weak muscle tone. [wisegeek.com]

  When a weak hair shaft partially fractures and the cortical cells fragment, uneven spurs form at the fracture point. [dermnetnz.org]

• Short Stature

  Trichothiodystrophy may occur as an isolated hair shaft abnormality or may be associated with photosensitivity, ichthyosis, brittle hair, mental retardation, short stature, neurologic abnormalities, and nail and teeth dystrophy (Tay syndrome, OMIM ID [dermnetnz.org]

  Stature Syndrome (33 %) ( Ibids Syndrome, Sulfur-deficient Brittle Hair Syndrome, Tays Syndrome, Trichothiodystrophy, Trichothiodystrophy With Ichthyosis,) Epidermal Cyst (33 %) ( Epidermal Inclusion Cyst, Epidermoid Cyst, Infundibular Cyst, Keratin [gulfdoctor.net]

  Other associations include aminoaciduria, recurrent infections, neurological deficits, delayed growth, short stature and failure to thrive. [ijtrichology.com]

  stature, asymmetric short limbs, vertebral malformations, hip dysplasia, chondrodysplasia punctata, follicular atrophoderma, abnormal nails, craniofacial anomalies, cataracts - Crandall syndrome [27] NK (AR) neurosensory deafness, hypogonadism with decreased [mdpi.com]

• Male Hypogonadism

  Underdevelopment of the ovaries of affected females or the testes of affected males (hypogonadism) has occurred in association with Björnstad syndrome. [rarediseases.org]

• Vomiting

  follicular atrophoderma, multiple basal cell carcinomas, milia, hypohidrosis trichorrhexis nodosa Björnstad syndrome [20,21] BCS1L gene (AR, AD) sensorineural hearing loss - Citrullinemia [22] ASS1 gene (AR) hyperammonemia, lethargy, poor feeding, vomiting [mdpi.com]

• Hearing Impairment

  Hearing impairment and deafness may be seen in about 10% of the patients. Symptoms also include dryness of hair, coarseness of hair, nail anomalies, hypoplasia of dental enamel, hyperkeratosis pilaris and nail dystrophy. [xpertdox.com]

  impairment Deafness Hearing defect [ more ] 0000365 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Autosomal recessive inheritance 0000007 Coarse hair Coarse hair texture 0002208 Dry hair [rarediseases.info.nih.gov]

• Brittle Hair

  PILI TORTI The short and brittle hairs in patients with pili torti, when viewed through a microscope, appear flattened and twisted through 90° to 360°. [dermaamin.com]

  Clinical examination showed dry, lustreless, fragile, and brittle hair of scalp and sparse hairs involving eyebrows [Figure 1]. [ijtrichology.com]

  Lusterless, opaque, scarce blond hair. Pili torti. Thick, coarse and brittle hair in the left occipitotemporal region. Pili torti. [ncbi.nlm.nih.gov]

• Kinky Hair

  Menkes disease is also known as copper transport disease, Menkes syndrome, kinky hair disease, Menkes kinky hair syndrome or steely hair disease. Pili torti might be the signal of any of several other medical issues besides Menkes disease. [wisegeek.com]

  Hair Syndrome (40 %) ( Kinky Hair Disease, Menkes Disease,) Follicular Atrophoderma (40 %) Biotinidase Deficiency (40 %) Lichen Planopilaris (37 %) ( Acuminatus, Follicular Lichen Planus, Lichen Planus Follicularis, Peripilaris,) Nevus Sebaceous (37 [gulfdoctor.net]

  kinky hair syndrome, associated with mental retardation. [medical-dictionary.thefreedictionary.com]

• Blonde Hair

  Lusterless, opaque, scarce blond hair. Pili torti. Thick, coarse and brittle hair in the left occipitotemporal region. Pili torti. [ncbi.nlm.nih.gov]

  Lusterless, opaque, scarce blond hair. FIGURE 2 Pili torti. Thick, coarse and brittle hair in the left occipitotemporal region. FIGURE 3 Pili torti. [scielo.br]

• Sweating

  If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.[3061] There is no specific treatment for this condition, but it may improve spontaneously [rarediseases.org]

  Abstract A female case of palmoplantar hyperkeratosis, twisted hair, reduced sweat secretion, aplasia of several permanent teeth and sensorineural hearing loss is described. [tandfonline.com]

  Skin System The skin or integumentary system is made up of skin, hair, nails, sweat glands, and oil glands. Common symptoms of problems in the skin system include redness, swelling, burning, itching, rashes, and hives. [rarediseases.info.nih.gov]

  Page(s) : 91-7 Année de parution : 2000 Hair shaft abnormalities are found in a number of syndromes involving tissues and organs of ectodermal origin; nails, teeth, sweat glands [1-4]. [jle.com]

  Their classification was developed by Freire-Maia and Pinheiro,1 with malformations of the hair, teeth, nails, and sweat glands as the major criteria. [jmg.bmj.com]

• Dry Skin

  These individuals displayed the symptoms listed above as well as dry skin, eczema, cleft lip and palate, and dental abnormalities. [lorisnatural.com]

  Interestingly, the blood LDL fraction in his mother, who suffered from dry skin, also showed increased migration, pointing towards carrier status for X linked ichthyosis.2His maternal grandfather was said also to have suffered from scaly skin. [jmg.bmj.com]

  skin trichorrhexis nodosa Table 3. [mdpi.com]

  The skin is dry and hypopigmented, and she has severe developmental delay. No copper treatment was given. [ojrd.biomedcentral.com]

• Suggestibility

  More recent research suggests that these alterations may occur in the face of mitochondrial dysfunction and may be influenced by the presence of reactive oxygen species. [ncbi.nlm.nih.gov]

  Our results suggested that these abnormalities in pili torti had already occurred below the infundibulum. Thus, the weakness of pili torti in tensile strength is thought to result from loose IF because of dysformation of disulfide bonds. [wwww.unboundmedicine.com]

• Confusion

  الصفحة 55 - Happle R (1998) Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue. Am J Med Genet 79:64-65 Hart TC, Bowden DW, Bolyard J et al. ‏ [books.google.com]

  Because there is no definitive genetic test for pili torti onychodysplasia, there is a small chance that the symptoms of this condition could be confused for those of another ectodermal dysplasia with similar symptoms. [lorisnatural.com]

  Pili torti is often misdiagnosed and can be also confused with monilethrix because an oval fiber, when twisted, resembles one with variations in diameter when seen in a light microscope. [yumpu.com]

  86021 Poitiers, France (Note : for Links provided by Atlas : click ) Other names Bazex syndrome Follicular atrophoderma and basal cell carcinomas Atlas_Id 10096 Note Bazex-Dupré-Christol syndrome (Bazex et al., 1964; Bazex et al., 1966) should not be confused [atlasgeneticsoncology.org]

• Delayed Milestone

  There was no history of delayed milestones. Clinical examination showed dry, lustreless, fragile, and brittle hair of scalp and sparse hairs involving eyebrows [Figure 1]. [ijtrichology.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]

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]

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]

2019/11/6/238/275962 Small-molecule inhibitors of epidermal growth factor receptor (EGFR), such as erlotinib, have been used in the treatment of solid tumors, including non-small cell lung cancer and in the treatment of advanced nonoperable pancreatic [ijtrichology.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]

[…] 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]

[…] 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]

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

In every case of pili torti, the identification of the underlying disorder determines the therapeutic approach and prognosis. Author Contributions Conceptualization, A.W.-B. and L.R.; methodology, A.W. [mdpi.com]

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]

Epidemiology, clinical presentation and therapeutic approach in a multicentre series of dissecting cellulitis of the scalp. J. Eur. Acad. Dermatol. Venereol. 2017, 31, e199–e200. [mdpi.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. [scielo.br]

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]