Clinico-epidemiological study of genodermatoses in pediatric age group
Keywords:Genodermatoses, Pediatric, Neurofibromatosis, Tuberous sclerosis
Background: Genetic diseases causing abnormalities in structure and/or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.
Methods: A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous/extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.
Results: Out of 4032 pediatric patients, 35 were found to have genodermatoses. Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.
Conclusions: Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.
Pandhi D. Current status of genodermatoses: An Indian perspective. Indian J Dermatol Venereol Leprol. 2015;81:7-9.
Sybert VP. Genetic skin disorders. New York: Oxford University Press; 2017: 1.
Cantatore‐Francis MJL, Glick SA. Prenatal diagnosis of genodermatoses: current scope and future capabilities. Int J Dermatol. 2010;49(4):353-61.
Kumar S, Sharma RC. Genodermatoses in paediatric age group. Indian J Dermatol Venereol Leprol. 1996;62:235-6.
Pembrey ME. Genetic factors in disease. In: Weather Hall DJ, Leelingham JGG, Warell DA, eds. Oxford textbook of medicine. London: Oxford University Press, 1987; 4.1-4.40.
Purkait R, Samanta T, Thakur S, Dhar S. Neurocutaneous syndrome: A prospective study. Indian J Dermatol. 2011;56:375-9.
Katibi OS, Dlova NC, Chateau AV, Mosam A. The prevalence of paediatric skin conditions at a dermatology clinic in KwaZulu-Natal Province over a 3-month period. SAJCH. 2016;10(2):121-5.
Mckusick VA. Genetics and dermatology. J Invest Dermatol. 1973;60:343-59.
McGrath JA, McLean WHI. Genetics in relation to the skin. In: Wolff K, Goldsmith LA, Katz SI, Gilchrist B, Paller A, Laffell D, editors. Fitzpatrick’s dermatology in general medicine. 7th ed. New York: McGraw-Hill; 2008: 73-87.
Kumaran MS, De D. Basic genetics for dermatologists. Indian J Dermatol Venereol Leprol. 2013;79:457-68.
Obringer AC, Meadows AT, Zackai EH. The diagnosis of neurofibromatosis 1 in the child under the age of 6 years. Am J Dis Child. 1989;143:717-9.
Ghosh SK, Debabrata B, Gobinda C, Ghosh A, Sharmila S, Somenath S. Mucocutaneous Changes In Tuberous Sclerosis Complex: A Clinical Profile Of 27 Indian Patients. Indian J Dermatol. 2009;54:255-7.
Rama Rao GR, Krishna Rao PV, Gopal K, Kumar YH, Ramachandra BV. Forehead plaque: A cutaneous marker of CNS involvement in tuberous sclerosis. Indian J Dermatol Venereol Leprol. 2008;74:28-31.
Jeevan KB, Thappa DM, Narasimahan R. The cutaneous features of tuberous sclerosis: A hospital based study in south India. Indian J Dermatol. 2001;46:149-53.
Nath J, Dubey A, Pavan R. Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough?. Indian J Dermatol Venereol Leprol. 2015;81:23-8.
JóŸwiak S, Schwartz RA, Janniger CK, Michaowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: Their prevelance, natural course, and diagnostic significance. Int J Dermatol. 1998;37:911-7.
Tonekaboni SH, Tousi P, Ebrahimi A, Ahmadabadi F, Keyhanidoust Z, Zamani GH, et al. Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients. Iran J Child Neurol. 2012;6:25-31.
Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child. 1987;62:989-96.
Mehta U, Brunworth J, Fete TJ, Sindwani R. Head and neck manifestations and quality of life of patients with ectodermal dysplasia. Otolaryngol Head Neck Surg. 2007;136:843-7.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:3-17.
Anneroth G, Isacsson G, Lagerholm B, Lindvall AM, Thyresson N: Pachyonychia congenita. A clinical, histological and microradiographic study with special reference to oral manifestations. Acta Derm Venereol. 1975;55:387-94.
Rand RE, Baden HP. The ichthyoses-a review. J Am Acad Dermatol. 1983;8:285.
Well RS, Kerr CB. Clinical features of autosomal dominant and autosomal recessive ichthyosis in an English population. Br Med J. 1966;1:947-50.
Rai R, Ramachandran B, Sundaram V S, Rajendren G, Srinivas C R. Naxos disease: A rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. Indian J Dermatol Venereol Leprol. 2008;74:50-2.
Yadav BS, Sonawane SN, Deshpande PR, Risbud. Palmoplantar keratoderma - Mal de Meleda type. Indian J Dermatol Venereol Leprol. 1994;60:359-61.
Jee SH, Lee YY, Wu YC, Lü YC, Pan CC. Report of a family with Malde meleda in Taiwan, a clinical, histopathological and immunological study. Dermatologica. 1985;171:30-7.
Gronskov K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
Rao VA, Swathi P, Chaitra, Thappa DM. Bilateral keratoconus with oculocutaneous albinism. Indian J Dermatol Venereol Leprol. 2008;74:407-9.
Agarwal US, Sitaraman S, Mehta S, Panse G. Hutchinson-Gilford progeria syndrome. Indian J Dermatol Venereol Leprol. 2010;76:591.
Badame AJ. Review of progeria. Arch Dermatol. 1989;125:540-4.
Rudramurthy P, Lokanatha H. Chediak-higashi syndrome: A case series from Karnataka, India. Indian J Dermatol. 2015;60:524.
Bagheri A, Abdollahi A. Hermansky-Pudlak Syndrome;a Case Report. J Ophthalmic Vis Res. 2010;5(4):269-72.
Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14:162-9.
Choudhary SV, Gadegone RW, Koley S. Menkes kinky hair disease. Indian J Dermatol. 2012;57:407-9.
Menkes JH. Kinky hair disease. Pediatrics 1972;50:181-3.
Agarwal P. Incontinentia pigmenti. Indian J Dermatol Venereol Leprol. 1997;63:368-9.
Udagani M M, Siddaramappa B, Shankar R, Swamy B. Darier's disease. Indian J Dermatol Venereol Leprol. 1991;57:162.
Bedi BMS, Garg BR. Darier's disease, Ind J Dermatol Venereol Leprol. 1978;44:145-8.
Kumar T S, Ebenazar S, Moses PD. Griscelli syndrome. Indian J Dermatol. 2006;51:269-71.
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med. 1978;65:691-702.