Trichorrhexis nodosa. Clinical and investigative studies

Chernosky, Marvin E.

doi:10.1001/archderm.94.5.577

Cited by 26 publications

(4 citation statements)

References 15 publications

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“…Trichorrhexis nodosa is the most common defect in the hair shaft, leading to hair breakage (4). The primary abnormality is a focal loss of cuticles, causing fraying of the cortical fibers (5,6). It can occur congenitally or can be acquired from chemical or physical trauma.…”

Section: Discussionmentioning

confidence: 99%

Intractable Diarrhea of Infancy with Facial Dysmorphism, Trichorrhexis Nodosa, and Cirrhosis

Landers

Schroeder

2003

Pediatric Dermatology

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A 3-year-old girl had severe intractable diarrhea with trichorrhexis nodosa and cirrhosis. This patient was referred to the pediatric dermatology clinic for lifelong brittle hair. The brittle hair microscopically demonstrated trichorrhexis nodosa. The girl also had facial dysmorphism, with a prominent forehead and cheeks, broad flat nose, and hypertelorism. She had a history of severe intractable diarrhea since 2 weeks of age and failure to thrive requiring lifelong total parenteral nutrition (TPN). Hepatomegaly was noted and prompted liver biopsy which demonstrated cirrhosis. Mental retardation and developmental delay was also found upon examination. This child may be included in the syndrome of intractable infant diarrhea, an entity known in the gastroenterology literature but yet not reported in the dermatologic literature. Dermatologists should be aware of this syndrome in which trichorrhexis nodosa is commonly seen.

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Section: Discussionmentioning

confidence: 99%

Intractable Diarrhea of Infancy with Facial Dysmorphism, Trichorrhexis Nodosa, and Cirrhosis

Landers

Schroeder

2003

Pediatric Dermatology

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“…PT has been reported in association with other genetic hair shaft abnormalities 32,98,105,127,[183][184][185][186][187][188][189] (Table IV).…”

Section: Trichorrhexis Invaginatamentioning

confidence: 99%

The genetics of hair shaft disorders

Cheng

Bayliss

2008

Journal of the American Academy of Dermatology

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“…2). Trichorrhexis nodosa may be found in patients whose hair has been severely traumatized (Chernosky andOwens 1966, Papa et a/. 1972) and occurs in several metabolic neurological diseases including Menkes disease (Menkes et a/.…”

Section: Trichorrhexis Nodosamentioning

confidence: 99%

Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases

Coulter¹,

Beals²,

Allen³

1982

Develop Med Child Neuro

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SUMMARY Six children with morphological hair‐shaft abnormalities and neurological disease are presented, including two with Pollitt syndrome, one with biotin deficiency, two with Menkes diseases and one with argininosuccinic aciduria. The child with biotin deficiency grew normal hair following oral biotin therapy. Although the hair‐shaft abnormalities may be seen with light microscopy (LM), they are best visualised with scanning electron‐microscopy (SEM). Pili torti may be mistaken for monilethrix by LM, but SEM shows the true defect. A review of the literature shows that these hair‐shaft abnormalities (trichorrhexis nodosa, monilethrix and pili torti) are not specific or pathognomonic, but do indicate a group of neurological disorders, including potentially treatable inborn errors of metabolism. The term ‘neurotrichosis’ is suggested to classify this group of disorders. RÉSUMÉ L'article décrit six enfants présentant des anomalies morphologiques de l'axe du cheveu au cours d'une affection neurologique comprenant deux syndromes de Pollitt, une déficience en biotine, deux maladies de Menkes et une acidurie arginosuccinique. L'enfant présentant une deficience en biotine eut un développement des cheveux normal après observées en microscopie optique (LM), elles sont mieux appréciées au microscope électronique à balayage (SEM). Un pili torti peut être qualifie à tort de monilethrix au LM, mais le SEM montre le défaut véritable. Une revue de la litérature montre que ces anomalies de l'axe du cheveu (trichorrhexie nodosa, monilethrix et pili torti) ne sont pas spé cifiques ou pathognomoniques, mais indiquent l'existence de désordres neurologiques constituant un groupe qui inclut les erreurs innées de métabolisme potentiellement curables, Le terme ‘neurotrichose’ est suggéré pour définir ce groupe de troubles. ZUSAMMENFASSUNG Sechs Kinder mit morphologischer Haarschftanomalie und neurologischer Erkrankung werden vorgestellt, zwei davon hatten ein Pollitt Syndrom, eins hatte Biotinmangel, zwei hatten die Menkes' Erkrankung und eins hatte ein Arginin succinacidurie. Das Kind mit dem Biotinmangel bekam nach Biotintherapie normale Haare. Obwohl die Haarschaftanomalie auch im Lichtmikroskop (LM) geshen werden kann, kann sie am besten im Scanning Elektronenmikroskop (SEM) dargestellt werden. Pili torti können im LM fälschlicherweise als Monilethrix angesehen werden, aber im SEM zeigt sich der wirkliche Defekt. Ein Überblick über die Literatur zeigt, daß die Haarschaftanomalien (Trichorrhexis nodosda, Monilethrix und Pili torti) nicht spezifisch oder pathognomonisch sind, aber daß sie ein Hinweis sind auf eine Gruppe neurologischer Erkrankungen, unter denen auch eventuell therapierbare angeborene Stoffwechselerkrankungen sind, Die Bezeichung ‘Neurotrichosis’ wird vorgeschlagen, um diese Gruppe von Erkrankungen zu klassifizieren. RESUMEN Se presentan seis niños con anomalias del tallo del cabello y enfermedad neurológica, incluyéndose dos sindromes de Pollitt, uno con deficiencia de biotina, dos con enfermedad de Menkes y uno con...

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Trichorrhexis nodosa. Clinical and investigative studies

Cited by 26 publications

References 15 publications

Intractable Diarrhea of Infancy with Facial Dysmorphism, Trichorrhexis Nodosa, and Cirrhosis

Intractable Diarrhea of Infancy with Facial Dysmorphism, Trichorrhexis Nodosa, and Cirrhosis

The genetics of hair shaft disorders

Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases

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