Congenital Ichthyosis in Pediatric Age Group: A Clinical study

Sivayadevi, P (2008) Congenital Ichthyosis in Pediatric Age Group: A Clinical study. Masters thesis, Madras Medical College, Chennai.


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INTRODUCTION : Ichthyoses comprise of a heterogeneous group of disorders, due to defect in keratinization or cornification with abnormal differentiation and desquamation of epidermis. It is clinically characterized by dry rough skin with scaling over much or the entire body surface. The terminology and nosology of congenital ichthyosis has continuously evolved and has lead to a confusing medley of different terms and classification systems. Recent advances in the molecular genetics has provided tools to categorize ichthyosis, on the basis of their underlying genetic defects. A number of well defined types of ichthyoses have characteristic features and can be reliably diagnosed. But a specific diagnosis can be challenging in certain patients and families due to great clinical heterogeneity. In general, determination of whether an ichthyosis is inherited or acquired, presented at birth or later in life, and whether it is limited to the skin or part of multisystem disorder, helps in diagnosis. Quality and distribution of scale, presence or absence of erythroderma, blistering, associated abnormalities of skin adnexae are other useful clinical features. A thorough family history is essential for recognizing the inheritance pattern. Establishing the correct clinical diagnosis in a patient with ichthyosis is a prerequisite for making prognostic predictions, therapeutic decisions and offering genetic counselling. AIMS OF THE STUDY : To study the incidence of Congenital ichthyosis in pediatric age group in Institute of child health, Government General Hospital, Chennai during the period of two years between september 2005 to september 2007. To study the incidence of various types of congenital ichthyosis and ichthyosiform syndromes. To study the age of onset of various types of congenital ichthyosis. To study the sex incidence of various types of congenital ichthyosis. To study the presenting symptoms and clinical patterns. To study the associated skin disorders with particular reference to atopy, keratosis pilaris, and fungal infection. To study the histopathological pattern. To study the prevalence of ichthyosis in family members. Conclusion : The incidence of congenital ichthyosis in Institute of child health, Government General Hospital during the period between September 2005 and September 2007 was 6 per 1000. The incidence of various clinical types of congenital ichthyosis were as follows: Ichthyosis vulgaris : 1 per 200, Lamellar ichthyosis : 9 per 10000, Non bullous ichthyosiform erythroderma : 4 per 10000, Bullous ichthyosiform erythroderma : 2 per 10000, Netherton’s syndrome : 1 per 10000, Sjögren Larsson syndrome. : 2 per 10000, The relative incidence of various clinical types of congenital ichthyosis were as follows Ichthyosis vulgaris : 71.8%, Lamellar ichthyosis : 14%, Non bullous ichthyosiform erythroderma : 6%, Bullous ichthyosiform erythroderma : 3%, Netherton’s syndrome : 1.5%, Sjögren Larsson syndrome : 3%, Sex distribution was equal in ichthyosis vulgaris patients. In lamellar ichthyosis, the male to female sex ratio was 1:3. The age of onset of ichthyosis vulgaris was around 3 to 6 months in 96% of patients. In other clinical types, the age of onset was from birth. Follow up of collodion baby showed that 70% of patients developed lamellar ichthyosis and 30% of patient developed non bullous ichthyosiform erythroderma, the ratio being 1:2.3. The main complaints of the patients were dryness, roughness and disfigurement. Winter exacerbation of the disease was present in 46% of ichthyosis vulgaris patients. 6.5% of the patients with ichthyosis vulgaris had associated atopy. Other associated condition seen were keratosis pilaris, café au lait macules, pyoderma and intertrigo. Rickets was seen in association with ichthyosis vulgaris in one patient. Ichthyosis was prevalent in family members of 41% of the patients with ichthyosis vulgaris and in 22% of the patients with lamellar ichthyosis. Laboratory investigations showed eosinophilia in 11% of patients with ichthyosis vulgaris. Serum IgE was elevated in patient with Netherton’s syndrome.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Congenital Ichthyosis ; Pediatric Age Group ; Clinical study.
Subjects: MEDICAL > Dermatology Venereology and Leprosy
Depositing User: Subramani R
Date Deposited: 05 Jul 2017 03:10
Last Modified: 01 Mar 2018 16:30

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