Light microscopy of the hair was normal in three patients, with pili torti present in the fourth. Electron microscopy of hairs from all four children revealed longitudinal grooves in the hair shaft, diagnostic of uncombable-hair syndrome. [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

• Pain

  Diseases related with Pain and Hypertrichosis In the following list you will find some of the most common rare diseases related to Pain and Hypertrichosis that can help you solving undiagnosed cases. [mendelian.co]

  Uncombable hair: a real pain to deal with. Uncombable Hair Syndrome: an actual pain to deal with on the daily. So the next time you're having a bad hair day, remember — at least it's not every day. [bustle.com]

  ‘It gets so knotted it turns into dreadlocks and becomes painful to comb. She also gets uncomfortable as the hair traps heat. [dailymail.co.uk]

  Clips or headbands against her scalp are painful, so ponytails are out. The family has begun documenting Shilah’s experience on Instagram to share how special she is and make others aware of the syndrome. [today.com]

• Falling

  READ THE REST Google+ accounts and pages will be shut down April 2nd, says Google Google announced last fall it’s killing off Google+ because of the social network’s laughably “low usage” and “challenges involved in maintaining a successful product that [boingboing.net]

  When she was an infant, Cara claimed that Taylor's hair was very fuzzy and that she and her husband expected it to fall out, but it never did. Cara stated that Taylor's hair would stand completely on its own and no amount of products would help. [techtimes.com]

  Bad hair days are the bane of our existence, whether the gel fails to hold up our spikes, or the hairspray makes our hair fall flat. Either way we style it, our locks fail to stay in place, leaving us disgruntled. [medicaldaily.com]

• Short Stature

  Related symptoms: Autosomal dominant inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: UMLS OMIM MONDO More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS Low match MULTICENTRIC OSTEOLYSIS [mendelian.co]

  Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, in the United States, physicians who practice clinical genetics are accredited by the American Board of Medical [wikivisually.com]

  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]

• Pathologist

  This new edition is an absolute must for practicing dermatopathologists and general pathologists who sign out skin biopsies. [books.google.com]

  All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.de]

• Rigor

  By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.de]

• Splenomegaly

  Growth delay Nystagmus Peripheral neuropathy Abnormality of the skeletal system Vomiting Clinodactyly Paralysis Scarring Recurrent infections Proteinuria Cholelithiasis Albinism White hair Fragile nails High palate Hepatomegaly Macrocephaly Woolly hair Splenomegaly [mendelian.co]

• Tachycardia

  Generalized hypotonia Scoliosis Abnormal facial shape Low-set ears Epicanthus Prominent forehead Coarse facial features Thin upper lip vermilion Infantile onset Wide nasal bridge Frontal bossing Abnormal blistering of the skin Visual hallucinations Thin skin Tachycardia [mendelian.co]

• Osteoporosis

  Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. [mendelian.co]

• Myalgia

  Smooth philtrum Joint hypermobility High, narrow palate Macroglossia Auditory hallucinations Memory impairment Hoarse voice Cognitive impairment Trichodysplasia Sporadic Polycystic ovaries Nephrotic syndrome Autoimmunity Hepatic steatosis Nephropathy Myalgia [mendelian.co]

• Muscle Weakness

  Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. [mendelian.co]

• Alopecia

  and psoriatic alopecia, and chemotherapy-induced alopecia. [books.google.es]

  A 7-year-old female presented with messy, difficult to manage scalp hair and mild, diffuse alopecia. Hair pull specimens, diagnostic for loose anagen hair syndrome, also showed hair shaft abnormalities described in the uncombable hair syndrome. [ncbi.nlm.nih.gov]

  Uncombable hair may be idiopathic or associated with ectodermal dysplasia, progressive alopecia, atopic eczema, dental dysplasia, or ichthyosis vulgaris A condition in which the hair shaft is triangular in cross-section and often has a groove; seen in [medical-dictionary.thefreedictionary.com]

  This is especially true in the field of Alopecia Universalis, a rare but extreme form of the autoimmune disorder Alopecia Areata. [belgraviacentre.com]

  Observation of 6 members of a family with pili canaliculi, associated with pili torti, progressive alopecia, atopic eczema and hamartomas. [eurekamag.com]

• Dry Hair

  Usually, those affected have very frizzy and dry hair that’s generally blond and shiny and are typically found hiding in a corner far away from the comb and detangler. [sheknows.com]

  The quantity of hair remains normal, but the hair often grows slowly. [5] Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat. [3 [rarediseases.info.nih.gov]

  Top matches: Low match UNCOMBABLE HAIR SYNDROME 1; UHS1 Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions [mendelian.co]

• Hirsutism

  Coarse face and body hirsutism are additional features. [mendelian.co]

  It was likely first described in the book 'Les Velus' (the Hirsute) where an affected individual was described as having mop hair [7]. [ijcasereportsandimages.com]

• Confusion

  While there's no proven cure for uncombable hair syndrome, the new study could offer relief to people confused about why their hair looks the way it does. [motherboard.vice.com]

  […] facial features Thin upper lip vermilion Infantile onset Wide nasal bridge Frontal bossing Abnormal blistering of the skin Visual hallucinations Thin skin Tachycardia Hypermelanotic macule Irritability Nausea and vomiting Cutaneous photosensitivity Confusion [mendelian.co]

Management and treatment UHS spontaneously regresses in late childhood and only gentle care including conditioners, soft brushes and avoidance of harsh treatments cares of the hair are recommended. [orpha.net]

Hair thinning caused by genetics can be dealt with by a specialist through the tailoring of a customised hair loss treatment programme featuring clinically-proven treatments, and boosters where appropriate. [belgraviacentre.com]

There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. [rarediseases.info.nih.gov]

Uncombable Hair Syndrome Treatment There is no definitive treatment for uncombable hair syndrome, but the condition does improve or resolves on its own, with the onset of puberty. [medicaldaily.com]

The mechanism by which such treatment may improve the hair is unclear, and ultrastructural studies of hair post-treatment have failed to show any ultrastructural changes. [dermatologyadvisor.com]

Prognosis - Uncombable hair syndrome Not supplied. Treatment - Uncombable hair syndrome Not supplied. Resources - Uncombable hair syndrome Not supplied. [checkorphan.org]

Read: Boy, 10, Spends 2 Years Growing Hair He Donated to Make Wig for Friend, 12, With Alopecia “[There is] no cure for this, but the prognosis of this is really good,” Dr. Bree said. [clickondetroit.com]

[…] growth after 4 months of supplementation. [6] Last updated: 12/19/2016 Uncombable hair syndrome (UHS) usually resolves on its own (spontaneously) by adolescence. [6] Treatment is usually not necessary. [1] In the cases, where UHS is part of syndrome, the prognosis [rarediseases.info.nih.gov]

Etiology The stiffness and brightness of hair are supposed to result from a misshapen dermal papilla inducing an anomaly in the keratinization of the inner root sheath. [orpha.net]

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

McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J. [books.google.com]

Summary Epidemiology Prevalence is unknown. Clinical description Onset is usually between ages 3 months and 12 years. [orpha.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

Pathophysiology The irregular and changing shapes of the hair cross section prevent adjacent hairs from lying flat or forming locks, and this accounts for the stand away and spangled appearance. [dermatologyadvisor.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

Arsenic poisoning Arterial insufficiency Burns Cutaneous T-cell lymphoma TopDissecting cellulitis of the scalp Dissecting cellulitis of the scalp Exfoliative dermatitis Fungal infections Hodgkin’s disease Hypopituitarism Hypothyroidism Hypothyroidism Prevention [checkorphan.org]

Images: SWNS Read more: How your hair changes during your pregnancy Time-saving tricks to try with your toddler How to prevent head lice [madeformums.com]

Their mother can also only wash their hair once a week to prevent it becoming matted. She said: 'We hardly use any shampoo, as that makes the frizz worse. I'll use a lot of conditioner, though. We get through a bottle a week.' [dailymail.co.uk]

Pathophysiology The irregular and changing shapes of the hair cross section prevent adjacent hairs from lying flat or forming locks, and this accounts for the stand away and spangled appearance. [dermatologyadvisor.com]