Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Pollitt, R. J.; Jenner, F. A.; Davies, M.

doi:10.1136/adc.43.228.211

Cited by 139 publications

(62 citation statements)

References 28 publications

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“…Light microscopy shows trichoschisis [2] (trans verse fractures through the hair shafts) and scanning elec tron microscopy reveals absent or damaged hair cuticles [1]. Chemical analysis shows a low sulfur content of the hair, usually a 50% decrease but sometimes less than 10% of the normal value [1,4]. In our case, the results were typ ical.…”

Section: Case Reportsupporting

confidence: 51%

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A New Case of Isolated Trichothiodystrophy

Alfandari¹,

Delaporte²,

Neste³

et al. 1993

Dermatology

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We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles. To our knowledge there are only two reported cases of isolated trichothiodystrophy without associated additional ectodermal or neuroectodermal dysplasias. Polarized microscopy of cut hair showed transverse fracture points (trichoschisis) and alternating dark and bright bands. Low sulfur content of the hairs was confirmed by amino acid analysis. Many acronyms and eponyms have been created to describe sulfur-deficient brittle hair associated with neuroectodermal abnormalities, leading to confusion. We suggest to use a simple classification scheme, according to increasing severity of associated features as proposed by Van Neste.

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Section: Case Reportsupporting

confidence: 51%

“…The patient was then lost for follow-up. first described by Pollit et al [4]. The diagnosis is suspected clinically by short, sparce, brittle hair, with or without dam age of the eyelashes and the eyebrows.…”

Section: Case Reportmentioning

confidence: 99%

A New Case of Isolated Trichothiodystrophy

Alfandari¹,

Delaporte²,

Neste³

et al. 1993

Dermatology

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“…Clinically, the patients reveal brittle and sparse hair and in most cases mental and physical retardation. Additionally, several other variably expressed findings such as ocu lar dysplasia, nail dystrophy, ichthyosis, pho tosensitivity, dental caries and decreased fer tility have been reported [1][2][3][4], The morpho logical abnormalities of hair shaft in tricho thiodystrophy include weathering, flattening, trichoschisis, trichorrhexis, banding (on po larizing microscopy), absence of cuticle scales, longitudinal grooves, reduced cortical uptake of silver-based stains and impaired arrange ment of the cortical microfibrils [5,6], Bio chemically, the trichothiodystrophic hair re veals a low sulfur and cystine content and a reduced synthesis of high-sulfur matrix pro teins which show an abnormal amino acid composition [7,8]. These biochemical abnor malities are mainly confined to the cortical fibrillar proteins being responsible for the morphological alterations of trichothiodys trophic hair; however, they may also affect the mechanical behavior of the latter, about which very little is known.…”

Section: Introductionmentioning

confidence: 99%

Trichothiodystrophic Hair Reveals an Abnormal Pattern of Viscoelastic Parameters

Tsambaos

Nikiforidis

Balas

et al. 1994

Skin Pharmacol Physiol

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Separate analysis and quantitative determination of the viscous and elastic parameters of hair performed in 5 patients with trichothiodystrophy and in 20 sex- and age-matched control subjects revealed an abnormal pattern of the mechanical behavior of trichothiodystrophic hair. The change of the viscous parameter is probably associated with the profound alterations in the high-sulfur proteins of the interfilamentary matrix; the changes in the elastic parameters may be related to the reduced stability of the irregularly arranged microfibrils of trichothiodystrophic hair caused by the marked reduction of the disulfide cross-links.

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“…In this respect the reduced S:N ratio of the patient's hair as compared with the S:N ratio of the hairs of her family members could be of significance, because a reduced amount of S-containing amino acids (high-S and ultra-high-S proteins) is associated with tri chorrhexis nodosa together with abnormal brittleness of hair [9]. Comparison with the S:N ratio of the control group of 14 healthy genetically unrelated individuals, all of Cau casian race, between 20 and 35 years old, revealed no statis tically significant difference, however.…”

Section: Discussionmentioning

confidence: 99%

Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair

Nijeholt

Koerten²,

Wolff³

1994

Dermatology

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Tightly curled ‘frizzy’ hair is a pathognomonic sign of giant axonal degeneration (GAD). The present study compares the morphological structure of the scalp hair of a GAD patient with that of her parents and first-degree relatives with the aid of scanning electron microscopy. The comparison included plaited hair of two age-matched controls, in order to exclude mechanical plaiting artifacts. Trichorrhexis nodosa and fringing of the cut ends were exclusively found in the patient’s hair. Longitudinal grooving was also frequently seen in hair of normal persons. Assay of carbon (C), sulfur (S) and nitrogen (N) contents of the patient’s hair was normal, but the S:N ratio was significantly reduced, as compared with her relatives. However, comparison with a control group of non-related healthy volunteers showed no difference.

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Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Cited by 139 publications

References 28 publications

A New Case of Isolated Trichothiodystrophy

A New Case of Isolated Trichothiodystrophy

Trichothiodystrophic Hair Reveals an Abnormal Pattern of Viscoelastic Parameters

Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair

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