Clinical Atlas of Genodermatoses in Skin of Colour by Sathishkumar, Dharshini; Mathew, Lydia; George, Anju; Chiramel, Minu Jose;

Hosszú leírás:

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Genodermatoses are a diverse group of inherited disorders caused by genetic mutations, often involving the skin, mucosa, and adnexal structures. As the most accessible and visible organ, the skin frequently offers vital diagnostic clues—such as café-au-lait macules in neurofibromatosis, angiofibromas in tuberous sclerosis, or ichthyosis linearis circumflexa in Netherton syndrome, that may be overlooked by the untrained eye. Early recognition of these hallmark lesions can lead to prompt diagnosis and timely management.

With the advent of advanced genetic testing and expanding access to molecular diagnostics, the identification of genodermatoses is steadily increasing. In parallel, developments in proteomics and targeted therapies are offering promising therapeutic avenues. Against this background, clinical suspicion and early recognition remain crucial.

Most existing textbooks on genodermatoses are authored in Western contexts, and the accompanying clinical images often do not represent how these conditions appear in skin of colour. This atlas aims to bridge that gap by presenting high-quality clinical images of genodermatoses as seen in skin of colour, accompanied by concise, structured discussions tailored for practical use.

Tartalomjegyzék:

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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.