Monilethrix: an ultrastructural study

Ito, Masaaki; Hashimoto, Ken; Yorder, F. W.

doi:10.1111/j.1600-0560.1984.tb00412.x

Cited by 32 publications

(20 citation statements)

References 16 publications

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“…In this study, we identified a homozygous mutation, c.2119delG (p.Asp707Ilefs*109), in the DSG4 gene from a Japanese patient. Although a few TEM analyses for moniliform hairs have been reported, the responsible genes are unknown (Gummer et al, 1981;Ito et al, 1984;Ito et al, 1990). Despite the limited sample numbers in our study, the acantholysis of the cortex, which was seen in the lanceolate hair mouse (Kljuic et al, 2003), was not observed.…”

Section: Discussioncontrasting

confidence: 73%

An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response

Kato

Shimizu

Yokoyama

et al. 2015

Journal of Investigative Dermatology

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Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie the autosomal recessive form of the disease. However, the pathogenesis and cellular basis for the DSG4 mutation-induced monilethrix remained largely unknown. We report a Japanese female patient with monilethrix. Observation of her hair shaft by means of transmission electron microscopy showed fewer desmosomes and abnormal keratinization. Genetic analysis revealed a homozygous mutation, c.2119delG (p.Asp707Ilefs*109), in the DSG4 gene, which was predicted to cause a frameshift and premature termination in the intracellular region of the DSG4 protein. The mutation has not been reported previously. In the patient's hair shaft, we detected reduced but partial expression of the mutant DSG4 protein. Cellular analyses demonstrated that the mutant DSG4 lost its affinity to plakoglobin and accumulated in the endoplasmic reticulum (ER). The amounts of mutant DSG4 were increased by proteasome inhibitor treatment, and the expression of an ER chaperone, GRP78/BiP, was elevated in the patient's skin. Collectively, these results suggest that the dysfunctional mutated DSG4, tethered in the ER, undergoes ER-associated degradation, leading to unfolded protein response induction, and thus ER stress may have a role in the pathogenesis of monilethrix.

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Section: Discussioncontrasting

confidence: 73%

An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response

Kato

Shimizu

Yokoyama

et al. 2015

Journal of Investigative Dermatology

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“…510 Other hairy areas may also be involved. 591,594,595 Abnormalities also exist in the inner root sheath adjacent to the zones of abnormal shaft thinning. 528 The defect leading to monilethrix may result from a periodic dysfunction of the hair matrix.…”

Section: Monilethrixmentioning

confidence: 99%

Diseases of cutaneous appendages

Weedon

2010

Weedon's Skin Pathology

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“…For example, environmental factors including sunlight, air pollution and wind, have been found to induce histological changes in the hair cuticle and cortex, ultimately leading to the destruction of the hair shaft [7][8][9][10]. In addition, histological changes in hair structures are caused by various pathological states [11][12][13]. For example, in individuals with alopecia areata, keratinocytes in the hair are damaged by an autoimmune mechanism, and these defects in cortical cells within the hair shaft correlate with the pathophysiology of the disease [9,14].…”

Section: Introductionmentioning

confidence: 99%