Ichthyosis (concept, pathohistology, clinical picture, treatment)

Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales. It is possible to distinguish different approaches to the definition of ichthyosis, based on the modern study of this issue. Ichthyosis is classified by type: congenital and acquired. Congenital ichthyosis has its own classification depending on the manifestation of changes in the skin, the course of the disease, concomitant pathologies. Congenital ichthyosis is divided into ordinary (vulgar autosomal dominant, simple) ichthyosis, lamellar ichthyosis (dry ichthyosiform erythroderma, "collodion child", lamellar ichthyosis), X-linked ichthyosis (ichthyosis associated with the X chromosome, blackening ichthyosis), congenital bullous ichthyosiform erythroderma (erythroderma Broca's disease, ichthyosiform epidermolytic hyperkeratosis), fetal ichthyosis (intrauterine ichthyosis, universal hyperkeratosis, "Harlequin fetus", congenital keratosis), other congenital ichthyosis. Ichthyosiform conditions (the so-called acquired ichthyosis) are divided into symptomatic, age-related (senile), discoid ichthyosis. The causes of acquired ichthyosis can be various diseases, taking medications, improper skin care, unbalanced nutrition. Each form of ichthyosis differs by the type of inheritance, prevalence in the population, clinical picture, verified by histological examination of skin biopsies and electron microscopic examination of the skin. It may be accompanied by seasonality of exacerbation of the clinical picture, association with other diseases (allergic, diseases of the gastrointestinal tract, congenital malformations). There is no specific treatment for ichthyosis. In systemic therapy, derivatives of vitamin A are used, keratolytics, as well as moisturizing and emollient agents are used for external treatment. The use of therapeutic baths, general ultraviolet irradiation is effective.

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report

Introduction: Ichthyosis is a group of disorders typically characterized by the accumulation of large scales over the skin. Mild bony deformities due to Vitamin D deficiency are commonly associated with this group of disorders which can be successfully treated with conventional Vitamin D supplementation. Severe multiple bony deformities requiring surgical correction are rarely reported and may be associated with various other disorders. Case Report: We report a case of a 15-year-old male with ichthyosis, short stature, and progressive multiple bony deformities since birth. The child was started on Vitamin D3 supplementation. Once biochemical parameters improved he underwent multiple corrective osteotomies in the bilateral tibia and right femur to improve gait mechanics. Our main concerns while managing the patient were regarding wound healing, secondary infection due to extensive scaling and healing at the osteotomy site. On follow-up we noted good healing at the osteotomy site without any surgical site infection or skin complications as well as improvement in gait mechanics and cosmesis. Conclusion: Severe bony deformities due to Vitamin D deficient are rare in ichthyosis and other syndromic causes should be ruled out. Surgical management can be beneficial in improving quality of life and gait biomechanics. Keywords: Lamellar ichthyosis, osteotomy, genetic testing, Vitamin D deficiency.

Oral manifestations of lamellar ichthyosis in association with rickets

Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of 51, 52, 61, 62 and 71, grade II mobility in 72, 73, 81, 82 and 83 along with loss of supporting bone with 53, 63, 72, 73, 82 and 83. This is the first report describing oral manifestations of this combination of LI and rickets.