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Abnormal toenail morphology

MedGen UID:
825598
Concept ID:
C3839753
Anatomical Abnormality; Finding
Synonyms: Abnormality of nail of toe; Abnormality of the toenail; Abnormality of the toenails; Toenail abnormality
SNOMED CT: Toenail abnormality (700189007); Abnormality of nail of toe (700189007)
 
HPO: HP:0008388

Definition

An anomaly of the toenail. [from HPO]

Conditions with this feature

Martsolf syndrome 1
MedGen UID:
1778114
Concept ID:
C5542298
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.

Professional guidelines

PubMed

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
Herrick AL
Nat Rev Rheumatol 2012 Aug;8(8):469-79. Epub 2012 Jul 10 doi: 10.1038/nrrheum.2012.96. PMID: 22782008
Hinds G, Thomas VD
Dermatol Clin 2008 Jan;26(1):59-68, viii. doi: 10.1016/j.det.2007.08.003. PMID: 18023771

Recent clinical studies

Etiology

Smith V, Ickinger C, Hysa E, Snow M, Frech T, Sulli A, Cutolo M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101849. Epub 2023 Jul 6 doi: 10.1016/j.berh.2023.101849. PMID: 37419757
Fukasawa T, Toyama S, Enomoto A, Yoshizaki-Ogawa A, Norimatsu Y, Tateishi S, Kanda H, Miyagawa K, Sato S, Yoshizaki A
Rheumatology (Oxford) 2023 Jul 5;62(7):2418-2425. doi: 10.1093/rheumatology/keac664. PMID: 36440919
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
Smith V, Herrick AL, Ingegnoli F, Damjanov N, De Angelis R, Denton CP, Distler O, Espejo K, Foeldvari I, Frech T, Garro B, Gutierrez M, Gyger G, Hachulla E, Hesselstrand R, Iagnocco A, Kayser C, Melsens K, Müller-Ladner U, Paolino S, Pizzorni C, Radic M, Riccieri V, Snow M, Stevens W, Sulli A, van Laar JM, Vonk MC, Vanhaecke A, Cutolo M; EULAR Study Group on Microcirculation in Rheumatic Diseases and the Scleroderma Clinical Trials Consortium Group on Capillaroscopy
Autoimmun Rev 2020 Mar;19(3):102458. Epub 2020 Jan 10 doi: 10.1016/j.autrev.2020.102458. PMID: 31927087
Savage SA, Alter BP
Hematol Oncol Clin North Am 2009 Apr;23(2):215-31. doi: 10.1016/j.hoc.2009.01.003. PMID: 19327580Free PMC Article

Diagnosis

Smith V, Ickinger C, Hysa E, Snow M, Frech T, Sulli A, Cutolo M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101849. Epub 2023 Jul 6 doi: 10.1016/j.berh.2023.101849. PMID: 37419757
Smith V, Herrick AL, Ingegnoli F, Damjanov N, De Angelis R, Denton CP, Distler O, Espejo K, Foeldvari I, Frech T, Garro B, Gutierrez M, Gyger G, Hachulla E, Hesselstrand R, Iagnocco A, Kayser C, Melsens K, Müller-Ladner U, Paolino S, Pizzorni C, Radic M, Riccieri V, Snow M, Stevens W, Sulli A, van Laar JM, Vonk MC, Vanhaecke A, Cutolo M; EULAR Study Group on Microcirculation in Rheumatic Diseases and the Scleroderma Clinical Trials Consortium Group on Capillaroscopy
Autoimmun Rev 2020 Mar;19(3):102458. Epub 2020 Jan 10 doi: 10.1016/j.autrev.2020.102458. PMID: 31927087
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Lencastre A, Lamas A, Sá D, Tosti A
Clin Dermatol 2013 Sep-Oct;31(5):587-93. doi: 10.1016/j.clindermatol.2013.06.016. PMID: 24079588
Grinzi P
Aust Fam Physician 2011 Jul;40(7):476-84. PMID: 21743851

Therapy

Reszke R, Szepietowski JC
Expert Opin Drug Saf 2020 Apr;19(4):373-380. Epub 2020 Mar 11 doi: 10.1080/14740338.2020.1736553. PMID: 32129112
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Khunger N, Kandhari R
Indian J Dermatol Venereol Leprol 2012 May-Jun;78(3):279-89. doi: 10.4103/0378-6323.95442. PMID: 22565427
Haneke E
J Cosmet Dermatol 2006 Mar;5(1):95-100. doi: 10.1111/j.1473-2165.2006.00232.x. PMID: 17173580
Kirkpatrick CH
J Am Acad Dermatol 1994 Sep;31(3 Pt 2):S14-7. doi: 10.1016/s0190-9622(08)81260-1. PMID: 8077500

Prognosis

Smith V, Ickinger C, Hysa E, Snow M, Frech T, Sulli A, Cutolo M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101849. Epub 2023 Jul 6 doi: 10.1016/j.berh.2023.101849. PMID: 37419757
Fukasawa T, Toyama S, Enomoto A, Yoshizaki-Ogawa A, Norimatsu Y, Tateishi S, Kanda H, Miyagawa K, Sato S, Yoshizaki A
Rheumatology (Oxford) 2023 Jul 5;62(7):2418-2425. doi: 10.1093/rheumatology/keac664. PMID: 36440919
Smith V, Herrick AL, Ingegnoli F, Damjanov N, De Angelis R, Denton CP, Distler O, Espejo K, Foeldvari I, Frech T, Garro B, Gutierrez M, Gyger G, Hachulla E, Hesselstrand R, Iagnocco A, Kayser C, Melsens K, Müller-Ladner U, Paolino S, Pizzorni C, Radic M, Riccieri V, Snow M, Stevens W, Sulli A, van Laar JM, Vonk MC, Vanhaecke A, Cutolo M; EULAR Study Group on Microcirculation in Rheumatic Diseases and the Scleroderma Clinical Trials Consortium Group on Capillaroscopy
Autoimmun Rev 2020 Mar;19(3):102458. Epub 2020 Jan 10 doi: 10.1016/j.autrev.2020.102458. PMID: 31927087
Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095
Cutolo M, Sulli A, Smith V
Best Pract Res Clin Rheumatol 2013 Apr;27(2):237-48. doi: 10.1016/j.berh.2013.03.001. PMID: 23731933

Clinical prediction guides

Smith V, Ickinger C, Hysa E, Snow M, Frech T, Sulli A, Cutolo M
Best Pract Res Clin Rheumatol 2023 Mar;37(1):101849. Epub 2023 Jul 6 doi: 10.1016/j.berh.2023.101849. PMID: 37419757
Fukasawa T, Toyama S, Enomoto A, Yoshizaki-Ogawa A, Norimatsu Y, Tateishi S, Kanda H, Miyagawa K, Sato S, Yoshizaki A
Rheumatology (Oxford) 2023 Jul 5;62(7):2418-2425. doi: 10.1093/rheumatology/keac664. PMID: 36440919
Smith V, Herrick AL, Ingegnoli F, Damjanov N, De Angelis R, Denton CP, Distler O, Espejo K, Foeldvari I, Frech T, Garro B, Gutierrez M, Gyger G, Hachulla E, Hesselstrand R, Iagnocco A, Kayser C, Melsens K, Müller-Ladner U, Paolino S, Pizzorni C, Radic M, Riccieri V, Snow M, Stevens W, Sulli A, van Laar JM, Vonk MC, Vanhaecke A, Cutolo M; EULAR Study Group on Microcirculation in Rheumatic Diseases and the Scleroderma Clinical Trials Consortium Group on Capillaroscopy
Autoimmun Rev 2020 Mar;19(3):102458. Epub 2020 Jan 10 doi: 10.1016/j.autrev.2020.102458. PMID: 31927087
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Lencastre A, Lamas A, Sá D, Tosti A
Clin Dermatol 2013 Sep-Oct;31(5):587-93. doi: 10.1016/j.clindermatol.2013.06.016. PMID: 24079588

Recent systematic reviews

Piette Y, Reynaert V, Vanhaecke A, Bonroy C, Gutermuth J, Sulli A, Cutolo M, Smith V
Autoimmun Rev 2022 Jun;21(6):103087. Epub 2022 Apr 12 doi: 10.1016/j.autrev.2022.103087. PMID: 35421608
Schonenberg-Meinema D, Melsens K, Nassar-Sheikh Rashid A, Cutolo M, Kuijpers TW, van den Berg JM, Smith V
Clin Exp Rheumatol 2020 Mar-Apr;38(2):350-354. Epub 2019 Dec 18 doi: 10.55563/clinexprheumatol/azl2bj. PMID: 31858964
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
Cutolo M, Melsens K, Wijnant S, Ingegnoli F, Thevissen K, De Keyser F, Decuman S, Müller-Ladner U, Piette Y, Riccieri V, Ughi N, Vandecasteele E, Vanhaecke A, Smith V
Autoimmun Rev 2018 Apr;17(4):344-352. Epub 2018 Feb 8 doi: 10.1016/j.autrev.2017.11.025. PMID: 29427827
Brauer CA, Lee BM, Bae DS, Waters PM, Kocher MS
J Pediatr Orthop 2007 Mar;27(2):181-6. doi: 10.1097/bpo.0b013e3180316cf1. PMID: 17314643

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