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Skin Research and Technology : Official... Jan 2023To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.
OBJECTIVE
To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.
METHOD
Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL twice daily). Hair quality was examined by dermoscopy before and after treatment.
RESULTS
The proband and her father have the heterozygous missense variant c.1204G > A (p.E402K) in exon 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment.
CONCLUSION
This study shows that p.E402K is a mutation "hot spot" in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.
Topics: Humans; Female; Monilethrix; Minoxidil; Mutation; Hair; Mothers; Alopecia; Administration, Topical
PubMed: 36382623
DOI: 10.1111/srt.13233 -
Journal of Cytology 2022
PubMed: 36605870
DOI: 10.4103/joc.joc_25_22 -
Archives of Biochemistry and Biophysics Apr 2011Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing... (Review)
Review
Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing structural support to keratinocytes that maintain the integrity of the skin. Expression of keratin genes is usually regulated by differentiation of the epidermal cells within the stratifying squamous epithelium. Amongst the 54 known functional keratin genes in humans, about 22 different genes including, the cornea, hair and hair follicle-specific keratins have been implicated in a wide range of hereditary diseases. The exact phenotype of each disease usually reflects the spatial expression level and the types of mutated keratin genes, the location of the mutations and their consequences at sub-cellular levels as well as other epigenetic and/or environmental factors. The identification of specific pathogenic mutations in keratin disorders formed the basis of our understanding that led to re-classification, improved diagnosis with prognostic implications, prenatal testing and genetic counseling in severe keratin genodermatoses. Molecular defects in cutaneous keratin genes encoding for keratin intermediate filaments (KIFs) causes keratinocytes and tissue-specific fragility, accounting for a large number of genetic disorders in human skin and its appendages. These diseases are characterized by keratinocytes fragility (cytolysis), intra-epidermal blistering, hyperkeratosis, and keratin filament aggregation in severely affected tissues. Examples include epidermolysis bullosa simplex (EBS; K5, K14), keratinopathic ichthyosis (KPI; K1, K2, K10) i.e. epidermolytic ichthyosis (EI; K1, K10) and ichthyosis bullosa of Siemens (IBS; K2), pachyonychia congenita (PC; K6a, K6b, K16, K17), epidermolytic palmo-plantar keratoderma (EPPK; K9, (K1)), monilethrix (K81, K83, K86), ectodermal dysplasia (ED; K85) and steatocystoma multiplex. These keratins also have been identified to have roles in apoptosis, cell proliferation, wound healing, tissue polarity and remodeling. This review summarizes and discusses the clinical, ultrastructural, molecular genetics and biochemical characteristics of a broad spectrum of keratin-related genodermatoses, with special clinical emphasis on EBS, EI and PC. We also highlight current and emerging model tools for prognostic future therapies. Hopefully, disease modeling and in-depth understanding of the molecular pathogenesis of the diseases may lead to the development of novel therapies for several hereditary cutaneous diseases.
Topics: Animals; Disease Models, Animal; Humans; Keratins; Mutation; Skin; Skin Diseases
PubMed: 21176769
DOI: 10.1016/j.abb.2010.12.019 -
Dermatology Online Journal Jul 2017Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no...
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance. The diagnosis of monilethrix was made on the basis of these specific features. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases.
Topics: Alopecia; Child, Preschool; Dermoscopy; Hair; Humans; Male; Monilethrix
PubMed: 29469711
DOI: No ID Found -
International Journal of Trichology Jan 2013Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis....
Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis. Light microscopy of hair reveals a beaded appearance. Here, we report the case of a 32-year-old male who presented with sparse hair and follicular keratotic papules in the absence of any family history.
PubMed: 23960403
DOI: 10.4103/0974-7753.114703 -
International Journal of Trichology Jan 2010Monilethrix is a heritable hair shaft defect characterized by localized or diffuse alopecia resulting from hair fragility over friction areas, predominantly the temporal...
Monilethrix is a heritable hair shaft defect characterized by localized or diffuse alopecia resulting from hair fragility over friction areas, predominantly the temporal and occipital regions, and follicular keratosis over the occipital region. However, it lacks macroscopic features that enable easy and rapid diagnosis in medical practice. Hair shaft microscopy is the basis for diagnosing monilethrix. We present a report of two Indian male siblings aged 24 and 21, who presented with thinning and hair loss from the scalp in male pattern distribution and multiple skin-colored follicular papules over the nape of the neck and bilateral forearms since childhood. Trichoscopy of scalp hair revealed characteristic uniform elliptical nodes and intermittent constrictions along with variation in hair shaft diameter, presence of few vellus hair and yellow dots, suggesting a diagnosis of monilethrix with early-onset androgenetic alopecia. Dermoscopy of the papules revealed multiple stubs of broken hair arising from them with a similar beaded appearance, suggesting a diagnosis of monilethrix. The diagnosis of monilethrix was confirmed with light microscopy and hair clipping. This report highlights the patterned distribution of hair loss in monilethrix probably due to the early unmasking of androgenetic alopecia and the use of trichoscopy as the diagnostic modality.
PubMed: 21188029
DOI: 10.4103/0974-7753.66918 -
International Journal of Trichology 2018Hair loss is a common and distressing clinical complaint in the dermatology clinics. Common causes of hair loss in children include alopecia areata, tinea capitis,...
INTRODUCTION
Hair loss is a common and distressing clinical complaint in the dermatology clinics. Common causes of hair loss in children include alopecia areata, tinea capitis, traction alopecia, and trichotillomania. Newly, trichoscopy allows differential diagnosis of hair loss in most cases and allows visualization of hair shafts and scalps without the need of removing hair.
OBJECTIVE
The main objective is to compare the different trichoscopic features of common causes of patchy hair in children loss including tinea capitis, alopecia areata, traction alopecia, and trichotillomania.
PATIENTS AND METHODS
This study included 134 patients, 63 patients with tinea capitis, 38 patients with alopecia areata, 18 patients with traction alopecia, and 15 patients with trichotillomania. The diagnostic tools for the diagnosis of hair loss problem included a detailed history, evaluation of the child's hair and scalp, fungal scrapping, and trichoscopy.
RESULTS
Tinea capitis was the most common, and the trichoscopic features were comma-shaped hairs, corkscrew hairs, short broken hairs, and interrupted hairs. While in alopecia areata patients, the most specific features were yellow dots and black dots, microexclamation mark, hair shafts with variable thickness, and vellus hairs, with uncommon features included: monilethrix, coiled, zigzag, and tulip hairs. Trichoscopy of trichotillomania showed hair with fraying of ends, breakage at different lengths, short and coiled hairs, and amorphous hair residues. The trichoscopic features of traction alopecia were similar to those of trichotillomania. However, flame hairs and coiled hairs were less common.
CONCLUSIONS
Trichoscopy is a noninvasive method of examining hair and scalp. It allows differential diagnosis of hair loss in most cases.
PubMed: 30386074
DOI: 10.4103/ijt.ijt_101_17 -
International Journal of Trichology 2020
PubMed: 33531747
DOI: 10.4103/ijt.ijt_104_19 -
Indian Dermatology Online Journal 2018
PubMed: 30050820
DOI: 10.4103/idoj.IDOJ_234_17 -
The Journal of Investigative Dermatology Oct 1999Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1...
Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and clinical features in 18 unrelated pedigrees of monilethrix from Germany, Scotland, Northern Ireland, and Portugal, in 13 of which mutations have not previously been identified. By examining the rod domains of hHb1, hHb3 and hHb6, we have identified mutations in nine of the new pedigrees. We again found the glutamine-lysine substitution (E413K) in the helix termination motif of hHb6 in two families, and in another, the corresponding E413K substitution in the hHb1 gene. In four families a similar substitution E402K was present in a nearby residue. In addition two novel mutations within the helix initiation motif of hHb6 were found in Scottish and Portuguese cases, in whom the same highly conserved asparagine residue N114 was mutated to histidine (N114H) or aspartic acid (N114D) residues, respectively. In four other monilethrix pedigrees mutations in these domains of hHb1, hHb3, and hHb6 were not found. The mutations identified predict a variety of possible structural consequences for the keratin molecule. A comparison of clinical features and severity between cases with hHb1 and hHb6 mutations does not suggest distinct effects on phenotype, with the possible exception of nail dystrophy, commoner with hHb1 defects. Other factors are required to explain the marked variation in clinical severity within and between cases.
Topics: Amino Acid Sequence; Codon; Female; Genotype; Hair Diseases; Humans; Keratins; Male; Molecular Sequence Data; Mutation; Phenotype; Polymorphism, Restriction Fragment Length; Protein Structure, Secondary
PubMed: 10504448
DOI: 10.1046/j.1523-1747.1999.00722.x