Human Hair: A Genetic Marker*

Porter, Paul S.; Lobitz, Walter C.

doi:10.1111/j.1365-2133.1970.tb15693.x

Cited by 43 publications

(10 citation statements)

References 46 publications

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“…For Porter and Lobitz [4], the microscopic examination under polar ized light shows an altered cuticle and the presence of nonperiodic transverse opaque bands: it is the 'irregularly banded hair'. In the case that we are reporting the hair was dark, fine, frizzy, and not scarce.…”

Section: Discussionmentioning

confidence: 99%

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Skin, Hair and Nail Changes in a Case of Citrullinemia with Late Manifestation

Bonafé¹,

Pieraggi²,

Abravanel³

et al. 1984

Dermatology

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We report the case of a 56-year-old woman with a history of episodes of vomiting and coma. Hyperammoniemia, hypouremia, hypercitrullinemia and the decreased arginino-succinic synthetase activity on skin fibroblast cultures permitted us to diagnose citrullinemia. We think that the skin changes, i.e. atrophy of the epidermis, thin and short collagen bundles, dystrophic elastic fibers, increased fundamental matrix, were due to the undernutrition state and were not specific. The dosage of the amino acids of the total skin showed a decreased hydroxylation of lysine in the insoluble fraction, and the presence of pro-line and hypdroxyproline in the soluble fraction. These metabolic changes were not specific and evidenced the disorganization and the lysis of the connective tissue due to the undernutritional state. The nail changes, i.e. clubbed fingers and ‘half-and-half nail’ syndrome, were not specific either. The hair changes mentioned by other authors in newborns and young children, i.e. sparse and brittle blond hair, presence of transverse opaque bands (‘irregularly banded hair’), were not present in our case. We only found changes in the cuticle and some trichorrhexis which were not specific of the disease either.

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Section: Discussionmentioning

confidence: 99%

“…Most of the reported cases were found in infants, newborns and young children. They presented with macroscopic and microscop ic hair anomalies [4], but no particular skin changes were described.…”

mentioning

confidence: 99%

Skin, Hair and Nail Changes in a Case of Citrullinemia with Late Manifestation

Bonafé¹,

Pieraggi²,

Abravanel³

et al. 1984

Dermatology

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“…Extrapolation of such hypothetical relationship to the realm of mechano-chemical behavior of hair is still very tenuous. The other incentive is the growing effort to use the solubilization and fractionation characteristics of hair as a useful marker of disease and of genetic variation in man (Porter and Lobitz 1970, Hrdy and Baden 1973, Lee et al 1978. The latter approach, mainly analytical in scope, might prove very fruitful in dermatological research and appears of some promise in the field offorensic science.…”

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confidence: 97%

The Reactivity of Human Hair. A Review

Wolfram¹

1981

Hair Research

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“…Different authors suggested the possibili ty that immunologic [2,3] and genetic fac tors [4,5] play an important role in the pathogenesis of this disease. Many authors studied the association between AA and hu man leukocyte antigens (HLA) [6][7][8][9] of class [10] proposed an association with DR4and DR5 antigens; Dahl [11] asked for 'a completely new cohort of patients' to be evaluated in order to confirm these data.…”

Section: Introductionmentioning

confidence: 99%

Human Leukocyte Antigen Region Involvement in the Genetic Predisposition to Alopecia areata

Orecchia¹,

Martinetti³

et al. 1987

Dermatology

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Human leukocyte antigens (HLA) of classes I and II were studied in 127 patients with alopecia areata (AA). The patients were subdivided into different groups depending on (1) hair loss area, (2) sex, (3) pathogenesis, (4) response to topical immune modulators (squaric acid dibutylester and diphencyprone) and (5) age of onset of the disease. The frequencies of class I HLA markers (loci A, B, C) were not significantly different from the controls. However, among the class II antigens (loci DR, DQ), the frequency of DR5 was increased in both alopecia areata and alopecia universalis when compared with the control group. In particular, DR5 was strongly linked to the early-onset form. The highest DR5 frequency (62%) was found in the group of patients which presented both the early onset and the most severe form of the disease (p < 0.01; RR = 3.14). A decrease of the HLA-B8 phenotype frequency was found in the alopecia areata group versus the alopecia universalis one. No significant deviation was found between the female patients and the control group. However, an increase of CW3 and a decrease of DRl was seen in the males. In the group including ‘combined’, ‘prehypertensive’, ‘atopic’ alopecia of Ikeda’s classification the frequency of HLA-A28 and DR5 was increased and that of DRl was decreased in comparison with the ‘common’ type of alopecia and the controls. It was not possible to find any relationship between these genetic markers and the response to topical immune modulators.

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Human Hair: A Genetic Marker*

Cited by 43 publications

References 46 publications

Skin, Hair and Nail Changes in a Case of Citrullinemia with Late Manifestation

Skin, Hair and Nail Changes in a Case of Citrullinemia with Late Manifestation

The Reactivity of Human Hair. A Review

Human Leukocyte Antigen Region Involvement in the Genetic Predisposition to Alopecia areata

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