Clinical Atlas of Genodermatoses in Skin of Colour
portes grátis
Clinical Atlas of Genodermatoses in Skin of Colour
Sathishkumar, Dharshini; George, Anju; Mathew, Lydia; Chiramel, Minu Jose
Springer Verlag, Singapore
05/2026
853
Dura
Inglês
9789819512799
Pré-lançamento - envio 15 a 20 dias após a sua edição
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Part I Introduction to genetics.- 1. Basics of Genetics for a Practising Dermatologist.- 2. Mosaicism in relation to genodermatoses.- Part II: Multistep approach in the diagnosis of Genodermatoses.- 3. Key points in history taking and examination.- 4. Anthropometry in Children: Measurement and Interpretation.- 5. Dysmorphology in relevance to Genodermatoses.- 6. How to draw a pedigree chart.- 7. Histopathology in relation to genodermatoses.- 8. The role of cytogenetics in the diagnosis of genodermatoses.- 9. Molecular diagnosis of genodermatoses: What, why and how?.- 10. How to read and interpret a genetic report.- Part III: Disorders of cornification.- 11. Congenital ichthyoses.- 12. Inherited palmoplantar keratodermas.- 13. Erythrokeratodermas.- Part IV: Inherited Pigmentary disorders.- 14. Inherited Reticulate Pigmentary Disorders.- 15. Dyschromatosis.- 16. Silvery hair syndromes.- 17. Oculocutaneous albinism.- 18. Waardenburg syndrome & Piebaldism.- 19. Syndromes with lentigines.- 20. Poikilodermatous disorders.- 21. Pigmentary mosaicism.- Part V: Genetic disorders affecting adnexal structures.- 22. Genodermatoses primarily affecting the hair.- 23. Genetic disorders primarily affecting the nails and nail growth.- Part VI: Inborn errors of immunity.- 24. Inborn Errors of Immunity.- 25. IEI with eczematous presentation.- 26. Investigations pertaining to the diagnosis of IEI.- 27. Autoinflammatory disorders.- Part VII: Nevoid disorders.- 28. Epidermal Naevi and associated syndromes.- 29. Melanocytic Nevi.- Part VIII: Ectodermal dysplasias.- 30. Ectodermal Dysplasias.- 31. Incontinentia Pigmenti.- Part IX: Inherited disorders of cutaneous vasculature and overgrowth syndromes.- 32. Vascular Anomalies.- 33. Overgrowth Syndromes.- Part X: Other genodermatoses.- 34. Disorders of skin fragility.- 35. Inherited acantholytic disorders.- 36. Chromosomal Disorders.- 37. Genetic disorders of connective tissue and adipose tissue.- 38. Aplasia cutis congenita.- 39. Rasopathies and neurocutaneous syndromes.- 40. Genodermatoses with malignant potential.- 41. Premature ageing syndromes.- 42. Inherited photosensitivity disorders.- 43. Inherited metabolic disorders.- Part XI: Management of genodermatoses.- 44. Genetic Counselling and Prenatal Diagnosis in Genodermatoses.- 45. Emerging therapies pertinent to Genodermatoses.
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Genetic skin disorders;neurocutaneous markers;Genodermatoses;inherited skin disorders;Metabolic disorders
Part I Introduction to genetics.- 1. Basics of Genetics for a Practising Dermatologist.- 2. Mosaicism in relation to genodermatoses.- Part II: Multistep approach in the diagnosis of Genodermatoses.- 3. Key points in history taking and examination.- 4. Anthropometry in Children: Measurement and Interpretation.- 5. Dysmorphology in relevance to Genodermatoses.- 6. How to draw a pedigree chart.- 7. Histopathology in relation to genodermatoses.- 8. The role of cytogenetics in the diagnosis of genodermatoses.- 9. Molecular diagnosis of genodermatoses: What, why and how?.- 10. How to read and interpret a genetic report.- Part III: Disorders of cornification.- 11. Congenital ichthyoses.- 12. Inherited palmoplantar keratodermas.- 13. Erythrokeratodermas.- Part IV: Inherited Pigmentary disorders.- 14. Inherited Reticulate Pigmentary Disorders.- 15. Dyschromatosis.- 16. Silvery hair syndromes.- 17. Oculocutaneous albinism.- 18. Waardenburg syndrome & Piebaldism.- 19. Syndromes with lentigines.- 20. Poikilodermatous disorders.- 21. Pigmentary mosaicism.- Part V: Genetic disorders affecting adnexal structures.- 22. Genodermatoses primarily affecting the hair.- 23. Genetic disorders primarily affecting the nails and nail growth.- Part VI: Inborn errors of immunity.- 24. Inborn Errors of Immunity.- 25. IEI with eczematous presentation.- 26. Investigations pertaining to the diagnosis of IEI.- 27. Autoinflammatory disorders.- Part VII: Nevoid disorders.- 28. Epidermal Naevi and associated syndromes.- 29. Melanocytic Nevi.- Part VIII: Ectodermal dysplasias.- 30. Ectodermal Dysplasias.- 31. Incontinentia Pigmenti.- Part IX: Inherited disorders of cutaneous vasculature and overgrowth syndromes.- 32. Vascular Anomalies.- 33. Overgrowth Syndromes.- Part X: Other genodermatoses.- 34. Disorders of skin fragility.- 35. Inherited acantholytic disorders.- 36. Chromosomal Disorders.- 37. Genetic disorders of connective tissue and adipose tissue.- 38. Aplasia cutis congenita.- 39. Rasopathies and neurocutaneous syndromes.- 40. Genodermatoses with malignant potential.- 41. Premature ageing syndromes.- 42. Inherited photosensitivity disorders.- 43. Inherited metabolic disorders.- Part XI: Management of genodermatoses.- 44. Genetic Counselling and Prenatal Diagnosis in Genodermatoses.- 45. Emerging therapies pertinent to Genodermatoses.
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