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    Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
    J Med Genet 2017 Mar 13;54(3):186-189. Epub 2016 Dec 13.
    Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
    Background: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance.

    Objective: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred. Read More

    Journey toward unraveling the molecular basis of hereditary hair disorders.
    J Dermatol Sci 2016 Dec 7;84(3):232-238. Epub 2016 Aug 7.
    Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan. Electronic address:
    Recent advances in molecular genetics have led to the identification of many genes expressed in hair follicle (HF), while the precise roles of these genes in the HF have not completely been disclosed. Using the methods of forward genetics, we and others have recently identified a series of genes responsible for hereditary hair disorders in humans, including monilethrix, woolly hair, and various ectodermal dysplasia syndromes. Furthermore, expression and functional analyzes have gradually revealed that these genes are directly or indirectly related with each other. Read More

    Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II.
    Pediatr Dermatol 2016 Sep 13;33(5):481-7. Epub 2016 Jun 13.
    Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, Florida.
    Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective of this study was to review the literature regarding the prognosis and treatment options for hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in English related to the prognosis and management of hair shaft disorders. Read More

    Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.
    Pediatr Dermatol 2016 Sep 13;33(5):473-80. Epub 2016 Jun 13.
    Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, University of Miami, Miami, Florida.
    Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair shaft. The objective was to review the literature regarding the prognosis and treatment options of hair shaft disorders. We used keywords in the search engines PubMed and Medline to identify all publications in the English language related to the prognosis and management of hair shaft disorders. Read More

    Molecular genetics of alopecias.
    Curr Probl Dermatol 2015 20;47:87-96. Epub 2015 Feb 20.
    Recent developments in research methods and techniques, such as whole-exome and -genome sequencing, have substantially improved our understanding of genetic conditions. Special progress has been made in the field of genotrichoses, or hereditary hair diseases, a field that has been obscure for many years. The underlying genes for many of the monogenic hair diseases are now known. Read More

    Hair loss in children.
    Curr Probl Dermatol 2015 20;47:55-66. Epub 2015 Feb 20.
    Hair diseases represent frequent complaints in dermatology clinics, and they can be caused by a number of conditions reflected by specific diagnoses. Hair loss is not uncommon in the pediatric group, but its patterns in this group are different from those seen in adults. Additionally, in children, these disorders can have psychological effects that can interfere with growth and development. Read More

    Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.
    Int J Dermatol 2015 Oct 14;54(10):1163-8. Epub 2015 Jul 14.
    Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
    Background: Localized autosomal recessive hypotrichosis (LAH) is an inherited rare disease caused by DSG4 mutations, characterized by short, sparse, brittle hair affecting restricted areas such as the scalp, trunk, and extremities. To date, DSG4 mutations have been reported in 14 pedigrees of LAH overlapping with monilethrix.

    Methods: To clarify the etiology of hair defects for a 2-year-old Chinese girl, peripheral blood, skin, and hair samples were collected, and skin immunohistochemistry, electron microscopy (scanning and transmission types), Vivascope confocal microscopy, and DSG4 sequencing were investigated. Read More

    Monilethrix with holt-oram syndrome: case report of a rare association.
    Int J Trichology 2015 Jan-Mar;7(1):33-5
    Department of Dermatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India.
    Congenital hypotrichosis may be due to a number of causes and may have multiple systemic associations. A child born of second-degree consanguineous marriage was found to have monilethrix as the cause of congenital hypotrichosis. A detailed systemic evaluation in the child revealed atrial septal defect and a hypoplastic right thumb leading to a diagnosis of coexisting Holt-Oram syndrome. Read More

    A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
    Clin Exp Dermatol 2015 Oct 21;40(7):781-5. Epub 2015 Mar 21.
    Institute of Human Genetics, University of Bonn, Bonn, Germany.
    Background: Monilethrix is a rare monogenic dystrophic hair loss disorder with high levels of intrafamilial and interfamilial variability. It is characterized by diffuse occipital or temporal alopecia, hair fragility and follicular hyperkeratosis of the occipital region. Mutations in the keratin genes KRT81, KRT83 and KRT86 lead to autosomal dominant monilethrix, whereas mutations in the desmoglein 4 gene (DSG4) cause an autosomal recessive form. Read More

    Monilethrix: a typical case report with microscopic and dermatoscopic findings.
    An Bras Dermatol 2015 Jan-Feb;90(1):126-7
    Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, RJ, Brazil.
    Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported. The diagnosis was made by optic microscopy and dermoscopy. Read More

    An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.
    J Invest Dermatol 2015 May 23;135(5):1253-60. Epub 2015 Jan 23.
    Department of Dermatology, Gunma University Graduate School of Medicine, Gunma, Japan.
    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. Read More

    Novel KRT83 and KRT86 mutations associated with monilethrix.
    Exp Dermatol 2015 Mar;24(3):222-4
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.
    Monilethrix is an autosomal dominant hair disorder caused by mutations in the hard keratins KRT81, KRT83 and KRT86. The affected hairs are fragile and break easily, leading to scarring alopecia. Follicular hyperkeratosis in the neck and on extensor sides of extremities is a frequently associated finding. Read More

    A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
    Clin Exp Dermatol 2015 Jan 23;40(1):78-84. Epub 2014 Sep 23.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Background: Autosomal recessive hypotrichosis is a rare human hereditary disorder presenting as sparse scalp hair or as woolly hair occurring on various parts of the body. Various forms of isolated hypotrichosis have been reported to date. Mutations in at least 11 genes have been reported to cause hypotrichosis. Read More

    [Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
    Hautarzt 2014 Jun;65(6):520-6
    Institut für Humangenetik, Biomedizinisches Zentrum (BMZ), Universität Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Deutschland,
    The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous disorders with decreased or absent hair. Clinical classification of the isolated alopecias is based upon the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Read More

    Alopecia in genetic diseases.
    G Ital Dermatol Venereol 2014 Feb;149(1):1-13
    Department of Internal Medicine and Medical Specialties, Unit of Dermatology Sapienza University, Rome, Italy -
    Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. These alterations may be associated with a larger array of symptoms, as mentioned above, or may occur isolated. The number of genes involved and their penetration are responsible for the mode of transmission, severity, and phenotypic expression of the disease. Read More

    Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
    Chin Med J (Engl) 2013 Aug;126(16):3103-6
    Department of Dermatology, Peking University Third Hospital, Beijing, China.
    Background: Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.

    Methods: In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Read More

    Pitfalls and pearls in the diagnosis of monilethrix.
    Pediatr Dermatol 2013 Sep-Oct;30(5):633-5. Epub 2013 Jul 9.
    Department of Dermatology, University Hospitals Bristol NHS Foundation Trust, Bristol, UK; Department of Dermatology, Dudley Group of Hospitals NHS Foundation Trust, Dudley, UK.
    A 4-year-old girl presented with sparse, brittle hair on her entire scalp and keratosis pilaris on the nape of her neck. Subtle microscopic and macroscopic diagnostic features presented a challenge for physicians. Only repeated, optimized light microscopy revealed the diagnosis of monilethrix, a rare genetic hair shaft disorder with a variable phenotypic expression and inheritance pattern. Read More

    Monilethrix: a rare hereditary condition.
    Indian J Dermatol 2013 May;58(3):243
    Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry, India.
    Monilethrix is a rare hereditary condition generally considered to be an autosomal-dominant disorder with variable penetrance. Here, we report a case of monilethrix in a 13-year-old boy with an affected sibling. A therapeutic trial with oral N-acetyl cysteine was attempted. Read More

    Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.
    Am J Med Genet A 2013 May;161A(5):1058-63
    Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, DE 19803, USA.
    Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. Read More

    Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders.
    Pediatr Dermatol 2013 Mar-Apr;30(2):163-71. Epub 2013 Feb 14.
    Memorial Sloan Kettering Cancer Center, Hauppauge, New York 11788, USA.
    The dermoscope allows physicians to examine the macroscopic and microscopic primary morphology of skin lesions, identify subtle clinical clues, confirm naked-eye clinical diagnoses, and monitor treatment progress while posing little threat to the young patient. This review summarizes important dermoscopic structures seen in infectious and inflammatory skin conditions and hair disorders in children. Scabies, pediculosis, phthiriasis, molluscum contagiosum, tinea nigra, and verrucae are well characterized dermoscopically by delta-shaped structures, ovoid-shaped nits, the crab louse, red corona, brown strands or spicules, and multiple densely packed papilla with a central black dot surrounded by a whitish halo, respectively. Read More

    The proteomic profile of hair damage.
    Br J Dermatol 2012 Jun;166 Suppl 2:27-32
    University of Melbourne and Epworth Hospital, Melbourne, Vic., Australia.
    Background: Monilethrix is a congenital hair shaft disorder with associated fragility. Many of the changes seen in monilethrix hair on light microscopy and scanning electron microscopy are also seen in hair weathering and cosmetic damage to hair.

    Objectives: We used monilethrix as a model to investigate the relationship between hair protein structure and hair strength and resistance to cosmetic insult. Read More

    A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
    Br J Dermatol 2012 Jun;166 Suppl 2:20-6
    Department of Dermatology, St Vincent's Hospital Melbourne, PO Box 2900, Fitzroy, Vic. 3065, Australia.
    Background: Monilethrix is a genetic hair shaft disorder that causes a dystrophic alopecia. Mutations causing autosomal dominant monilethrix have been found in the helix initiation and helix termination motifs of the type II hair keratins KRT81, KRT83 and KRT86. Mutations in DSG4 are linked to recessive transmission. Read More

    Trichoscopy update 2011.
    J Dermatol Case Rep 2011 Dec;5(4):82-8
    Department of Dermatology, CSK MSWiA, Warsaw, Poland.
    Trichoscopy performed with a handheld dermoscope or a videodermoscope became an indispensable tool in differential diagnosis of hair and scalp diseases. Current research is focusing on trichoscopy of: 1) non-cicatricial alopecia, 2) cicatricial alopecia, 3) hair shaft disorders, and 4) inflammatory scalp diseases. This review summarizes current knowledge in these four fields of research. Read More

    Congenital hair loss disorders: rare, but not too rare.
    J Dermatol 2012 Jan 2;39(1):3-10. Epub 2011 Nov 2.
    Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
    The mammalian hair follicle (HF) is an active skin appendage which operates hair cycles throughout life. Recent advances in molecular genetics have led to the identification of many genes expressed in the HF. Furthermore, mutations in some of these genes have been shown to underlie congenital hair loss disorders in humans. Read More

    Keratin disorders: from gene to therapy.
    Hum Mol Genet 2011 Oct 2;20(R2):R189-97. Epub 2011 Sep 2.
    Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, UK.
    The term 'keratin' is generally accepted to refer to the epithelial keratins of soft and hard epithelial tissues such as: skin, cornea, hair and nail. Since their initial characterization, the total number of mammalian keratins has increased to 54, including 28 type I and 26 type II keratins. Inherited defects that weaken the keratin load-bearing cytoskeleton produce phenotypes characterized by fragility of specific subsets of epithelial tissues. Read More

    Epithelial stem cells.
    Methods Mol Biol 2011 ;750:261-74
    Department of Cancer Biology, UMass Medical School, Worcester, MA, USA.
    It is likely that adult epithelial stem cells will be useful in the treatment of diseases, such as ectodermal dysplasias, monilethrix, Netherton syndrome, Menkes disease, hereditary epidermolysis bullosa, and alopecias. Additionally, other skin problems such as burn wounds, chronic wounds, and ulcers will benefit from stem cell-related therapies. However, there are many questions that need to be answered before this goal can be realized. Read More

    Monilethrix treated with minoxidil.
    Int J Immunopathol Pharmacol 2011 Jan-Mar;24(1):239-42
    In literature many different therapies are proposed to treat Monilethrix, but a definitive therapy still doe not exist. We decided to treat four patients affected by Monilethrix, with topical minoxidil 2%, 1 ml night and day for 1 year. Minoxidil led to a an increase of normal hair shaft without any side effects in all the patients. Read More

    A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.
    Br J Dermatol 2011 Aug 19;165(2):425-31. Epub 2011 Jul 19.
    Laboratory of Genetic Skin, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan.
    Monilethrix is a rare condition characterized by a hair shaft anomaly known as beaded hair. It can show either an autosomal dominant or an autosomal recessive inheritance pattern. The autosomal dominant form of monilethrix is caused by mutations in the basic hair keratin genes KRT81, KRT83 or KRT86, while the autosomal recessive form results from mutations in the desmoglein 4 (DSG4) gene. Read More

    Isolation and culture of adult epithelial stem cells from human skin.
    J Vis Exp 2011 Mar 31(49). Epub 2011 Mar 31.
    Department of Cancer Biology, University of Massachusetts Medical School, MA, USA.
    The homeostasis of all self-renewing tissues is dependent on adult stem cells. As undifferentiated stem cells undergo asymmetric divisions, they generate daughter cells that retain the stem cell phenotype and transit-amplifying cells (TA cells) that migrate from the stem cell niche, undergo rapid proliferation and terminally differentiate to repopulate the tissue. Epithelial stem cells have been identified in the epidermis, hair follicle, and intestine as cells with a high in vitro proliferative potential and as slow-cycling label-retaining cells in vivo (1-3). Read More

    A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.
    J Biomed Res 2011 Jan;25(1):49-55
    Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
    Monilethrix, a congenital disease of hair, is usually associated with mutations in keratin genes, like KRT81, KRT83 and KRT86. We conducted this study to investigate the mutation of type II human basic hair keratin hHb/KRT gene in a Han family with monilethrix and obtain information for potential pathogenic mechanism study of monilethrix. Peripheral blood samples were drawn for genomic DNA detection. Read More

    Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy.
    Int J Trichology 2010 Jan;2(1):56-9
    Department of Dermatology, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India.
    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. Read More

    Monilethrix: one step more on the ladder of cytogenetics.
    Int J Trichology 2010 Jan;2(1):18-9
    Department of Dermatology, Venereology, Leprology, Mahatma Gandhi Medical College and Research Institute, Pondicherry, India.
    Monilethrix is one of the hair shaft abnormalities with increased fragility of hair. Here we describe a ten-year-old girl with a history of hair loss and breakage of hair since three months of age, associated with keratosis pilaris along with an abnormal microscopic finding of a hair shaft. A cytogenetic study of the patient showed an unexpectedly high degree of Acrocentric association. Read More

    Keratin gene mutations in disorders of human skin and its appendages.
    Arch Biochem Biophys 2011 Apr 19;508(2):123-37. Epub 2010 Dec 19.
    Department of Dermatology, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53706, USA.
    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. Read More

    Acquired nonscarring diffuse hair loss in a 3-year-old girl.
    Eur J Pediatr 2011 Jan 29;170(1):127-8. Epub 2010 Jul 29.
    Department o f Dermatology and Allergology, Allergieklinik, Hochgebirgsklinik, Herman-Burchard-Street 1, 7265 Davos, Switzerland.
    A 3-year-old girl showed fine, sparse, and brittle scalp hair without signs of cicatricial cutaneous alterations. Dermoscopy as well as scanning electron microscopy revealed elliptical nodes as well as constricted regions along the hair shaft. Read More

    Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
    Differentiation 2009 Dec 15;78(5):292-300. Epub 2009 Aug 15.
    Departments of Genetics & Development, Columbia University, New York, NY 10032, USA.
    The hair fiber is made of specialized keratinocytes, known as trichocytes, that primarily express hair keratins, which are cemented by a multitude of keratin-associated proteins (KAPs). The hair keratins form the intermediate filament cytoskeleton of the trichocytes, which are linked to abundant cell-cell adhesion junctions, called desmosomes. Desmoglein 4 (DSG4) is the major desmosomal cadherin expressed in the hair shaft cortex where the hair keratins are highly expressed. Read More

    Hair diagnoses and signs: the use of dermatoscopy.
    Clin Exp Dermatol 2010 Jan 22;35(1):41-6. Epub 2009 Jun 22.
    Academic Unit of Primary Health Care, University of Bristol, Bristol, UK.
    Background: Hair-shaft examination is diagnostically useful in a range of adult and paediatric conditions.

    Objective: To evaluate the usefulness of dermatoscopy in hair-shaft microscopy.

    Methods: Typical examples of selected conditions from an extensive collection of scalp hair were examined using a dermatoscope and a light microscope with paired cross-polarizing filters. Read More

    Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
    Genet Couns 2009 ;20(1):1-8
    Karadeniz Technical University, Faculty of Medicine, Department Medical Biology, Trabzon, Turkey.
    Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Read More

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