Advertisement

The Skin and the Eyes

  • Anup Kumar TiwaryEmail author
  • Piyush KumarEmail author
  • Soumyajit RoychoudhuryEmail author
  • Anupam DasEmail author
  • Adrija DattaEmail author
  • Raghuraj S. HegdeEmail author
Living reference work entry
  • 15 Downloads

Abstract

Eyes and skin, both are the well-known and potential sites of reflection of systemic/internal disease processes such as collagen vascular diseases, metabolic disorders, genodermatoses and many others. Occasionally, some diseases may have only ocular and cutaneous manifestations. Therefore, both of these organs should be carefully examined and assessed before coming to a diagnosis and initiating treatment.

Keywords

Eye Viral infection Herpes simplex HSV-1 HSV-2 Herpes zoster Shingles Ophthalmic herpes zoster Syphilis Ocular syphilis Lyme disease Borreliosis Cat-scratch disease Parinaud oculoglandular syndrome Leprosy Onchocerciasis River blindness Shistosomiasis Bilharziasis Toxocariasis Ocular toxocariasis Atopic dermatitis Atopic eye disease Rosacea Ocular rosacea Autoimmune bullous disease Pemphigus foliaceous Pemphigus vulgaris Mucous membrane pemphigoid Epidermolysis bullosa acquisita Linear IgA disease Paraneoplastic pemphigus Stevens-Johnson syndrome Toxic epidermal necrolysis Systemic lupus erythematosus Dermatomyositis Sarcoidosis Behcet disease Keratinization disorder X-linked ichthyosis Keratitis-ichthyosis and deafness syndrome KID syndrome Ichthyosis follicularis-alopecia and photophobia syndrome IFAP syndrome Refsum disease Heredopathia atactica polyneuritiformis Lamellar ichthyosis Richner-Hanhart syndrome Oculocutaneous tyrosinemia Sjogren-Larsson syndrome Pigmentary disorder Hypomelanosis Oculocutaneous albinism Waardenburg syndrome Hermansky-Pudlak syndrome Chediak-Higashi syndrome Vogt-Koyanagi-Harada syndrome Hypomelanosis of Ito, hypermelanosis Incontinentia pigmenti Bloch-Sulzberger syndrome Dyskeratosis congenita Zinsser-Cole-Engman syndrome Nevus of Ota Fuscoceruleus ophthalmomaxillaris Photosensitive dermatosis Bloom syndrome Xeroderma pigmentosum Rothmond-Thomson syndrome Poikiloderma congenitale Cockayane syndrome Metabolic disorder Fabry disease Homocystinuria Lipoid proteinosis Urbach-Wiethe disease Hyalinosis cutis et mucosae Hurler syndrome Mucopolysaccharidosis type I Hartnup disease Vascular syndrome Posterior fossa malformations-hemangiomas-arterial anomalies-cardiac defects and Coarctation of the aorta and eye abnormalities PHACES syndrome Sturge-Weber syndrome Neurocutaneous syndrome Tuberous sclerosis complex Neurofibromatosis Adnexal neoplasm Epithelial hyperplasia Seborrheic keratosis Verruca vulgaris Cutaneous horn Epithelial cyst Milia Pilar cyst Trichilemmal cyst Molluscum contagiosum Chalazion Hordeolum Stye Sebaceous cyst Epidermoid cyst Xanthelasma Syringoma Eccrine hidrocystoma Apocrine hidrocystoma Cystadenomas Sudoriferous cyst Melanocytic nevus Lentigo simplex Solar lentigo Lentigo senilis Liver spot Blepharitis Actinic keratosis Bowen’s disease Keratoacanthoma Lentigo maligna Hutchinson’s melanotic freckle Precancerous melanosis Basal cell carcinoma Squamous cell carcinoma Sebaceous cell carcinoma Malignant melanoma 

References

  1. Abdi U, Tyagi N, Maheshwari V, Gogi R, Tyagi SP (1996) Tumours of the eyelid: a clinicopathologic study. J Indian Med Assoc 94(11):405–409PubMedPubMedCentralGoogle Scholar
  2. Ahn SJ, Ryoo NK, Woo SJ (2014) Ocular toxocariasis: clinical features, diagnosis, treatment, and prevention. Asia Pac Allergy 4(3):134–141PubMedPubMedCentralCrossRefGoogle Scholar
  3. Akova YA, Gur GS (2012) Ocular involvement in Behçet’s disease. In: Khatami M (ed) Inflammation, chronic diseases and cancer – cell and molecular biology, immunology and clinical bases. InTech, RijekaGoogle Scholar
  4. Al Fahaad H (2014) Keratitis-ichthyosis-deafness syndrome: first affected family reported in the Middle East. Int Med Case Rep J 7:63–66PubMedPubMedCentralCrossRefGoogle Scholar
  5. Aurora AL, Blodi FC (1970) Lesions of the eyelid: a clinicopathological study. Surv Ophthalmol 15:94–103Google Scholar
  6. Awais M, Anwar MI, Iftikhar R, Iqbal Z, Shehzad N, Akbar B (2015) Rosacea – the ophthalmic perspective. Cutan Ocul Toxicol 34(2):161–166PubMedCrossRefPubMedCentralGoogle Scholar
  7. Bagheri A, Abdollahi A (2010) Hermansky-Pudlak syndrome: a case report. J Ophthalmic Vis Res 5(4):269–272PubMedPubMedCentralGoogle Scholar
  8. Bauer JW, Schaeppi H, Metze D, Pohla-Gubo G, Hametner R, Ruckhofer J, Grabner G, Hintner H (1999) Ocular involvement in IgA-epidermolysis bullosa acquisita. Br J Dermatol 141(5):887–892PubMedCrossRefPubMedCentralGoogle Scholar
  9. Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (2000) Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 9(13):1907–1917PubMedCrossRefPubMedCentralGoogle Scholar
  10. Bouman A, van Koningsbruggen S, Karakullukcu MB, Schreuder WH, Lakeman P (2018) Bloom syndrome does not always present with sun-sensitive facial erythema. Eur J Med Genet 61(2):94–97PubMedCrossRefPubMedCentralGoogle Scholar
  11. Braun-Falco O, Plewig G, Wolff HH, Burgdorf WHC (2000) Chediak-Higashi syndrome. In: Dermatology, 2nd edn. Springer, Berlin, p 1029Google Scholar
  12. Chauhan S, Gahalaut P, Chandra K (2015) Ichthyosis follicularis alopecia and photophobia syndrome: transient improvement with oral isotretinoin. Indian J Paediatr Dermatol 16(1):39–41CrossRefGoogle Scholar
  13. Choudhary MM, Hajj-Ali RA, Lowder CY (2014) Gender and ocular manifestations of connective tissue diseases and systemic vasculitides. J Ophthal 2014:403042Google Scholar
  14. Comi AM (2007) Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol 5(4):257–264PubMedCrossRefPubMedCentralGoogle Scholar
  15. Comi AM (2015a) Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol 22(4):295–301PubMedPubMedCentralCrossRefGoogle Scholar
  16. Comi AM (2015b) Sturge-Weber Syndrome. Handb Clin Neurol 132:157–168PubMedCrossRefPubMedCentralGoogle Scholar
  17. Cunniff C, Bassetti JA, Ellis NA (2017) Bloom’s syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol 8(1):4–23PubMedCrossRefPubMedCentralGoogle Scholar
  18. Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657–668PubMedCrossRefPubMedCentralGoogle Scholar
  19. D’Acremont V, Ambresin AE, Burnand B, Genton B (2003) Practice guidelines for evaluation of fever in returning travellers or migrants. J Travel Med 10(Suppl 2):25–52Google Scholar
  20. D’Cruz DP, Khamashta MA, Hughes GR (2007) Systemic lupus erythematosus. Lancet 369(9561):587–596PubMedCrossRefPubMedCentralGoogle Scholar
  21. Dailey JR, Kennedy RH, Flaharty PM, Eagle RC Jr, Flanagan JC (1994) Squamous cell carcinoma of the eyelid. Ophthal Plast Reconstr Surg 10(3):153–159PubMedCrossRefPubMedCentralGoogle Scholar
  22. Daoud YJ, Cervantes R, Foster CS, Ahmed AR (2005) Ocular pemphigus. J Am Acad Dermatol 53(4):585–590PubMedCrossRefPubMedCentralGoogle Scholar
  23. Das A, Khanra D, Podder I, Das NK (2015) Hypomelanosis of Ito with seizures in a mentally retarded child. Pigment Int 2(1):64–66CrossRefGoogle Scholar
  24. Davis-Reed L, Theis JH (2000) Cutaneous schistosomiasis: report of a case and review of the literature. J Am Acad Dermatol 42(4):678–680PubMedCrossRefPubMedCentralGoogle Scholar
  25. de Melo IS, dos Reis Gadelha A, de Lima Ferreira CL (2003) Histopathological study of erythema chronicum migrans cases diagnosed in Manaus. An Bras Dermatol 78(2):169–117CrossRefGoogle Scholar
  26. Deshmukh R, Raut A, Sonone S, Pawar S, Bharude N, Umarkar A, Laddha G, Shimp R (2012) Herpes zoster (hz): a fatal viral disease: a comprehensive review. Int J Pharm Chem Biol Sci 2:138–145Google Scholar
  27. Di Maio N, Vicidomini R, Angrisani A, Belli V, Furia M, Turano M (2017) A new role for human dyskerin in vesicular trafficking. FEBS Open Bio 7(10):1453–1468PubMedPubMedCentralCrossRefGoogle Scholar
  28. Dogra S, Kumaran MS, Narang T, Radotra BD, Kumar B (2013) Clinical characteristics and outcome in multibacillary (MB) leprosy patients treated with 12 months WHO MDT-MBR: a retrospective analysis of 730 patients from a leprosy clinic at a tertiary care hospital of Northern India. Lepr Rev 84(1):65–75PubMedPubMedCentralGoogle Scholar
  29. Ebrahimi-Fakhari D, Meyer S, Vogt T, Pföhler C, Müller CSL (2017) Dermatological manifestations of tuberous sclerosis complex (TSC). J Dtsch Dermatol Ges 15(7):695–700PubMedPubMedCentralGoogle Scholar
  30. Edlow JA (2002) Erythema migrans. Med Clin North Am 186(2):239–259CrossRefGoogle Scholar
  31. El Dib R, Gomaa H, Carvalho RP, Camargo SE, Bazan R, Barretti P, Barreto FC (2016) Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev 7:CD006663PubMedPubMedCentralGoogle Scholar
  32. Fatahzadeh M, Schwartz RA (2007) Human herpes simplex virus infections: epidemiology, pathogenesis, symptomatology, diagnosis, and management. J Am Acad Dermatol 57(5):737–763PubMedCrossRefPubMedCentralGoogle Scholar
  33. Font RL (1996) Eyelids and lacrimal drainage system. In: Spencer WH (ed) Ophthalmic pathology. An atlas and textbook, 4th edn. WB Saunders, Philadelphia, pp 2321–2322Google Scholar
  34. Font RL, Guiterrez Y, Semba RD, Marty AM (2000) Ocular onchocerciasis. In: Meyers WM, Neafie RC, Marty AM, Wear DJ (eds) Pathology of infectious diseases. Helminthiases. Armed Forces Institute of Pathology, Washington, DC, pp 307–318Google Scholar
  35. Franceschini D, Dinulos JG (2015) Dermal melanocytosis and associated disorders. Curr Opin Pediatr 27(4):480–485PubMedCrossRefPubMedCentralGoogle Scholar
  36. Franz DN (2013) Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. Biologics 7:211–221PubMedPubMedCentralGoogle Scholar
  37. Frith P, Burge SM, Millard PR, Wojnarowska F (1990) External ocular findings in lupus erythematosus: a clinical and immunopathological study. Br J Ophthalmol 74(3):163–167PubMedPubMedCentralCrossRefGoogle Scholar
  38. Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA (2016) PHACE syndrome: consensus-derived diagnosis and care recommendations. J Pediatr 178:24–33PubMedPubMedCentralCrossRefGoogle Scholar
  39. Gaudio PA (2006) Update on ocular syphilis. Curr Opin Ophthalmol 17(6):562–566PubMedCrossRefPubMedCentralGoogle Scholar
  40. Ghosh A, Ahar R, Chatterjee G, Sharma N, Jadhav SA (2017) Clinico-epidemiological study of congenital ichthyosis in a tertiary care center in eastern India. Indian J Dermatol 62(6):606–611PubMedPubMedCentralGoogle Scholar
  41. Giuliari GP, Ramirez G, Cortez RT (2011) Surgical treatment of ocular toxocariasis: anatomic and functional results in 45 patients. Eur J Ophthalmol 21(4):490–494PubMedCrossRefPubMedCentralGoogle Scholar
  42. Go BT (2005) Syphilis in adults. Sex Transm Infect 81(6):448–452CrossRefGoogle Scholar
  43. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004PubMedCrossRefPubMedCentralGoogle Scholar
  44. Hale H, Moshirfar M (2008) Herpes zoster ophthalmicus. In: Yanoff M, Duker JS (eds) Opthalmology, 3rd edn. Mosby Elsevier, Philadelphia, pp 222–226Google Scholar
  45. Harry W, Christine J (2009) Connective tissue diseases. In: David E (ed) Lever’s histopathology of the skin, 10th edn. Wolters Kluwer, Philadelphia, p 294Google Scholar
  46. Hercogova J (2001) Lyme borreliosis. Int J Dermatol 40(9):547–550PubMedCrossRefPubMedCentralGoogle Scholar
  47. Heyer GL (2015) PHACE(S) syndrome. Handb Clin Neurol 132:169–183PubMedCrossRefPubMedCentralGoogle Scholar
  48. Hirayama T, Suzuki T (1991) A new classification of Ota’s nevus based on histopathological features. Dermatologica 183(3):169–172PubMedCrossRefPubMedCentralGoogle Scholar
  49. Hirbe AC, Gutmann DH (2014) Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 13(8):834–843PubMedCrossRefPubMedCentralGoogle Scholar
  50. Hirose S, Ohno S (1984) Argon laser treatment of retinal neovascularisation associated with sarcoidosis. Jpn J Ophthalmol 28(4):356–361PubMedPubMedCentralGoogle Scholar
  51. Honavar SG, Singh AD (2004) Ocular adnexal and orbital tumors. In: Wormland R, Smeeth L, Henshaw K (eds) Evidence-based ophthalmology. BMJ Publishing Group, London, pp 375–381Google Scholar
  52. Honavar SG, Bansal AK, Sangwan VS, Rao GN (2000) Amniotic membrane transplantation for ocular surface reconstruction in Stevens-Johnson syndrome. Ophthalmology 107(5):975–979PubMedCrossRefPubMedCentralGoogle Scholar
  53. Horner ME, Abramson AK, Warren RB, Swanson S, Menter MA (2014) The spectrum of oculocutaneous disease: Part I. Infectious, inflammatory, and genetic causes of oculocutaneous disease. J Am Acad Dermatol 70(5):795.e1–795.e25CrossRefGoogle Scholar
  54. Hurford MT, Sebastiano C (2008) Hermansky-pudlak syndrome: report of a case and review of the literature. Int J Clin Exp Pathol 1(6):550–554PubMedPubMedCentralGoogle Scholar
  55. Iskeleli G, Bilgeç MD, Arici C, Ataley E, Oğreden T, Aydin A (2011) Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudo dendritic corneal lesion. Turk J Pediatr 53(6):692–694PubMedPubMedCentralGoogle Scholar
  56. Islam MP, Roach ES (2015) Tuberous sclerosis complex. Handb Clin Neurol 132:97–109PubMedCrossRefPubMedCentralGoogle Scholar
  57. Jameson E, Jones S, Remmington T (2016) Enzyme replacement therapy with laronidase (Aldurazyme(®))for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev 4:CD009354PubMedPubMedCentralGoogle Scholar
  58. Kamaraj B, Purohit R (2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int 2014:905472PubMedPubMedCentralGoogle Scholar
  59. Kariminejad A, Barzgar M, Bozorgmehr B, Keshavarz E, Kariminejad MH, S'Aulis D, Rizzo WB (2018) Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran. Eur J Med Genet 61(3):139–144PubMedCrossRefPubMedCentralGoogle Scholar
  60. Kersten RC, Ewing-Chow D, Kulwin DR, Gallon M (1997) Accuracy of clinical diagnosis of cutaneous eyelid lesions. Ophthalmology 104(3):479–484PubMedCrossRefPubMedCentralGoogle Scholar
  61. Khincha PP, Savage SA (2013) Genomic characterization of inherited bone marrow failure syndromes. Semin Hematol 50(4):333–347PubMedCrossRefPubMedCentralGoogle Scholar
  62. Kiss S, Damico FM, Young LH (2005) Ocular manifestations and treatment of syphilis. Semin Ophthalmol 20(3):161–167PubMedCrossRefPubMedCentralGoogle Scholar
  63. Kluger N, Mura F, Guillot B, Bessis D (2008) Vogt-Koyanagi-Harada syndrome associated with psoriasis and autoimmune thyroid disease. Acta Derm Venereol 88(4):397–398PubMedPubMedCentralGoogle Scholar
  64. Korf BR (2013) Neurofibromatosis. Handb Clin Neurol 111:333–340PubMedCrossRefPubMedCentralGoogle Scholar
  65. Kronenberg A, Blei F, Ceisler E, Steele M, Furlan L, Kodsi S (2005) Ocular and systemic manifestations of PHACES (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Cardiac defects and coarctation of the Aorta, Eye abnormalities, and Sternal abnormalities or ventral developmental defects) syndrome. J AAPOS 9(2):169–173PubMedCrossRefPubMedCentralGoogle Scholar
  66. Kumar B, Dogra S (2009) Leprosy: a disease with diagnostic and management challenges! Indian J Dermatol Venereol Leprol 75(5):111–115PubMedCrossRefPubMedCentralGoogle Scholar
  67. Kumar B, Dogra S (2010) Case definition and clinical types. In: Kar HK, Kumar B (eds) IAL textbook of leprosy, 1st edn. Jaypee Brothers Medical Publishers, New Delhi, pp 152–166CrossRefGoogle Scholar
  68. Kumar T, Sharma GS, Singh LR (2016) Homocystinuria: therapeutic approach. Clin Chim Acta 458:55–62PubMedCrossRefPubMedCentralGoogle Scholar
  69. Larizza L, Roversi G, Volpi L (2010) Rothmund-Thomson syndrome. Orphanet J Rare Dis 5:2PubMedPubMedCentralCrossRefGoogle Scholar
  70. Lederman C, Miller M (1999) Hordeola and chalazia. Pediatr Rev 20(8):283–284PubMedCrossRefPubMedCentralGoogle Scholar
  71. Lifshitz T, Levy J, Cagnano E, Halevy S (2004) Severe conjunctival and eyelid involvement in pemphigus vulgaris. Int Ophthalmol 25(2):73–74PubMedCrossRefPubMedCentralGoogle Scholar
  72. Lin YY, Wei AH, He X, Zhou ZY, Lian S, Zhu W (2014) A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Eur J Dermatol 24(2):168–173PubMedCrossRefPubMedCentralGoogle Scholar
  73. Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V (2014) Towards the targeted management of Chediak-Higashi syndrome. Orphanet J Rare Dis 9:132PubMedPubMedCentralCrossRefGoogle Scholar
  74. Maaloul I, Telmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T, Kallel CH, Hachicha M (2016) Chediak-Higashi syndrome presenting in accelerated phase: a case report and literature review. Hematol Oncol Stem Cell Ther 9(2):71–75PubMedCrossRefPubMedCentralGoogle Scholar
  75. Malik AN, Morris RW, Ffytche TJ (2011) The prevalence of ocular complications in leprosy patients seen in the United Kingdom over a period of 21 years. Eye (Lond) 25(6):740–745CrossRefGoogle Scholar
  76. Malik A, Amer AB, Salama M, Haddad B, Alrifai MT, Balwi MA, Davies W, Eyaid W (2017) X-linked ichthyosis associated with psychosis and behavioural abnormalities: a case report. J Med Case Rep 11(1):267PubMedPubMedCentralCrossRefGoogle Scholar
  77. Manavi S, Mahajan VK (2014) Rothmund-Thomson syndrome. Indian Dermatol Online J 5(4):518–519PubMedPubMedCentralCrossRefGoogle Scholar
  78. Mancino P, Ucciferri C, Falasca K, Racciatti D, Di Girolamo A, Vecchiet J, Pizzigallo E (2008) Inguinal lymphadenopathy due to Bartonella henselae. Infez Med 16(2):91–93PubMedPubMedCentralGoogle Scholar
  79. Margileth AM (2000) Recent advances in diagnosis and treatment of cat scratch disease. Curr Infect Dis Rep 2(2):141–146PubMedCrossRefPubMedCentralGoogle Scholar
  80. Margo CE, Waltz K (1993) Basal cell carcinoma of the eyelid and periocular skin. Surv Ophthalmol 38(2):169–192PubMedCrossRefPubMedCentralGoogle Scholar
  81. Marines HM, Patrinely JR (1992) Benign eyelid tumors. In: Liesegang TJ (ed) Oculodermal disease (Ophthalmology clinics of North America). Saunders, Philadelphia, pp 5.243–5.260Google Scholar
  82. Mazur-Melewska K, Mania A, Kemnitz P, Figlerowicz M, Służewski W (2015) Cat-scratch disease: a wide spectrum of clinical pictures. Postepy Dermatol Alergol 32(3):216–220PubMedPubMedCentralCrossRefGoogle Scholar
  83. McCluskey P, Powell RJ (2004) The eye in systemic inflammatory diseases. Lancet 364(9451):2125–2133PubMedCrossRefPubMedCentralGoogle Scholar
  84. Mcgrath JA (2015) Lipoid proteinosis. Handb Clin Neurol 132:317–322PubMedCrossRefPubMedCentralGoogle Scholar
  85. Mégarbané H, Mégarbané A (2011) Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis 6:29PubMedPubMedCentralCrossRefGoogle Scholar
  86. Mikkilä HO, Seppälä IJ, Viljanen MK, Peltomaa MP, Karma A (2000) The expanding clinical spectrum of ocular Lyme borreliosis. Ophthalmology 107(3):581–587PubMedCrossRefPubMedCentralGoogle Scholar
  87. Misra RS, Kumar J (2012) Syphilis: clinical features and natural course. In: Sharma VK (ed) Sexually transmitted diseases and HIV/AIDS, 2nd edn. Vinod Vasishtha Publications, New Delhi, p 277Google Scholar
  88. Mittal HC, Yadav S, Malik S, Singh G (2016) Lipoid proteinosis. Int J Clin Pediatr Dent 9(2):149–151PubMedPubMedCentralCrossRefGoogle Scholar
  89. Molho-Pessach V, Schaffer JV (2011) Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol 29(2):205–225PubMedCrossRefPubMedCentralGoogle Scholar
  90. Moriwaki S (2013) Hereditary disorders with defective repair of UV-induced DNA damage. Jpn Clin Med 4:29–35PubMedPubMedCentralCrossRefGoogle Scholar
  91. Moriwaki S, Kraemer KH (2001) Xeroderma pigmentosum-bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 17(2):47–54PubMedCrossRefPubMedCentralGoogle Scholar
  92. Moriwaki S, Kanda F, Hayashi M, Yamashita D, Sakai Y, Nishigori C, Xeroderma Pigmentosum Clinical Practice Guidelines Revision Committee (2017) Xeroderma pigmentosum clinical practice guidelines. J Dermatol 44(10):1087–1096PubMedCrossRefPubMedCentralGoogle Scholar
  93. Nadelman CM, Newcomer VD (2000) Herpes simplex virus infections. New treatment approaches make early diagnosis even more important. Postgrad Med 107(3):189–195. 199–200PubMedCrossRefPubMedCentralGoogle Scholar
  94. Newman LS, Rose CS, Maier LA (1997) Sarcoidosis. N Engl J Med 336(17):1223–1234CrossRefGoogle Scholar
  95. Ni C (1996) Histopathological classification of 3510 cases with eyelid tumor. Zhonghua Yan Ke Za Zhi 32(6):435–437PubMedPubMedCentralGoogle Scholar
  96. Nimir AR, Saliem A, Ibrahim IA (2012) Ophthalmic parasitosis: a review article. Interdiscip Perspect Infect Dis 2012:587402PubMedPubMedCentralCrossRefGoogle Scholar
  97. Orbak Z, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M (2010) Hartnup disease masked by kwashiorkor. J Health Popul Nutr 28(4):413–415PubMedPubMedCentralCrossRefGoogle Scholar
  98. Ortiz A, Sanchez-Niño MD (2017) Diagnosis and treatment of Fabry disease. Med Clin (Barc) 148(3):132–138CrossRefGoogle Scholar
  99. Palejwala NV, Walia HS, Yeh S (2012) Ocular manifestations of systemic lupus erythematosus: a review of the literature. Autoimmune Dis 2012:290898PubMedPubMedCentralGoogle Scholar
  100. Paovic J, Paovic P, Sredovic V (2013) Behcet’s disease: systemic and ocular manifestations. Biomed Res Int 2013:247345PubMedPubMedCentralCrossRefGoogle Scholar
  101. Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M (2017) Open issues in Mucopolysaccharidosis type I-Hurler. Orphanet J Rare Dis 12(1):112PubMedPubMedCentralCrossRefGoogle Scholar
  102. Patel AB, Prabhu AS (2008) Hartnup disease. Indian J Dermatol 53(1):31–32PubMedPubMedCentralCrossRefGoogle Scholar
  103. Paul S, Vo DT, Silkiss RZ (2011) Malignant and benign eyelid lesions in San Francisco: study of a diverse urban population. Am J Clin Med 8(1):40–46Google Scholar
  104. Pe’er J (2016) Pathology of eyelid tumors. Indian J Ophthalmol 64(3):177–190PubMedPubMedCentralCrossRefGoogle Scholar
  105. Perente I, Utine CA, Cakir H, Kaya V, Tutkun IT, Yilmaz OF (2009) Management of ocular complications of Vogt-Koyanagi-Harada syndrome. Int Ophthalmol 29(1):33–37PubMedCrossRefPubMedCentralGoogle Scholar
  106. Person JR (2003) An actinic keratosis is neither malignant nor premalignant: it is an initiated tumor. J Am Acad Dermatol 48:637–638PubMedCrossRefPubMedCentralGoogle Scholar
  107. Rai VM, Shenoi SD (2006) Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. Indian J Dermatol Venereol Leprol 72(2):136–138PubMedCrossRefPubMedCentralGoogle Scholar
  108. Rao TN, Radhakrishna K, Mohana Rao TS, Guruprasad P, Ahmed K (2008) Homocystinuria due to cystathionine beta synthase deficiency. Indian J Dermatol Venereol Leprol 74(4):375–378PubMedCrossRefPubMedCentralGoogle Scholar
  109. Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, Dickson DW (2006) Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol 21(11):991–1006PubMedPubMedCentralCrossRefGoogle Scholar
  110. Rasheed M, Karim N, Shah FA, Naeem M (2018) Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. Pediatr Neonatol 59(6):628–629PubMedCrossRefPubMedCentralGoogle Scholar
  111. Raskin EM, Speaker MG, Laibson PR (1992) Blepharitis. Infect Dis Clin N Am 6(4):777–787Google Scholar
  112. Read RW, Holland GN, Rao NA, Tabbara KF, Ohno S, Arellanes-Garcia L, Pivetti-Pezzi P, Tessler HH, Usui M (2001) Revised diagnostic criteria for Vogt-Koyanagi-Harada disease: report of an international committee on nomenclature. Am J Ophthalmol 131(5):647–652PubMedCrossRefPubMedCentralGoogle Scholar
  113. Reifler DM, Hornblass A (1986) Squamous cell carcinoma of the eyelid. Surv Ophthalmol 30(6):349–365PubMedCrossRefPubMedCentralGoogle Scholar
  114. Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC (2013) Bloom syndrome in short children born small for gestational age: a challenging diagnosis. J Clin Endocrinol Metab 98(10):3932–3938PubMedPubMedCentralCrossRefGoogle Scholar
  115. Roe RH, Jumper JM, Fu AD, Johnson RN, McDonald HR, Cunningham ET Jr (2008) Ocular bartonella infections. Int Ophthalmol Clin 48(3):93–105PubMedCrossRefPubMedCentralGoogle Scholar
  116. Rothova A (2000) Ocular involvement in sarcoidosis. Br J Ophthalmol 84(1):110–116PubMedPubMedCentralCrossRefGoogle Scholar
  117. Rubinsky-Elefant G, Hirata CE, Yamamoto JH, Ferreira MU (2010) Human toxocariasis: diagnosis, worldwide seroprevalences and clinical expression of the systemic and ocular forms. Ann Trop Med Parasitol 104(1):3–23PubMedCrossRefPubMedCentralGoogle Scholar
  118. Saw VP, Leonard JN (2016) Dermatoses of the eye, eyelids and eyebrows. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D (eds) Rook’s textbook of dermatology, 9th edn. Wiley Blackwell, UKGoogle Scholar
  119. Schiffmann R, Ries M (2016) Fabry disease: a disorder of childhood onset. Pediatr Neurol 64:10–20PubMedCrossRefPubMedCentralGoogle Scholar
  120. Scopetta C, Morante M, Casali C, Vaccario M, Mennuni G (1985) Dermatomyositis spares extra-ocular muscles. Neurology 35(1):141CrossRefGoogle Scholar
  121. Scott CR (2006) The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 142C(2):121–126PubMedCrossRefPubMedCentralGoogle Scholar
  122. Shah S, Singaraju S, Einstein A, Sharma A (2016) Herpes zoster: a clinicocytopathological insight. J Oral Maxillofac Pathol 20(3):547PubMedPubMedCentralCrossRefGoogle Scholar
  123. Shields JA, Demirci H, Marr BP, Eagle RC Jr, Shields CL (2004) Sebaceous carcinoma of the eyelids: personal experience with 60 cases. Ophthalmology 111(12):2151–2157PubMedCrossRefPubMedCentralGoogle Scholar
  124. Sihota R, Tandon K, Betharia SM, Arora R (1996) Malignant eyelid tumours in an Indian population. Arch Ophthalmol 114(1):108–109PubMedCrossRefPubMedCentralGoogle Scholar
  125. Singh A, Ramesh V (2013) Histopathological features in leprosy, post-kala-azar dermal leishmaniasis, and cutaneous leishmaniasis. Indian J Dermatol Venereol Leprol 79(3):360–366PubMedCrossRefPubMedCentralGoogle Scholar
  126. Skovby F, Gaustadnes M, Mudd SH (2010) A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab 99(1):1–3PubMedPubMedCentralCrossRefGoogle Scholar
  127. Stingl P (1997) Onchocerciasis: clinical presentation and host parasite interactions in patients of Southern Sudan. Int J Dermatol 36(1):23–28PubMedCrossRefPubMedCentralGoogle Scholar
  128. Subramanian V, Hariharan P, Balaji J (2016) Sjogren-Larsson syndrome: a rare neurocutaneous disorder. J Pediatr Neurosci 11(1):68–70PubMedPubMedCentralCrossRefGoogle Scholar
  129. Sudarsanam A, Ardern-Holmes SL (2014) Sturge-weber syndrome: from the past to the present. Eur J Paediatr Neurol 18(3):257–266PubMedCrossRefPubMedCentralGoogle Scholar
  130. Summers CG (2009) Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci 86(6):659–662PubMedCrossRefPubMedCentralGoogle Scholar
  131. Swinney CC, Han DP, Karth PA (2015) Incontinentia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina 46(6):650–657PubMedCrossRefPubMedCentralGoogle Scholar
  132. Tagra S, Talwar AK, Walia RS, Sidhu P (2006) Waardenburg syndrome. Indian J Dermatol Venereol Leprol 72(4):326PubMedCrossRefPubMedCentralGoogle Scholar
  133. Talhari C, Althaus C, Megahed M (2006) Ocular linear IgA disease resulting in blindness. Arch Dermatol 142(6):786–787PubMedCrossRefPubMedCentralGoogle Scholar
  134. Tesluk GC (1985) Eyelid lesions: incidence and comparison of benign and malignant lesions. Ann Ophthalmol 17(11):704–707PubMedPubMedCentralGoogle Scholar
  135. Thaddanee R, Khilnani AK, Pandya P, Chaturvedi M (2014) Lipoid proteinosis (Urbach-Wiethe disease) in two siblings. Indian Dermatol Online J 5(Suppl S2):95–97CrossRefGoogle Scholar
  136. Tiwary AK, Dixit A (2017) Peri-orbital giant hairy congenital melanocytic ‘divided nevus’with multiple disseminated satellite nevi. Pigment Int 4(1):52–53CrossRefGoogle Scholar
  137. Tiwary AK, Mishra DK, Jha G (2017) A rare face of “PHACE” syndrome with Dandy-Walker malformation, microphthalmia with leukocoria, hearing loss and involuting segmental facial hemangioma. Indian J Paediatr Dermatol 18(3):223–226CrossRefGoogle Scholar
  138. Tuovinen E, Raudasoja R (1965) Poikilodermatomyositis with retinal haemorrhages and secondary glaucoma. Acta Ophthalmol 43(5):669–672CrossRefGoogle Scholar
  139. Vega-Lopez F, Hay RJ (2010) Parasitic worms and protozoa. In: Breathnach S, Cox N, Griffiths C, Burns T (eds) Rook’s textbook of dermatology, 8th edn. Wiley-Blackwell, New Jersey, pp 37.1–37.26Google Scholar
  140. Vieira AC, Hofling-Lima AL, Mannis MJ (2012) Ocular rosacea: a review. Arq Bras Oftalmol 75(5):363–369PubMedCrossRefPubMedCentralGoogle Scholar
  141. Walsh S, Lee HY, Creamer D (2016) Severe cutaneous adverse reactions to drugs. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D (eds) Rook’s textbook of dermatology, 9th edn. Wiley Blackwell, Chichester, pp 119.1–119.16Google Scholar
  142. Wanders RJA, Jansen GA, Skjeldal OH (2001) Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol 60(11):1021–1031PubMedCrossRefPubMedCentralGoogle Scholar
  143. Welch RB, Duke JR (1958) Lesions of the lids: a statistical note. Am J Ophthalmol 45(3):415–416PubMedCrossRefPubMedCentralGoogle Scholar
  144. Wilcken B, Yu SJ, Brown DA (1977) Natural history of Hartnup disease. Arch Dis Child 52(1):38–40PubMedPubMedCentralCrossRefGoogle Scholar
  145. Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ (2016) The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med 18(5):483–493PubMedCrossRefPubMedCentralGoogle Scholar
  146. Winter PR, Itinteang T, Leadbitter P, Tan ST (2016) PHACE syndrome-clinical features, aetiology and management. Acta Paediatr 105(2):145–153PubMedCrossRefPubMedCentralGoogle Scholar
  147. Wraith JE, Jones S (2014) Mucopolysaccharidosis type I. Pediatr Endocrinol Rev 12(Suppl 1):102–106PubMedPubMedCentralGoogle Scholar
  148. Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES (2017) Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous finding. JAAD Case Rep 3(3):172–174PubMedPubMedCentralCrossRefGoogle Scholar
  149. Yew YW, Giordano CN, Spivak G, Lim HW (2016) Understanding photodermatoses associated with defective DNA repair: photosensitive syndromes without associated cancer predisposition. J Am Acad Dermatol 75(5):873–882PubMedCrossRefPubMedCentralGoogle Scholar
  150. Zaal MJ, Völker-Dieben HJ, D'Amaro J (2003) Visual prognosis in immunocompetent patients with herpes zoster ophthalmicus. Acta Ophthalmol Scand 81(3):216–220PubMedCrossRefPubMedCentralGoogle Scholar
  151. Zhou EY, Wang H, Lin Z, Xu G, Ma Z, Zhao J, Feng C, Duo L, Yin J, Yang Y (2017) Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients. J Dermatol 44(1):71–75PubMedCrossRefPubMedCentralGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Dermatology DepartmentSubharti Medical College and HospitalMeerutIndia
  2. 2.Dermatology DepartmentKatihar Medical CollegeKatiharIndia
  3. 3.Consultant DermatologistRejuven Skin ClinicBerhampurIndia
  4. 4.Dermatology DepartmentKPC Medical CollegeKolkataIndia
  5. 5.DermatologyMedical College and HospitalKolkataIndia
  6. 6.Ophthalmic Plastic Surgery & Ophthalmic Oncology serviceManipal HospitalBangaloreIndia
  7. 7.Adjunct Faculty, Department of OphthalmologyKempegowda Institute of Medical SciencesBangaloreIndia

Personalised recommendations