Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia

Gyure, Kymberly A.; Kurczynski, Thaddeus W.; Gunning, William; French, Beatrice N.

doi:10.1016/0887-8994(92)90012-n

Cited by 9 publications

(1 citation statement)

References 16 publications

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“…18 Although most cases of trichorrhexis invaginata appear currently to be associated with Netherton's syndrome, other rare genetic syndromes with this feature have also been reported, including siblings with an autosomal recessive condition characterised by progressive neurological deterioration and trichorrhexis invaginata. 19 Increasing use of morphological examination of hair in children with a range of indications will probably lead to further syndromes being reported. Although we have included cases of Griscelli and Chediak-Higashi syndrome separately in our study, it should be noted that the microscopic hair appearances in these conditions are very similar, both demonstrating abnormal pigment clumping within the shaft.…”

Section: Discussionmentioning

confidence: 99%

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre

Smith

Anderson²,

Malone³

et al. 2005

J Clin Pathol

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Background: Microscopic examination of scalp hair can provide important diagnostic information in a range of paediatric conditions. It is a non-invasive and cost effective investigation, which is not widely performed. Aims: To examine retrospectively the value of hair examination by light microscopy, including polarising microscopy, in a specialist paediatric pathology department during a 15 year period (1989)(1990)(1991)(1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004) and to describe the morphological abnormalities indicative of specific paediatric conditions. Methods: Three hundred and twenty two hair samples were submitted. Microscopic changes were analysed in the light of clinical information categorised as: (1) erythroderma, (2) neurological impairment, (3) immunological/haematological defect, (4) ectodermal dysplasia, (5) abnormal hair only, and (6) nonspecific/absent clinical details. Results: Abnormalities were evident in 49% of the samples. In 25%, the changes were compatible with specific diagnoses including Menkes disease, Netherton's syndrome, trichothiodystrophy, Griscelli and Chediak-Higashi syndromes, monilethrix, uncombable hair, and loose anagen syndromes. In respect of the clinical presentation groups noted above, diagnostic changes were seen in 41%, 32%, 33%, 0%, 29%, and 0%, respectively. Conclusions: Morphological light microscopic examination of scalp hair is an inexpensive, rapid, and non-invasive investigation, which can provide valuable diagnostic information in a range of paediatric conditions.

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Section: Discussionmentioning

confidence: 99%

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre

Smith

Anderson²,

Malone³

et al. 2005

J Clin Pathol

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Inherited Hair Disorders

Sprecher

2016

Rook's Textbook of Dermatology, Ninth Edition

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Inherited Hair Disorders

Sprecher

2024

Rook's Textbook of Dermatology

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Congenital and inherited disorders of hair growth and differentiation, also known as genotrichoses, can be subdivided into conditions associated with either excessive hair growth, known as hypertrichoses , or defective hair development or alopecias . Some of these disorders feature isolated hair abnormalities, others are associated with extracutaneous manifestations and as such require careful surveillance or timely interventions for possible complications.

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Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia

Cited by 9 publications

References 16 publications

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre

Inherited Hair Disorders

Inherited Hair Disorders

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