Genodermatosis

The genodermatoses are a large group of inherited single-gene disorders with skin manifestations. Many of these disorders are rare. However, the recognition of their skin findings is important not only for the initiation of appropriate dermatologic therapy, but also for the detection of other associated abnormalities in these frequently multisystem disorders, including malignancy. This group of genodermatoses is of particular importance because of the association of skin findings with the development of malignancies, both cutaneous and noncutaneous examples include basal cell nevus syndrome, Gardner syndrome, Peutz-Jeghers syndrome (PJS), and Xeroderma pigmentosum (XP). The basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, Gorlin syndrome, is a rare disorder of autosomal dominant inheritance that results from germline mutations of the human patched gene (PTCH). Intermediacies are a large pool of inherited single gene disorder with skin manifestations. It includes Diagnosis and treatment of Netherton’s syndrome, New forms of EB (Epidermolysis), Designation  and directions of Acrodermatitis enteropathica, Diagnosis and treatment of inherited disorders, Genetic abnormality leading to genodermatosis and Epidemiology of genodermatosis.

409 patients have genodermatoses during an 8-year time period (2004- 2012). The total percentage of diagnoses in the cohort was 59%. A total yield of 59% exceeds the earlier reports on diagnostic yield in cohorts of patients with intellectual disability (ID). The diagnostic yield in these cohorts varied from 30 to 47.8% in several studies on the etiology.

  • Epidermolysis Bullosa
  • Ichthyosis
  • Palmoplantar keratoderma
  • Neurofibromatosis
  • Xeroderma pigmentosum
  • Incontinentia pigmenti
  • Restrictive dermopathy
  • Diagnosis and treatment of Netherton’s syndrome
  • New forms of Epidermolysis bullosa
  • Diagnosis and treatment of Acrodermatitis enteropathica
  • Genetic Disorders leading to genodermatosis
  • Epidemiology of genodermatosis
  • Diagnosis and treatment of Ichthyosis

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