Monilethrix

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Monilethrix
Classification and external resources
ICD-10	Q 84.1 (ILDS Q84.140)
ICD-9	757.4
OMIM	158000
DiseasesDB	29592
eMedicine	derm/763

Monilethrix (also referred to as "Beaded hair")^[1] is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.^[2]^[3] It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).^[4]

Contents

1 Characteristics
2 Cause and Genetics
3 Diagnosis
4 See also
5 References

Characteristics

The presentation may be of alopecia. Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis.

Cause and Genetics

Monilethrix has an autosomal dominant pattern of inheritance.

Monilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins.^[5] The disorder is inherited in an autosomal dominant manner.^[2] This means that the defective gene(s) responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Diagnosis

Monilethrix may be diagnosed with trichoscopy^[6]^[7]

References

^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ ^a ^b Celep, F.; Uzumcu, A.; Sonmez, F.; Uyguner, O.; Balci, Y.; Bahadir, S.; Karaguzel, A. (2009). "Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance". Genetic counseling (Geneva, Switzerland) 20 (1): 1–8. PMID 19400537. edit
^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 639. ISBN 0-07-138076-0.
^ Genetic and Rare Diseases Information Center (2008-09-09). "Monilethrix". NIH Office of Rare Diseases Research. http://rarediseases.info.nih.gov/GARD/Condition/93/QnA/21422/Monilethrix.aspx#491. Retrieved 2011-01-15.
^ Schweizer J (2006). "More than one gene involved in monilethrix: intracellular but also extracellular players". J. Invest. Dermatol. 126 (6): 1216–9. doi:10.1038/sj.jid.5700266. PMID 16702971.
^ Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M. (2008). "Trichoscopy: a new method for diagnosing hair loss". J Drugs Dermatol 7 (7): 651–654. PMID 18664157.
^ Rakowska A, Slowinska M, Kowalska-Oledzka E,Rudnicka L. (2008). "Trichoscopy in genetic hair shaft abnormalities". J Dermatol Case Rep 2 (2): 14–20. doi:10.3315/jdcr.2008.1009. PMC 3157768. PMID 21886705. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3157768.

Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)

Nail disease

Anonychia · Leukonychia · Pachyonychia congenita/Onychauxis · Koilonychia

Hair disease

hypotrichosis/abnormalities: keratin disease (Monilethrix) · IBIDS syndrome · Sabinas brittle hair syndrome · Pili annulati · Pili torti · Uncombable hair syndrome · Björnstad syndrome · Giant axonal neuropathy with curly hair

hypertrichosis: Zimmermann–Laband syndrome

M: SKA

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug(D10)

Cytoskeletal defects

Microfilaments

Myofilament

Actin	Hypertrophic cardiomyopathy 11 · Dilated cardiomyopathy 1AA · DFNA20 · Nemaline myopathy 3

Myosin	Elejalde syndrome · Hypertrophic cardiomyopathy 1, 8, 10 · Usher syndrome 1B · Freeman–Sheldon syndrome · DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 · May-Hegglin anomaly

Troponin	Hypertrophic cardiomyopathy 7, 2 · Nemaline myopathy 4, 5

Tropomyosin	Hypertrophic cardiomyopathy 3 · Nemaline myopathy 1

Titin	Hypertrophic cardiomyopathy 9

Other

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures

3	Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis

4	Neurofilament: Parkinson's disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis

5	Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10

Dynein	Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3

Other	Tauopathy · Cavernous venous malformation

Membrane

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin

APC (Gardner's syndrome, Familial adenomatous polyposis) · plakoglobin (Naxos syndrome) · GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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