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Nails, Malformed

MedGen UID:
6514
•Concept ID:
C0027344
•
Anatomical Abnormality
Synonyms: Malformed Nail; Malformed Nails; Nail, Malformed

Definition

Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNails, Malformed

Professional guidelines

PubMed

Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.
Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS
Hum Mol Genet 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. PMID: 32592473Free PMC Article
Onychotillomania: Diagnosis and Management.
Halteh P, Scher RK, Lipner SR
Am J Clin Dermatol 2017 Dec;18(6):763-770. doi: 10.1007/s40257-017-0289-6. PMID: 28488241

Recent clinical studies

Etiology

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Common diseases of the nail: Diagnosis and therapy.
Löser CR, Nenoff P, Mainusch O, Dippel E, Balakirski G
J Dtsch Dermatol Ges 2021 Dec;19(12):1761-1775. Epub 2021 Dec 4 doi: 10.1111/ddg.14627. PMID: 34862725
Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.
Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
A Review of Nail Dystrophies for the Practitioner.
Bloom A, Blanken B, Schlakman B, Arena T, Mironov Z, Vlahovic TC
Adv Skin Wound Care 2020 Jan;33(1):20-26. doi: 10.1097/01.ASW.0000613536.27194.3c. PMID: 31856029
Twenty-Nail Dystrophy: Revisited.
Sehgal VN, Chatterjee K, Malhotra S
Skinmed 2018;16(2):119. Epub 2018 Apr 1 PMID: 29911530

Diagnosis

Leukonychia: What Can White Nails Tell Us?
Iorizzo M, Starace M, Pasch MC
Am J Clin Dermatol 2022 Mar;23(2):177-193. Epub 2022 Feb 2 doi: 10.1007/s40257-022-00671-6. PMID: 35112320Free PMC Article
Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.
Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
A Review of Nail Dystrophies for the Practitioner.
Bloom A, Blanken B, Schlakman B, Arena T, Mironov Z, Vlahovic TC
Adv Skin Wound Care 2020 Jan;33(1):20-26. doi: 10.1097/01.ASW.0000613536.27194.3c. PMID: 31856029
Onychotillomania: Diagnosis and Management.
Halteh P, Scher RK, Lipner SR
Am J Clin Dermatol 2017 Dec;18(6):763-770. doi: 10.1007/s40257-017-0289-6. PMID: 28488241
Nail surgery.
Haneke E
Clin Dermatol 2013 Sep-Oct;31(5):516-25. doi: 10.1016/j.clindermatol.2013.06.012. PMID: 24079580

Therapy

Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.
Gupta MK, Lipner SR
Dermatol Clin 2021 Apr;39(2):221-230. Epub 2021 Feb 10 doi: 10.1016/j.det.2020.12.002. PMID: 33745635
Beau's lines.
Jandial A, Mishra K, Prakash G, Malhotra P
BMJ Case Rep 2018 Mar 28;2018 doi: 10.1136/bcr-2018-224978. PMID: 29593008Free PMC Article
Onychotillomania: Diagnosis and Management.
Halteh P, Scher RK, Lipner SR
Am J Clin Dermatol 2017 Dec;18(6):763-770. doi: 10.1007/s40257-017-0289-6. PMID: 28488241
Doxorubicin-induced hyperpigmentation.
Abbasi NR, Wang N
Dermatol Online J 2008 Oct 15;14(10):18. PMID: 19061617
Pediatric nail disorders.
Lembach L
Clin Podiatr Med Surg 2004 Oct;21(4):641-50. doi: 10.1016/j.cpm.2004.05.014. PMID: 15450903

Prognosis

A Review of Nail Dystrophies for the Practitioner.
Bloom A, Blanken B, Schlakman B, Arena T, Mironov Z, Vlahovic TC
Adv Skin Wound Care 2020 Jan;33(1):20-26. doi: 10.1097/01.ASW.0000613536.27194.3c. PMID: 31856029
Twenty-Nail Dystrophy: Revisited.
Sehgal VN, Chatterjee K, Malhotra S
Skinmed 2018;16(2):119. Epub 2018 Apr 1 PMID: 29911530
Nail changes in alopecia areata: an update and review.
Chelidze K, Lipner SR
Int J Dermatol 2018 Jul;57(7):776-783. Epub 2018 Jan 10 doi: 10.1111/ijd.13866. PMID: 29318582
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459
Psoriatic arthritis.
Moll JM, Wright V
Semin Arthritis Rheum 1973;3(1):55-78. doi: 10.1016/0049-0172(73)90035-8. PMID: 4581554

Clinical prediction guides

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V
Mol Neurobiol 2022 Aug;59(8):4825-4838. Epub 2022 May 31 doi: 10.1007/s12035-022-02886-4. PMID: 35639255Free PMC Article
Dyskeratosis congenita.
Keeling B, Antia C, Steadmon M, Wesson S, Williams C
Dermatol Online J 2014 Sep 16;20(9) PMID: 25244172
The nail in the elderly.
Baran R
Clin Dermatol 2011 Jan-Feb;29(1):54-60. doi: 10.1016/j.clindermatol.2010.07.008. PMID: 21146733
Clinical and pathological features of pachyonychia congenita.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB
J Investig Dermatol Symp Proc 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. PMID: 16250204
Craniofrontonasal dysplasia.
Kapusta L, Brunner HG, Hamel BC
Eur J Pediatr 1992 Nov;151(11):837-41. doi: 10.1007/BF01957936. PMID: 1468459

Recent systematic reviews

Beau's Lines and Onychomadesis: A Systematic Review of Characteristics and Aetiology.
Kim BR, Yu DA, Lee SR, Lim SS, Mun JH
Acta Derm Venereol 2023 Oct 30;103:adv18251. doi: 10.2340/actadv.v103.18251. PMID: 37902467Free PMC Article
Hand ultrasound patterns in rheumatoid and psoriatic arthritis: the role of ultrasound in the differential diagnosis.
Sapundzhieva T, Karalilova R, Batalov A
Rheumatol Int 2020 Jun;40(6):837-848. Epub 2020 Mar 24 doi: 10.1007/s00296-020-04559-8. PMID: 32211929
A systematic review of reported cases of pachyonychia congenita tarda.
Tatiane A, Slape D, Lawless R, Frew JW
Clin Exp Dermatol 2019 Aug;44(6):606-612. Epub 2019 May 10 doi: 10.1111/ced.13980. PMID: 31074523

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