Nail-Patella Syndrome

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Nail-Patella Syndrome

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Nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD), is an uncommon genetically determined disease that involves organs of both ectodermal and mesodermal origin. Chatelain described NPS in 1820, and Little first documented its hereditary nature in 1897.^[1]See the image below.

Nail-patella syndrome (NPS) is inherited as an autosomal dominant trait with a high degree of penetrance but variable expression. Autosomal recessive mode of inheritance has also been reported^[2]; 88% of individuals with NPS have an affected parent.^[3]The responsible gene was described by Dreyer et al in 1998.^[4]The protein encoded by LMX1B is responsible for the normal dorsoventral patterning of the limb, morphogenesis of the glomerular basement membrane and anterior segment of the eye.^{[5, 6, 7]}Heterozygous variants in LMX1B are responsible for NPS, and it has been postulated that the variable expressivity is due to the interaction of LMX1B with other developmental genes.^[8]

Numerous studies have demonstrated that the NPS locus is linked to that of the ABO blood group^[9]and the enzyme adenylate kinase.^[10]The NPS locus has been linked to the locus of the alpha1 chain of type 5 collagen. LMX1B is involved in the regulation of collagen IV expression and in the transcriptional regulation of podocyte specification and differentiation^[11](LMX1B regulates genes, which encode proteins associated with the actin cytoskeleton important for podocyte function).^[12]At present, no evidence for a correlation between the presence and severity of the clinical anomalies and the LMX1B genotype has been found.^{[13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 3, 26, 27, 28, 29, 30, 31, 32]}A hypothesis of genetic heterogenicity was raised by Ghoumid et al, with 38 different LMX1B variants or deletions identified.^[33]More recently, missense mutations in the homeodomain of LMX1B have been identified to cause a kidney-limited phenotype of NPS without extrarenal manifestations.^{[34, 35]}Pathogenic mutations in the LMXB1 gene explain approximately 95% of NPS cases, with 5% of cases remaining unexplained. Mutation of WiF1, involved in mesoderm segmentation, was reported as a suspected cause of NPS in a family negative for the LMX1B mutation.^[36]

The diagnostic tetrad includes fingernail dysplasia, absent or hypoplastic patellae, presence of posterior conical iliac horns, and deformation or luxation (ie. hypoplasia) of the radial heads. The clinical manifestations are extremely variable in both frequency and severity, with interfamilial and intrafamilial variability.^[37]Kidney disease (focal segmental glomerulosclerosis) and glaucoma are now recognized as part of the syndrome.^[38]The most serious complication associated with NPS is nephropathy.^{[39, 40]}

A postulated cause of the progressive renal disease is secondary immune damage to the altered glomerular basement membrane. Curtis et al described a series of patients with NPS who had immune complex nephropathy and altered collagen, and they remarked that the patients with NPS were indistinguishable from patients with Goodpasture disease.^[41]

Numerous other skeletal and eye anomalies are also described in patients with NPS.

The mechanisms underlying the different manifestations and severity of the symptoms in nail-patella syndrome (NPS) remain uncertain.

NPS is known to be an autosomal dominant hereditary disease affecting development of the limbs, kidneys, and eyes. A genetic abnormality is believed to lead to altered connective-tissue metabolism with widespread structural defects in collagen.

Abnormal collagen type 3 deposition in the glomeruli probably causes the nephropathy associated with NPS.^{[42, 43]}

The prevalence is estimated to be 1 case in 50,000 live births.

No clear racial predominance is recognized.

Both sexes are equally affected.

No preferential age at onset has been reported; individuals of any age can be affected.

Prognosis is determined by the associated abnormalities, mainly nephropathy.^[44]The incidence of nephropathy in nail-patella syndrome (NPS) is reported to be approximately 40% among patients with various degrees of dysfunction. Of these patients, 10% die of renal insufficiency.

Genetic counseling is recommended.

Little EM. Congenital absence or delayed development of the patella. Lancet. 25 Sep. 1897. 150:781-784.

Al-Dawsari N, Al-Mokhadam A, Al-Abdulwahed H, Al-Sannaa N. Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. J Cutan Med Surg. 2015 Nov-Dec. 19 (6):595-9. [Medline].

Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003 Mar. 40(3):153-62. [Medline].

Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998 May. 19(1):47-50. [Medline].

Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, et al. Clinico-genetic study of nail-patella syndrome. J Korean Med Sci. 2009 Jan. 24 Suppl:S82-6. [Medline].

Dai JX, Johnson RL, Ding YQ. Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. Dev Growth Differ. 2009 Apr. 51 (3):241-50. [Medline].

Cross SH, Macalinao DG, McKie L, Rose L, Kearney AL, Rainger J, et al. A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]. PLoS Genet. 2014 May. 10 (5):e1004359. [Medline].

Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, et al. Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?. Eur J Hum Genet. 2018 Nov. 26 (11):1708-1712. [Medline].

Renwick JH, Lawler SD. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet. 1955 Jun. 19 (4):312-31. [Medline].

Schleutermann DA, Bias WB, Murdoch JL, McKusick VA. Linkage of the loci for the nail-patella syndrome and adenylate kinase. Am J Hum Genet. 1969 Nov. 21 (6):606-30. [Medline].

Burghardt T, Kastner J, Suleiman H, Rivera-Milla E, Stepanova N, Lottaz C, et al. LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys. J Am Soc Nephrol. 2013 Nov. 24 (11):1830-48. [Medline].

Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017 Aug. 469 (7-8):927-936. [Medline].

Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002 Sep. 17(9):703-12. [Medline].

Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005 Aug. 13(8):935-46. [Medline].

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet. 2005 Oct. 68(4):302-19. [Medline].

Dunston JA, Hamlington JD, Zaveri J, et al. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics. 2004 Sep. 84(3):565-76. [Medline].

Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I. Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet. 2005 Jan. 69:1-8. [Medline].

Dunston JA, Reimschisel T, Ding YQ, et al. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. Eur J Hum Genet. 2005 Mar. 13(3):330-5. [Medline].

Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB. Human collagen gene COL5A1 maps to the q34.2—-q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics. 1992 Apr. 12(4):836-7. [Medline].

Heidet L, Bongers EM, Sich M, et al. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol. 2003 Jul. 163(1):145-55. [Medline].

Lin WD, Chen CP, Wang DY, Tsai FJ. Gene symbol: LMX1B. Disease: Nail-patella syndrome. Hum Genet. 2008 Oct. 124(3):295-6. [Medline].

Lin Y, Zhao J, Chen S, et al. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. Bone. 2008 Sep. 43(3):591-5. [Medline].

Marini M, Bongers EM, Cusano R, et al. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med. 2003 Jul. 12(1):79-82. [Medline].

Marini M, Giacopelli F, Seri M, Ravazzolo R. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. Eur J Hum Genet. 2005 Jun. 13(6):789-92. [Medline].

Midro AT, Panasiuk B, Tumer Z, et al. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15. 124A(2):179-91. [Medline].

Verdich J. Nail–patella syndrome associated with renal failure requiring transplantation. Acta Derm Venereol. 1980. 60(5):440-3. [Medline].

Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, et al. FZD6 encoding the Wnt receptor frizzled-6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2011 Dec 28. [Medline].

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, et al. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med. 2010 Jul. 12(7):431-9. [Medline].

Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Combined TSC1 and LMX1B mutations in a single patient. Clin Dysmorphol. 2014 Apr. 23(2):47-51. [Medline].

Zhou TB, Xu HL, Qin YH, Lei FY, Huang WF, Drummen GP. LIM homeobox transcription factor 1B is associated with pro-fibrotic components and apoptosis in hypoxia/reoxygenation renal tubular epithelial cells. Apoptosis. 2014 Apr. 19(4):594-602. [Medline].

McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005 Jul. 69(Pt 4):349-63. [Medline].

Bongers EM, Knoers NV. [From gene to disease; the nail-patella syndrome and the LMX1B gene]. Ned Tijdschr Geneeskd. 2003 Jan 11. 147(2):67-9. [Medline].

Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, et al. Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016 Jan. 24 (1):44-50. [Medline].

Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, et al. Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. Sci Rep. 2017 Jan 6. 7:39933. [Medline].

Mukai M, Fujita H, Umegaki-Arao N, Sasaki T, Yasuda-Sekiguchi F, Isojima T, et al. A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. J Dermatol Sci. 2018 Apr. 90 (1):90-93. [Medline].

Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, et al. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 Oct. 19 (10):1179-1183. [Medline].

Sweeney E, Hoover-Fong JE, McIntosh I, Pagon RA, Adam MP, Ardinger HH, et al. Nail-Patella Syndrome. 1993. [Medline]. [Full Text].

Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013 Jul. 24(8):1216-22. [Medline].

Senguttuvan NB, Sivaraman A, Kandasamy D, Marimuthu K. Nail patella syndrome: a rare cause of renal failure in a young adult. Pan Afr Med J. 2011. 9:31. [Medline]. [Full Text].

Kamath S, Bhagwandas K. Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. Pediatr Dermatol. 2010 Jan-Feb. 27(1):95-7. [Medline].

Curtis JJ, Bhathena D, Leach RP, Galla JH, Lucas BA, Luke RG. Goodpasture’s syndrome in a patient with the Nail-Patella syndrome. Am J Med. 1976 Sep. 61(3):401-6. [Medline].

Anitha A, Vankalakunti M, Siddini V, Babu K, Bonu R, Ballal S. Type III collagen disorders: A case report and review of literature. Indian J Pathol Microbiol. 2016 Jan-Mar. 59 (1):75-7. [Medline].

Pascoe VL, Fenves AZ, Wofford J, Jackson JM, Menter A, Kimball AB. The spectrum of nephrocutaneous diseases and associations: Inflammatory and medication-related nephrocutaneous associations. J Am Acad Dermatol. 2016 Feb. 74 (2):247-70; quiz 271-2. [Medline].

Louboutin L, Wascher D, Neyret P. Management of patellar problems in skeletally mature patients with nail-patella syndrome. Knee Surg Sports Traumatol Arthrosc. 2016 Feb 12. [Medline].

Beguiristain JL, de Rada PD, Barriga A. Nail-patella syndrome: long term evolution. J Pediatr Orthop B. 2003 Jan. 12(1):13-6. [Medline].

Gong Y, Yang C, Liu Y, Liu J, Qi X. Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. Exp Ther Med. 2016 Jun. 11 (6):2361-2364. [Medline].

Vanlerberghe C, Boutry N, Petit F. Genetics of patella hypoplasia/agenesis. Clin Genet. 2018 Jul. 94 (1):43-53. [Medline].

Haras B, Vulpoi F, Onose G. A case of nail-patella syndrome associated with thyrotoxicosis. J Med Life. 2012 Feb 22. 5 (1):126-9. [Medline].

Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009 Dec. 24(12):2345-54. [Medline].

Wright MJ, Ain MC, Clough MV, Bellus GA, Hurko O, McIntosh I. Achondroplasia and nail-patella syndrome: the compound phenotype. J Med Genet. 2000 Sep. 37(9):E25. [Medline].

Figueroa-Silva O, Vicente A, Agudo A, Baliu-Piqué C, Gómez-Armayones S, Aldunce-Soto MJ, et al. Nail-patella syndrome: report of 11 pediatric cases. J Eur Acad Dermatol Venereol. 2016 Sep. 30 (9):1614-7. [Medline].

Oshimo T, Fukai K, Higashi N, et al. A novel LMX1B nonsense mutation in a family with nail-patella syndrome. J Dermatol Sci. 2008 Oct. 52(1):57-60. [Medline].

Bunjes BG, Fernandes MDCF. Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding. An Bras Dermatol. 2017 Mar-Apr. 92 (2):273-274. [Medline].

Fong EE. “Iliac horns” (symmetrical bilateral central posterior iliac processes). A case report. Radiology. 1946. 47:517-8.

Goshen E, Schwartz A, Zilka LR, Zwas ST. Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. Clin Nucl Med. 2000 Jun. 25(6):476-7. [Medline].

Hennessey TA, Backman SB, Meterissian SH, Schricker T. Nail-Patella syndrome: a case report and anesthetic implications. Can J Anaesth. 2007 Oct. 54(10):835-9. [Medline].

Lo Sicco K, Sadeghpour M, Ferris L. Nail-patella syndrome. J Drugs Dermatol. 2015 Jan. 14 (1):85-6. [Medline].

Itin P. [Alterations in nails and teeth as a clue for genodermatoses]. Hautarzt. 2014 Jun. 65 (6):513-9. [Medline].

Price A, Cervantes J, Lindsey S, Aickara D, Hu S. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018 Feb. 101 (2):126-129. [Medline].

Inamadar AC, Palit A. Nails: diagnostic clue to genodermatoses. Indian J Dermatol Venereol Leprol. 2012 May-Jun. 78(3):271-8. [Medline].

Tong SY, Luk HM, Tong TM, Lo IF. The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia. Hong Kong Med J. 2015 Dec. 21 (6):573.e3-5. [Medline].

Nandedkar-Thomas MA, Scher RK. An update on disorders of the nails. J Am Acad Dermatol. 2005 May. 52(5):877-87. [Medline].

Neri I, Piccolo V, Balestri R, Piraccini BM, Patrizi A. Median nail damage in nail-patella syndrome associated with triangular lunulae. Br J Dermatol. 2015 Dec. 173 (6):1559-61. [Medline].

Schneider SL, Tosti A. Tips to diagnose uncommon nail disorders. Dermatol Clin. 2015 Apr. 33 (2):197-205. [Medline].

Dyer JA, Jourdan SJ, Dyer GA. Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome. Mo Med. 2007 Nov-Dec. 104(6):506-8. [Medline].

Daniel CR 3rd, Osment LS, Noojin RO. Triangular lunulae. A clue to nail-patella syndrome. Arch Dermatol. 1980 Apr. 116(4):448-9. [Medline].

Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015 Dec. 101 (8):959-62. [Medline].

Louboutin L, Wascher D, Neyret P. Management of patellar problems in skeletally mature patients with nail-patella syndrome. Knee Surg Sports Traumatol Arthrosc. 2017 Oct. 25 (10):3012-3016. [Medline].

Duygun F, Sertkaya O, Aldemir C, Dogan A. Isolated unilateral absent patella and contralateral small patella. BMJ Case Rep. 2013. 2013:[Medline].

Lippacher S, Mueller-Rossberg E, Reichel H, Nelitz M. Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. Orthop Traumatol Surg Res. 2013 Oct. 99(6):749-54. [Medline].

West JA, Louis TH. Radiographic findings in the nail-patella syndrome. Proc (Bayl Univ Med Cent). 2015 Jul. 28 (3):334-6. [Medline].

Feingold M, Itzchak Y, Goodman RM. Ultrasound prenatal diagnosis of the Nail-Patella syndrome. Prenat Diagn. 1998 Aug. 18 (8):854-6. [Medline].

Neill SC, Murphy CG, McElwain JP. A hypoplastic patella fracture in nail patella syndrome: a case report. J Med Case Rep. 2012. 6(1):196. [Medline].

Granata A, Nori G, Ravazzolo R, et al. Nail-patella syndrome and renal involvement. Description of three cases and literature review. Clin Nephrol. 2008 May. 69(5):377-82. [Medline].

Hawkins CF, Smith OE. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet. 1950 Apr 29. 1(6609):803-8. [Medline].

Aboobacker IN, Krishnakumar A, Narayanan S, Hafeeque B, Gopinathan JC, Aziz F. Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. Indian J Nephrol. 2018 Jan-Feb. 28 (1):76-78. [Medline].

Hari P, Mantan M, Dinda A, Hari S, Bagga A. Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome. Pediatr Nephrol. 2006 Aug. 21(8):1197-9. [Medline].

Cohen AH. Collagen Type III Glomerulopathies. Adv Chronic Kidney Dis. 2012 Mar. 19(2):101-6. [Medline].

Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017 Mar 23. 18 (1):100. [Medline].

Wofford J, Fenves AZ, Jackson JM, Kimball AB, Menter A. The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease. J Am Acad Dermatol. 2016 Feb. 74 (2):231-44; quiz 245-6. [Medline].

Albishri J. Arthropathy and proteinuria: nail-patella syndrome revisited. Ger Med Sci. 2014. 12:Doc16. [Medline].

Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2016 Jul 23. [Medline].

Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology (Carlton). 2016 Sep. 21 (9):765-73. [Medline].

Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, et al. A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’. Clin Kidney J. 2015 Feb. 8 (1):113-9. [Medline].

Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017 Oct. 32 (10):1845-1850. [Medline].

Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol. 1997 Oct. 124 (4):506-15. [Medline].

Nicolle P, Baudouin C, Brasnu E. [Nail-patella syndrome and glaucoma: A case report]. J Fr Ophtalmol. 2017 Feb. 40 (2):e51-e53. [Medline].

Mimiwati Z, Mackey DA, Craig JE, et al. Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol. 2006 Dec. 90(12):1505-9. [Medline].

Itin PH, Eich G, Fistarol SK. Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. Dermatology. 2006. 213(2):153-5. [Medline].

Edmunds MR, Kipioti A, Colloby PS, Reuser TT. A case of ectopic cilia in nail-patella syndrome. Int Ophthalmol. 2012 Jun. 32(3):289-92. [Medline].

Waziri TM, Milants A, Bollineni VR, Maeseneer M. Hips Don’t Lie: Fong Disease. J Belg Soc Radiol. 2017 Apr 26. 101 (1):23. [Medline].

López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, et al. Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan. 156B (1):59-66. [Medline].

Bergman O, Westberg L, Nilsson LG, Adolfsson R, Eriksson E. Preliminary evidence that polymorphisms in dopamine-related transcription factors LMX1A, LMX1B and PITX3 are associated with schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry. 2010 Aug 16. 34 (6):1094-7. [Medline].

Nashelsky Zolotov L, Reinstein E. Schizophrenia and Nail Patella Syndrome: The Dopamine Connection. Isr Med Assoc J. 2018 Aug. 20 (8):496-498. [Medline].

Goecke C, Mellado C, García C, García H. Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. Rev Chil Pediatr. 2018 Feb. 89 (1):107-112. [Medline].

Jansen T, Happe M, Luther H, Altmeyer P. [Nail-patella syndrome. Possible kidney failure as a complication]. MMW Fortschr Med. 2000 Nov 9. 142(45):50-1. [Medline].

Agarwal S, Divecha C, Tullu MS, Deshmukh CT. A rare case of nephrotic syndrome: ‘nailed’ the diagnosis. J Postgrad Med. 2014 Apr-Jun. 60 (2):179-82. [Medline].

Konrads C, Reppenhagen S, Plumhoff P, Rudert M, Steinert A, Barthel T. Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. SICOT J. 2016. 2:26. [Medline].

Tigchelaar S, Rooy Jd, Hannink G, Koëter S, van Kampen A, Bongers E. Radiological characteristics of the knee joint in nail patella syndrome. Bone Joint J. 2016 Apr. 98-B (4):483-9. [Medline].

Pechman KJ, Bergfeld WF. Palmar-plantar hyperhidrosis occurring in a kindred with nail-patella syndrome. J Am Acad Dermatol. 1980 Dec. 3(6):627-32. [Medline].

Smereczynski A, Gdakowicz B, Marcinkowska M. [A case of nail-patella syndrome]. Pol Tyg Lek. 1986 May 19. 41(20):662-3. [Medline].

Towers AL, Clay CA, Sereika SM, McIntosh I, Greenspan SL. Skeletal integrity in patients with nail patella syndrome. J Clin Endocrinol Metab. 2005 Apr. 90(4):1961-5. [Medline].

Álvarez-Martín N, Gamundi MJ, Hernan I, Carballo M, Luis-Yanes MI, García-Nieto V. Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. Nefrologia. 2013. 33(4):585-6. [Medline].

Koëter S, Tigchelaar S, Bongers E. Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12. Knee Surg Sports Traumatol Arthrosc. 2018 Mar 28. [Medline].

Padmanabhan LD, Yesodharan D, Nampoothiri S. Prenatal diagnosis of nail patella syndrome: A case report. Indian J Radiol Imaging. 2017 Jul-Sep. 27 (3):329-331. [Medline].

Morita T, Laughlin LO, Kawano K, Kimmelstiel P, Suzuki Y, Churg J. Nail-Patella syndrome. Light and electron microscopic studies of the kidney. Arch Intern Med. 1973 Feb. 131(2):271-7. [Medline].

Heckman DS, McCoy AJ, Spritzer CE, Garrett WE. Intercondylar synovial septum in two patients with nail-patella syndrome. J Knee Surg. 2013 Dec. 26 Suppl 1:S107-11. [Medline].

Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009 Apr. 24(4):1335-8. [Medline].

Curbo ME, Park KJ, Brown LD, Incavo SJ. Total knee arthroplasty in a patient with nail-patella syndrome (NPS). Knee. 2018 Nov 29. [Medline].

Lachiewicz PF, Herndon CD. Total knee arthroplasty for osteoarthritis in hereditary onycho-osteodysplasia (nail-patella syndrome): a case report. Am J Orthop (Belle Mead NJ). 1997 Feb. 26 (2):129-30. [Medline].

Elston DM, Peters J, Morrison WB. What is your diagnosis? Nail-patella syndrome. Cutis. 2000 Jul. 66(1):71, 75-6. [Medline].

Anna Choczaj-Kukula, MD, PhD Consultant Dermatologist, Royal Free London NHS Trust, UK

Anna Choczaj-Kukula, MD, PhD is a member of the following medical societies: British Association of Dermatologists, American Academy of Dermatology, European Academy of Dermatology and Venereology, Royal Society of Medicine

Disclosure: Partner received salary from Johnson & Johnson for management position.

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology