Results 121 to 130 of about 596 (152)
De novo mutations in monilethrix
Experimental Dermatology, 2003 4 páginas, 1 figura.Mutations in the hair keratins hHb1 and hHb6 have been recently reported to cause monilethrix, an autosomal dominant hair shaft disorder, characterized by variable degrees of hair fragility and follicular hyperkeratosis.
Rodney Sinclair
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Novel KRT 83 and KRT 86 mutations associated with monilethrix
Experimental Dermatology, 2015 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
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Dermatologica, 2009
A case of monilethrix with an extensive pedigree is being reported. There was associated keratosis pilaris and involvement of eyebrows in addition to the scalp. Argininosuccinic acid was absent in the urine.
A K, Bajaj +5 more
+5 more sources
A case of monilethrix with an extensive pedigree is being reported. There was associated keratosis pilaris and involvement of eyebrows in addition to the scalp. Argininosuccinic acid was absent in the urine.
A K, Bajaj +5 more
+5 more sources
Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review
Pediatric DermatologyABSTRACT Monilethrix is a rare congenital hair disorder characterized by fragile, beaded hair shafts due to mutations in various keratin or desmoglein 4 genes. A systematic review of 24 studies (16 pediatric only, 3 mixed adult and pediatric, 3 adult only, and 2 unspecified) evaluating various treatment modalities identified topical and oral minoxidil ...
Adam Yu, Fatmah Alzahrani
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A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients [PDF]
Journal of Investigative Dermatology, 1998 Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus ...
Eugene Healy +2 more
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American Journal of Clinical Dermatology, 2005
Monilethrix is a rare hereditary disorder that affects the hair and is characterized by shaft anomaly. There is no known treatment that successfully cures the condition. In this report we present a case of monilethrix in a 7-year-old girl treated with oral acitretin.
Yelda, Karincaoglu +3 more
openaire +2 more sources
Monilethrix is a rare hereditary disorder that affects the hair and is characterized by shaft anomaly. There is no known treatment that successfully cures the condition. In this report we present a case of monilethrix in a 7-year-old girl treated with oral acitretin.
Yelda, Karincaoglu +3 more
openaire +2 more sources
Monilethrix, Pseudomonilethrix, and Monilethrix-Like Hairs
2012In monilethrix, trichoscopy shows abnormalities in terminal and vellus hairs of the scalp. Hair shafts show uniform elliptical nodosities and intermittent constrictions causing regular variation in hair shaft thickness. Hairs bend and break at constriction sites.
Adriana Rakowska, Lidia Rudnicka
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Monilethrix: an ultrastructural study
Journal of Cutaneous Pathology, 1984Characlcristic moniliform hairs of monilcthrix were ultrastructurally examined. By scanning electron microscope, nodes and internodes were seen alternating on the affected hair; the nodes were normal in apparance and thickness, while the internodes were thin and showed ridges and flutes.
M, Ito, K, Hashimoto, F W, Yorder
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